Supplementary Information

Size: px
Start display at page:

Download "Supplementary Information"

Transcription

1 Supplementary Information Table of Contents Supplementary methods... 2 Figure S1 - Variable DNA yield proportional to bone marrow aspirate cellularity Figure S2 - Mutations by clinical ontogeny group Figure S3 - Distribution of variant allele fraction in individual genes in s- AML and t- AML... 5 Figure S4 - Cytogenetic abnormalities in s- AML according to TP53 mutation status Figure S5 - Overall survival in DFCI cohort according to TP53 mutation status Figure S6 Characteristics of t- AML patients based on presence of interval clinical diagnosis of t- MDS Figure S7 - Patient- level mutation data from serially- sequenced samples... 9 Figure S8 Distribution of mutations in Figure S9 Distribution of genetic ontogeny groups by age in an unselected AML cohort (DFCI) Figure S10 Chromosome 5 and 7 abnormalities are associated with TP53 mutations in all genetic ontogeny groups Figure S11 - Secondary- type genetic alterations in non- M3 de novo AML (TCGA) Figure S12 - Overall survival by number of recurrent driver mutations Figure S13 - Overall survival by bone marrow blast count Table S1 - Clinical and geographic characteristics of the entire sequenced cohort Table S2 - Clinical and cytogenetic characteristics of sequenced vs. unsequenced cohorts Table S3 List of sequenced genes (test cohort) Table S4 - Genomic coordinates (Hg19) of all target regions used for custom sequencing design Figure S5 Patient- level mutation data in the s- AML/t- AML (ACCEDE) cohort Figure S6 List of variants of unknown significance (VUS) identified in the s- AML/t- AML cohort Table S7 Genes sequenced in the validation cohort Table S8 - Clinical and genetic details of serially sequenced MDS and s- AML samples Table S9 Analysis of Overall Survival for s- AML Table S10 - Analysis of Overall Survival for t- AML... 45

2 Supplementary methods DNA extraction: For the s- AML and t- AML cohorts, genomic DNA was extracted from bone marrow aspirate slides submitted for central pathology review on NCT Cover slips, when present, were first removed by soaking slides in Xylene for 48 hours. Slides and coverslips were rinsed in ethanol and permitted to air dry prior to DNA extraction. Phosphate buffered saline was added to the specimen and aspirate material was removed using a fresh razor blade. DNA was extracted using the Qiamp DNA Blood Mini Kit per manufacturer s recommended protocol (Qiagen). At least one bone marrow aspirate slide was available for 277 subjects (64%), 83 (30%) of which failed post- extraction quality control. There was no bias in DNA quality or quantity based on age of sample, geographic region, presence of coverslip, or whether the slide was stained or unstained prior to archiving. By comparing aspirate cellularity to biopsy cellularity, we determined that sample dropout due to low quantity DNA was related to hemodilution (with an associated hypercellular core biopsy) rather than true bone marrow hypocellularity. Representative images and DNA quantity from bone marrow aspirate slides with variable cellularity are shown in Figure S1. 2

3 Supplementary Figure S1 - Variable DNA yield proportional to bone marrow aspirate cellularity. Representative images from bone marrow aspirate smears from four subjects with either hyper- or hypocellularity, prior to DNA extraction. DNA yield from same archived aspirate slide is highlighted in the upper right corner. Hypercellular:+ 9.9$µg$$ 2.9$µg$$ Hypocellular:+ 1.2$µg$$ 430$ng$ 3

4 Supplementary Figure S2 - Mutations by clinical ontogeny group. 629 driver mutations in 48 genes were identified in 194 patients with s- AML (black) or t- AML (grey). 183/194 (94%) patients had 1 single nucleotide variant (SNV) or small insertion or deletion (indel) in a recurrent myeloid driver gene. 4

5 Supplementary Figure S3 - Distribution of variant allele fraction in individual genes in s- AML and t- AML Variant allele fraction (VAF) according to individual genes. Colors indicate genetic ontogeny group: secondary- type mutations (blue), TP53 mutated (green), pan- AML (yellow), and de novo AML (red). Horizontal lines within boxes indicate median VAF. Box limits indicate the 25th and 75th percentiles, whiskers extend to the 10th and 90th percentiles, and outliers are represented by dots. Genes located on the X chromosome are indicated on the right. 5

6 Supplementary Figure S4 - Cytogenetic abnormalities in s- AML according to TP53 mutation status. Number of cytogenetic abnormalities per case. Box limits indicate the 25th and 75th percentiles, whiskers extend to the 10th and 90th percentiles, and outliers are represented by dots. 20 Cytogene4c%abnormali4es TP53%mutated TP53%unmutated 6

7 Supplementary Figure S5 - Overall survival in DFCI cohort according to TP53 mutation status. Kaplan- Meier estimates of overall survival are shown for (A) the s- AML cohort and (B) the DFCI AML cohort. Curves show patients with (green) and without (black) TP53 mutations. Log- rank P value is indicated. 7

8 Supplementary Figure S6 Characteristics of t- AML patients based on presence of interval clinical diagnosis of t- MDS. (A) Co- mutations plots showing spectra of mutations in t- AML patients based on interval diagnosis of t- MDS. Mutations are depicted by colored bars and each column represents a single sequenced subject. Colors reflect ontogeny- specificity of mutated genes, as described in Figure 1B. Genetic ontogeny groups are reflected by horizontal bars at the top, where blue = secondary- type, green = TP53 mutated, and red = de novo/pan- AML. (B) Proportion of genetic ontogeny classes in t- AML patients based on interval diagnosis of t- MDS. (C) Age and (D) number of recurrent driver mutations are similar in t- AML patients with secondary- type mutations with and without interval t- MDS diagnosis. 8

9 Supplementary Figure S7 - Patient- level mutation data from serially- sequenced samples Patient- level mutation data from serially- sequenced MDS and s- AML samples in which we (A) did not and (B) did detect progression mutations. Variants present in both the MDS and s- AML samples only are shown in grey, while variants detected only in s- AML are shown in gold. MDS that progressed without acquisition of new mutations in recurrent myeloid driver genes were less likely to harbor mutations in RAS/TK or myeloid transcription factors genes (14% vs. 90%, p = 0.029). A" Subject(ID Interval((days) TP53_p.R273L TP53_p.G266R DNMT3A_p.K652fs TET2_p.Q769X TP53_c.803.2A>G NRAS_p.G12 TET2_p.Q769X TP53_p.K132E TP53_p.C106Y SF3B1_p.K666N TET2_p.C1193Y TP53_p.Y234N RAD21_p.203_204del TET2_p.C1193Y DNMT3A_p.R771X WT1_p.F196fs SRSF2_p.P95H ASXL1_p.A709fs B" Subject(ID Interval((days) NPM1_p.L287fs IKZF1_p.171_171del DNMT3A_p.D857G DNMT3A_p.M761V DNMT3A_p.R882H SRSF2_p.P95H DNMT3A_c.555+1G>A( CEBPA_p.L331R NRAS_p.G12 TET2_p.R1261C NPM1_p.L287fs DNMT3A_p.A53fs DNMT3A_p.V895M TET2_p.L1329R ASXL1_p.G642fs RUNX1_p.241_245del ASXL1_p.G642fs TET2_p.1243_1244del TET2_p.Q1547X RAD21_p.373_373del NPM1_p.L287fs RUNX1_p.L98fs U2AF1_p.S34F SETBP1_p.D868N RUNX1_p.R204Q U2AF1_p.R156H ASXL1_p.G642fs ASXL1_p.G642fs KRAS_p.G12V IDH2_p.R172 BCOR_p.638_643del PHF6_p.R116X U2AF1_p.S34F STAG2_p.Y636fs RUNX1_p.P125fs EZH2_c A>T NF1_p.R1830S RUNX1_p.K51fs NRAS_p.Q61 RUNX1_p.D198G KRAS_p.G12V CEBPA_p.E334K STAG2_p.R1033X EZH2_p.R25X RUNX1_p.R204X FLT3.ITD CEBPA_p.S299N TET2_p.R1516X SMC1A_splice(site PTPN11_p.A72V NRAS_p.G13R Mutation(present(at(MDS NRAS_p.G12A Mutation(gained(at(s.AML(transformation CEBPA_p.R297P 9

10 Supplementary Figure S8 Distribution of mutations in. (A) Co- mutations plots showing spectra of mutations in t- AML patients based on interval diagnosis of t- MDS. (B) Proportion of genetic ontogeny classes in t- AML patients 10

11 Supplementary Figure S9 Distribution of genetic ontogeny groups by age in an unselected AML cohort (DFCI). Patients with secondary- type mutations comprise 33% (14/42) of elderly AML patients and 24% (6/24) of younger de novo AML patients. #"pa-ents TP53"mutated De"Novo/Pan8AML Secondary8type 0 <"60 "60 11

12 Supplementary Figure S10 Chromosome 5 and 7 abnormalities are associated with TP53 mutations in all genetic ontogeny groups. 12

13 Supplementary Figure S11 - Secondary- type genetic alterations in non- M3 de novo AML (TCGA). Genetically- defined s- AML is more common among clinically- defined de novo AML patients 60 years of age than in clinically- defined de novo AML patients <60 years of age. (A) Distribution of mutations in de novo AML patients 60 and <60 years of age, demonstrating significant enrichment of secondary- type alterations (p = ) and TP53 mutations (p = 0.007) in older patients. (B) Patients with Secondary- type and TP53 mutations comprise 19% of elderly AML patients. (C) Clinically- defined de novo AML patients with secondary- type genetic alterations harbor more recurrent driver mutations than those with only de novo/pan- AML alterations. A B# Clinically(defined,, C# #"pa-ents de,novo,aml,(tcga), <"60 "60 TP53"mutated De"Novo/Pan8AML Secondary8type Gene$c&& Subtype:& Recurrent1Driver1Muta=ons Clinically(defined,de,novo,AML,(TCGA), Secondary*type TP531mutated De1Novo/Pan1AML Age Secondary*type TP531mutated De1Novo/Pan1AML 13

14 Supplementary Figure S12 - Overall survival by number of recurrent driver mutations. Kaplan- Meier estimates of overall survival are shown for s- AML and t- AML patients enrolled on NCT Curves show patients with 0-1 (black), 2-3 (green), 4-5 (blue) or >5 (red) driver mutations identified at the time of diagnosis. 14

15 Supplementary Figure S13 - Overall survival by bone marrow blast count. Kaplan- Meier estimates of overall survival are shown for s- AML and t- AML patients enrolled on NCT Curves show patients with 20-40% (black) or >40% (red) bone marrow blasts at time of diagnosis. 15

16 Supplementary Table S1 - Clinical and geographic characteristics of the entire sequenced cohort. Number (%) Patients Sites saml,,,,,,,,,,,,male,sex Amonafide, Arm Normal, Karyotype Complex, Karyotype North,America ,(37) 38,(49) 38,(49) 23,(29) 15,(19) 40,(51) Europe ,(56) 54,(58) 45,(48) 23,(25) 22,(24) 43,(46) Asia/Australia/South,America ,(52) 11,(48) 12,(52) 5,(22) 3,(13) 11,(48) Total ,(48) 103,(53) 95,(49) 51,(27) 40,(21) 94,(48) CR 16

17 Supplementary Table S2 - Clinical and cytogenetic characteristics of sequenced vs. unsequenced cohorts. Unsequenced Sequenced P+value Number'of'subjects Clinical'characteristics Age,*median*(range) 65*(20,84) 62*(19,*83) * Age,* 60*(%) 163*(68) 110*(57) Sex,*Male*(%) 131*(55) 103*(53) 0.77 AML*subtype,*sGAML*(%) 123*(51) 93*(48) Treatment*arm,*Amonafide*+*cytarabine*( 121*(51) 95*(49) 0.77 Response,*CR*(%) 102*(43) 94*(48) Cytogenetic'characteristics Unknown*(%) 48*(20) 24*(12) Normal*(%) 65*(27) 51*(26) Complex,*>3*abnormalities*(%) 56*(23) 40*(21) Monosomal*(%) 50*(21) 35*(18) G5/del(5q)*(%) 43*(18) 29*(15) G7/*del(7q)*(%) 44*(18) 32*(16) q23*(%) 14*(6) 10*(5) CBF*(%) 5*(2) 6*(3) G17*abn(17p)*(%) 19*(8) 17*(9) 1 All p- values by Fisher's exact test. P- values denoted with * are from a Wilcoxon rank- sum test. % is the percentage of the total number of patients in each class. 17

18 Supplementary Table S3 List of sequenced genes (test cohort) ANKRD26 FANCL NOTCH1 SF1 ASXL1 FLT3 NOTCH2 SF3A1 ATRX FOXP1 NPM1 SF3B1 BCOR GATA1 NRAS SH2B3 BCORL1 GATA2 PDS5B SMC1A BRAF GNAS PHF6 SMC3 BRCC3 IDH1 PIGA SRSF2 CBL IDH2 PRPF40B STAG1 CBLB IKZF1 PRPF8 STAG2 CDKN2A IRF1 PTEN STAT3 CEBPA JAK2 PTPN11 SUZ12 CREBBP JARID2 RAD21 TERC CSF1R KDM6A RIT1 TERT CSNK1A1 KIT RPL11 TET2 CTCF KRAS RPL23 TP53 CUX1 LAMB4 RPL26 U2AF1 DNMT3A LUC7L2 RPL5 U2AF2 EED MLL2 RPS7 WT1 EP300 MPL RUNX1 ZRSR2 ETV6 MYBL2 SETBP1 EZH2 NF1 SETD2 18

19 Supplementary Table S4 - Genomic coordinates (Hg19) of all target regions used for custom sequencing design. chr2: DNMT3A_e2 chr10: PTEN_e7 chr17: PRPF8_e5 chr2: DNMT3A_e3 chr10: PTEN_e8 chr17: PRPF8_e6 chr2: DNMT3A_e4 chr10: PTEN_e9 chr17: PRPF8_e7 chr2: DNMT3A_e5 chr17: STAT3_e20 chr17: PRPF8_e8 chr2: DNMT3A_e6 chr17: STAT3_e21 chr17: PRPF8_e9 chr2: DNMT3A_e7 chr1: RIT1_e1b chr17: PRPF8_e10 chr2: DNMT3A_e8 chr1: RIT1_e2 chr17: PRPF8_e11 chr2: DNMT3A_e9 chr1: RIT1_e3 chr17: PRPF8_e12 chr2: DNMT3A_e10 chr1: RIT1_e4 chr17: PRPF8_e13 chr2: DNMT3A_e11 chr1: RIT1_e5 chr17: PRPF8_e14 chr2: DNMT3A_e12 chr1: RIT1_e6 chr17: PRPF8_e15 chr2: DNMT3A_e13 chr1: NOTCH2_e1 chr17: PRPF8_e16 chr2: DNMT3A_e14 chr1: NOTCH2_e2 chr17: PRPF8_e17 chr2: DNMT3A_e15 chr1: NOTCH2_e3 chr17: PRPF8_e18 chr2: DNMT3A_e16 chr1: NOTCH2_e4 chr17: PRPF8_e19 chr2: DNMT3A_e17 chr1: NOTCH2_e5 chr17: PRPF8_e20 chr2: DNMT3A_e18 chr1: NOTCH2_e6 chr17: PRPF8_e21 chr2: DNMT3A_e19 chr1: NOTCH2_e7 chr17: PRPF8_e22 chr2: DNMT3A_e20 chr1: NOTCH2_e8 chr17: PRPF8_e23 chr2: DNMT3A_e21 chr1: NOTCH2_e9 chr17: PRPF8_e24 chr2: DNMT3A_e22 chr1: NOTCH2_e10 chr17: PRPF8_e25 chr2: DNMT3A_e23 chr1: NOTCH2_e11 chr17: PRPF8_e26 chr4: TET2_e3 chr1: NOTCH2_e12 chr17: PRPF8_e27 chr4: TET2_e4 chr1: NOTCH2_e13 chr17: PRPF8_e28 chr4: TET2_e5 chr1: NOTCH2_e14 chr17: PRPF8_e29 chr4: TET2_e6 chr1: NOTCH2_e15 chr17: PRPF8_e30 chr4: TET2_e7 chr1: NOTCH2_e16 chr17: PRPF8_e31 chr4: TET2_e8 chr1: NOTCH2_e17 chr17: PRPF8_e32 chr4: TET2_e9 chr1: NOTCH2_e18 chr17: PRPF8_e33 chr4: TET2_e10 chr1: NOTCH2_e19 chr17: PRPF8_e34 chr4: TET2_e11 chr1: NOTCH2_e20 chr17: PRPF8_e35 chr2: IDH1_e4 chr1: NOTCH2_e21 chr17: PRPF8_e36 chr15: IDH2_e4 chr1: NOTCH2_e22 chr17: PRPF8_e37 chr7: EZH2_e2 chr1: NOTCH2_e23 chr17: PRPF8_e38 chr7: EZH2_e3 chr1: NOTCH2_e24 chr17: PRPF8_e39 chr7: EZH2_e4 chr1: NOTCH2_e25 chr17: PRPF8_e40 chr7: EZH2_e5 chr1: NOTCH2_e26 chr17: PRPF8_e41 chr7: EZH2_e6 chr1: NOTCH2_e27 chr17: PRPF8_e42 chr7: EZH2_e7 chr1: NOTCH2_e28 chr17: PRPF8_e43 chr7: EZH2_e8 chr1: NOTCH2_e29 chr7: LUC7L2_e1 chr7: EZH2_e9 chr1: NOTCH2_e30 chr7: LUC7L2_e2 19

20 chr7: EZH2_e10 chr1: NOTCH2_e31 chr7: LUC7L2_e3 chr7: EZH2_e11 chr1: NOTCH2_e32 chr7: LUC7L2_e4 chr7: EZH2_e12 chr1: NOTCH2_e33 chr7: LUC7L2_e5 chr7: EZH2_e13 chr1: NOTCH2_e34 chr7: LUC7L2_e6 chr7: EZH2_e14 chr9: NOTCH1_e1 chr7: LUC7L2_e7 chr7: EZH2_e15 chr9: NOTCH1_e2 chr7: LUC7L2_e8 chr7: EZH2_e16 chr9: NOTCH1_e3 chr7: LUC7L2_e9 chr7: EZH2_e17 chr9: NOTCH1_e4 chr7: LUC7L2_e10 chr7: EZH2_e18 chr9: NOTCH1_e5 chrx: STAG2_e3 chr7: EZH2_e19 chr9: NOTCH1_e6 chrx: STAG2_e4 chr7: EZH2_e20 chr9: NOTCH1_e7 chrx: STAG2_e5 chr20: ASXL1_e1 chr9: NOTCH1_e8 chrx: STAG2_e6 chr20: ASXL1_e2 chr9: NOTCH1_e9 chrx: STAG2_e7 chr20: ASXL1_e4 chr9: NOTCH1_e10 chrx: STAG2_e8 chr20: ASXL1_e5 chr9: NOTCH1_e11 chrx: STAG2_e9 chr20: ASXL1_e6 chr9: NOTCH1_e12 chrx: STAG2_e10 chr20: ASXL1_e7 chr9: NOTCH1_e13 chrx: STAG2_e11 chr20: ASXL1_e8 chr9: NOTCH1_e14 chrx: STAG2_e12 chr20: ASXL1_e9 chr9: NOTCH1_e15 chrx: STAG2_e13 chr20: ASXL1_e10 chr9: NOTCH1_e16 chrx: STAG2_e14 chr20: ASXL1_e11 chr9: NOTCH1_e17 chrx: STAG2_e15 chr20: ASXL1_e12 chr9: NOTCH1_e18 chrx: STAG2_e16 chr20: ASXL1_e13 chr9: NOTCH1_e19 chrx: STAG2_e17 chr11: EED_e1 chr9: NOTCH1_e20 chrx: STAG2_e18 chr11: EED_e2 chr9: NOTCH1_e21 chrx: STAG2_e19 chr11: EED_e3 chr9: NOTCH1_e22 chrx: STAG2_e20 chr11: EED_e4 chr9: NOTCH1_e23 chrx: STAG2_e21 chr11: EED_e5 chr9: NOTCH1_e24 chrx: STAG2_e22 chr11: EED_e6 chr9: NOTCH1_e25 chrx: STAG2_e23 chr11: EED_e7 chr9: NOTCH1_e26 chrx: STAG2_e24 chr11: EED_e8 chr9: NOTCH1_e27 chrx: STAG2_e25 chr11: EED_e9 chr9: NOTCH1_e28 chrx: STAG2_e26 chr11: EED_e10 chr9: NOTCH1_e29 chrx: STAG2_e27 chr11: EED_e11 chr9: NOTCH1_e30 chrx: STAG2_e28 chr11: EED_e12 chr9: NOTCH1_e31 chrx: STAG2_e29 chr17: SUZ12_e1 chr9: NOTCH1_e32 chrx: STAG2_e30 chr17: SUZ12_e2 chr9: NOTCH1_e33 chrx: STAG2_e31 chr17: SUZ12_e3 chr9: NOTCH1_e34 chrx: STAG2_e32 chr17: SUZ12_e4 chr12: ETV6_e1 chrx: STAG2_e33 chr17: SUZ12_e5 chr12: ETV6_e2 chrx: STAG2_e34 chr17: SUZ12_e6 chr12: ETV6_e3 chrx: STAG2_e35 chr17: SUZ12_e7 chr12: ETV6_e4 chr8: RAD21_e2 chr17: SUZ12_e8 chr12: ETV6_e5 chr8: RAD21_e3 chr17: SUZ12_e9 chr12: ETV6_e6 chr8: RAD21_e4 chr17: SUZ12_e10 chr12: ETV6_e7 chr8: RAD21_e5 20

21 chr17: SUZ12_e11 chr12: ETV6_e8 chr8: RAD21_e6 chr17: SUZ12_e12 chr19: CEBPA_e1 chr8: RAD21_e7 chr17: SUZ12_e13 chr21: RUNX1_e1 chr8: RAD21_e8 chr17: SUZ12_e14 chr21: RUNX1_e2 chr8: RAD21_e9 chr17: SUZ12_e15 chr21: RUNX1_e3 chr8: RAD21_e10 chr17: SUZ12_e16 chr21: RUNX1_e4 chr8: RAD21_e11 chr12: MLL2_e1 chr21: RUNX1_e5 chr8: RAD21_e12 chr12: MLL2_e2 chr21: RUNX1_e6 chr8: RAD21_e13 chr12: MLL2_e3 chr21: RUNX1_e7 chr8: RAD21_e14 chr12: MLL2_e4 chr21: RUNX1_e8 chr10: SMC3_e1 chr12: MLL2_e5 chr3: GATA2_e2 chr10: SMC3_e2 chr12: MLL2_e6 chr3: GATA2_e3 chr10: SMC3_e3 chr12: MLL2_e7 chr3: GATA2_e4 chr10: SMC3_e4 chr12: MLL2_e8 chr3: GATA2_e5 chr10: SMC3_e5 chr12: MLL2_e9 chr3: GATA2_e6 chr10: SMC3_e6 chr12: MLL2_e10 chrx: PHF6_e2 chr10: SMC3_e7 chr12: MLL2_e11 chrx: PHF6_e3 chr10: SMC3_e8 chr12: MLL2_e12 chrx: PHF6_e4 chr10: SMC3_e9 chr12: MLL2_e13 chrx: PHF6_e5 chr10: SMC3_e10 chr12: MLL2_e14 chrx: PHF6_e6 chr10: SMC3_e11 chr12: MLL2_e15 chrx: PHF6_e7 chr10: SMC3_e12 chr12: MLL2_e16 chrx: PHF6_e8 chr10: SMC3_e13 chr12: MLL2_e17 chrx: PHF6_e9 chr10: SMC3_e14 chr12: MLL2_e18 chrx: PHF6_e10 chr10: SMC3_e15 chr12: MLL2_e19 chr11: WT1_e1 chr10: SMC3_e16 chr12: MLL2_e20 chr11: WT1_e2 chr10: SMC3_e17 chr12: MLL2_e21 chr11: WT1_e3 chr10: SMC3_e18 chr12: MLL2_e22 chr11: WT1_e4 chr10: SMC3_e19 chr12: MLL2_e23 chr11: WT1_e5 chr10: SMC3_e20 chr12: MLL2_e24 chr11: WT1_e6 chr10: SMC3_e21 chr12: MLL2_e25 chr11: WT1_e7 chr10: SMC3_e22 chr12: MLL2_e26 chr11: WT1_e8 chr10: SMC3_e23 chr12: MLL2_e27 chr11: WT1_e9 chr10: SMC3_e24 chr12: MLL2_e28 chr11: WT1_e10 chr10: SMC3_e25 chr12: MLL2_e29 chr17: TP53_e2 chr10: SMC3_e26 chr12: MLL2_e30 chr17: TP53_e3 chr10: SMC3_e27 chr12: MLL2_e31 chr17: TP53_e4 chr10: SMC3_e28 chr12: MLL2_e32 chr17: TP53_e5 chr10: SMC3_e29 chr12: MLL2_e33 chr17: TP53_e6 chrx: SMC1A_e1 chr12: MLL2_e34 chr17: TP53_e7 chrx: SMC1A_e2 chr12: MLL2_e35 chr17: TP53_e8 chrx: SMC1A_e3 chr12: MLL2_e36 chr17: TP53_e9 chrx: SMC1A_e4 chr12: MLL2_e37 chr17: TP53_ea10 chrx: SMC1A_e5 chr12: MLL2_e38 chr17: TP53_e10 chrx: SMC1A_e6 chr12: MLL2_e39 chr17: TP53_e11 chrx: SMC1A_e7 21

22 chr12: MLL2_e40 chr22: EP300_e1 chrx: SMC1A_e8 chr12: MLL2_e41 chr22: EP300_e2 chrx: SMC1A_e9 chr12: MLL2_e42 chr22: EP300_e3 chrx: SMC1A_e10 chr12: MLL2_e43 chr22: EP300_e4 chrx: SMC1A_e11 chr12: MLL2_e44 chr22: EP300_e5 chrx: SMC1A_e12 chr12: MLL2_e45 chr22: EP300_e6 chrx: SMC1A_e13 chr12: MLL2_e46 chr22: EP300_e7 chrx: SMC1A_e14 chr12: MLL2_e47 chr22: EP300_e8 chrx: SMC1A_e15 chr12: MLL2_e48 chr22: EP300_e9 chrx: SMC1A_e16 chr12: MLL2_e49 chr22: EP300_e10 chrx: SMC1A_e17 chr12: MLL2_e50 chr22: EP300_e11 chrx: SMC1A_e18 chr12: MLL2_e51 chr22: EP300_e12 chrx: SMC1A_e19 chr12: MLL2_e52 chr22: EP300_e13 chrx: SMC1A_e20 chr12: MLL2_e53 chr22: EP300_e14 chrx: SMC1A_e21 chr12: MLL2_e54 chr22: EP300_e15 chrx: SMC1A_e22 chrx: ATRX_e1 chr22: EP300_e16 chrx: SMC1A_e23 chrx: ATRX_e2 chr22: EP300_e17 chrx: SMC1A_e24 chrx: ATRX_e3 chr22: EP300_e18 chrx: SMC1A_e25 chrx: ATRX_e4 chr22: EP300_e19 chr3: STAG1_e2 chrx: ATRX_e5 chr22: EP300_e20 chr3: STAG1_e3 chrx: ATRX_e6 chr22: EP300_e21 chr3: STAG1_e4 chrx: ATRX_e7 chr22: EP300_e22 chr3: STAG1_e5 chrx: ATRX_e8 chr22: EP300_e23 chr3: STAG1_e6 chrx: ATRX_e9 chr22: EP300_e24 chr3: STAG1_e7 chrx: ATRX_e10 chr22: EP300_e25 chr3: STAG1_e8 chrx: ATRX_e11 chr22: EP300_e26 chr3: STAG1_e9 chrx: ATRX_e12 chr22: EP300_e27 chr3: STAG1_e10 chrx: ATRX_e13 chr22: EP300_e28 chr3: STAG1_e11 chrx: ATRX_e14 chr22: EP300_e29 chr3: STAG1_e12 chrx: ATRX_e15 chr22: EP300_e30 chr3: STAG1_e13 chrx: ATRX_e16 chr22: EP300_e31 chr3: STAG1_e14 chrx: ATRX_e17 chr5: IRF1_e2 chr3: STAG1_e15 chrx: ATRX_e18 chr5: IRF1_e3 chr3: STAG1_e16 chrx: ATRX_e19 chr5: IRF1_e4 chr3: STAG1_e17 chrx: ATRX_e20 chr5: IRF1_e5 chr3: STAG1_e18 chrx: ATRX_e21 chr5: IRF1_e6 chr3: STAG1_e19 chrx: ATRX_e22 chr5: IRF1_e7 chr3: STAG1_e20 chrx: ATRX_e23 chr5: IRF1_e8 chr3: STAG1_e21 chrx: ATRX_e24 chr5: IRF1_e9 chr3: STAG1_e22 chrx: ATRX_e25 chr5: IRF1_e10 chr3: STAG1_e23 chrx: ATRX_e26 chr16: CREBBP_e1 chr3: STAG1_e24 chrx: ATRX_e27 chr16: CREBBP_e2 chr3: STAG1_e25 chrx: ATRX_e28 chr16: CREBBP_e3 chr3: STAG1_e26 chrx: ATRX_e29 chr16: CREBBP_e4 chr3: STAG1_e27 chrx: ATRX_e30 chr16: CREBBP_e5 chr3: STAG1_e28 22

23 chrx: ATRX_e31 chr16: CREBBP_e6 chr3: STAG1_e29 chrx: ATRX_e32 chr16: CREBBP_e7 chr3: STAG1_e30 chrx: ATRX_e33 chr16: CREBBP_e8 chr3: STAG1_e31 chrx: ATRX_e34 chr16: CREBBP_e9 chr3: STAG1_e32 chrx: ATRX_e35 chr16: CREBBP_e10 chr3: STAG1_e33 chrx: BCOR_e2 chr16: CREBBP_e11 chr3: STAG1_e34 chrx: BCOR_e3 chr16: CREBBP_e12 chr13: PDS5B_e3 chrx: BCOR_e4 chr16: CREBBP_e13 chr13: PDS5B_e4 chrx: BCOR_e5 chr16: CREBBP_e14 chr13: PDS5B_e5 chrx: BCOR_e6 chr16: CREBBP_e15 chr13: PDS5B_e6 chrx: BCOR_e7 chr16: CREBBP_e16 chr13: PDS5B_e7 chrx: BCOR_e8 chr16: CREBBP_e17 chr13: PDS5B_e8 chrx: BCOR_e9 chr16: CREBBP_e18 chr13: PDS5B_e9 chrx: BCOR_e10 chr16: CREBBP_e19 chr13: PDS5B_e10 chrx: BCOR_e11 chr16: CREBBP_e20 chr13: PDS5B_e11 chrx: BCOR_e12 chr16: CREBBP_e21 chr13: PDS5B_e12 chrx: BCOR_e13 chr16: CREBBP_e22 chr13: PDS5B_e13 chrx: BCOR_e14 chr16: CREBBP_e23 chr13: PDS5B_e14 chrx: BCOR_e15 chr16: CREBBP_e24 chr13: PDS5B_e15 chrx: KDM6A_e1 chr16: CREBBP_e25 chr13: PDS5B_e16 chrx: KDM6A_e2 chr16: CREBBP_e26 chr13: PDS5B_e17 chrx: KDM6A_e3 chr16: CREBBP_e27 chr13: PDS5B_e18 chrx: KDM6A_e4 chr16: CREBBP_e28 chr13: PDS5B_e19 chrx: KDM6A_e5 chr16: CREBBP_e29 chr13: PDS5B_e20 chrx: KDM6A_e6 chr16: CREBBP_e30 chr13: PDS5B_e21 chrx: KDM6A_e7 chr16: CREBBP_e31 chr13: PDS5B_e22 chrx: KDM6A_e8 chr3: FOXP1_e6 chr13: PDS5B_e23 chrx: KDM6A_e9 chr3: FOXP1_e7 chr13: PDS5B_e24 chrx: KDM6A_e10 chr3: FOXP1_e8 chr13: PDS5B_e25 chrx: KDM6A_e11 chr3: FOXP1_e9 chr13: PDS5B_e26 chrx: KDM6A_e12 chr3: FOXP1_e10 chr13: PDS5B_e27 chrx: KDM6A_e13 chr3: FOXP1_e11 chr13: PDS5B_e28 chrx: KDM6A_e14 chr3: FOXP1_e12 chr13: PDS5B_e29 chrx: KDM6A_e15 chr3: FOXP1_e13 chr13: PDS5B_e30 chrx: KDM6A_e16 chr3: FOXP1_e14 chr13: PDS5B_e31 chrx: KDM6A_e17 chr3: FOXP1_e15 chr13: PDS5B_e32 chrx: KDM6A_e18 chr3: FOXP1_e16 chr13: PDS5B_e33 chrx: KDM6A_e19 chr3: FOXP1_e17 chr13: PDS5B_e34 chrx: KDM6A_e20 chr3: FOXP1_e18 chr13: PDS5B_e35 chrx: KDM6A_e21 chr3: FOXP1_e19 chr5: NPM1_e10 chrx: KDM6A_e22 chr3: FOXP1_e20 chr5: NPM1_e11 chrx: KDM6A_e23 chr3: FOXP1_e21 chr18: SETBP1_e2 chrx: KDM6A_e24 chr7: IKZF1_e2 chr18: SETBP1_e3 chrx: KDM6A_e25 chr7: IKZF1_e3 chr18: SETBP1_e4 chrx: KDM6A_e26 chr7: IKZF1_e4 chr18: SETBP1_e5 23

24 chrx: KDM6A_e27 chr7: IKZF1_e5 chr18: SETBP1_e6 chrx: KDM6A_e28 chr7: IKZF1_e6 chr9: CDKN2A_e1a chrx: KDM6A_e29 chr7: IKZF1_e7 chr9: CDKN2A_e1b chr6: JARID2_e1 chr7: IKZF1_e8 chr9: CDKN2A_e2 chr6: JARID2_e2 chr16: CTCF_e3 chr9: CDKN2A_e3a chr6: JARID2_e3 chr16: CTCF_e4 chr9: CDKN2A_e3b chr6: JARID2_e4 chr16: CTCF_e5 chr20: MYBL2_e1 chr6: JARID2_e5 chr16: CTCF_e6 chr20: MYBL2_e2 chr6: JARID2_e6 chr16: CTCF_e7 chr20: MYBL2_e3 chr6: JARID2_e7 chr16: CTCF_e8 chr20: MYBL2_e4 chr6: JARID2_e8 chr16: CTCF_e9 chr20: MYBL2_e5 chr6: JARID2_e9 chr16: CTCF_e10 chr20: MYBL2_e6 chr6: JARID2_e10 chr16: CTCF_e11 chr20: MYBL2_e7 chr6: JARID2_e11 chr16: CTCF_e12 chr20: MYBL2_e8 chr6: JARID2_e12 chrx: GATA1_e2 chr20: MYBL2_e9 chr6: JARID2_e13 chrx: GATA1_e3 chr20: MYBL2_e10 chr6: JARID2_e14 chrx: GATA1_e4 chr20: MYBL2_e11 chr6: JARID2_e15 chrx: GATA1_e5 chr20: MYBL2_e12 chr6: JARID2_e16 chrx: GATA1_e6 chr20: MYBL2_e13 chr6: JARID2_e17 chr7: CUX1_e1 chr20: MYBL2_e14 chr6: JARID2_e18 chr7: CUX1_e2 chr3: TERC_e1 chrx: BCORL1_e1 chr7: CUX1_e3 chr5: TERT_e1_core_promoter chrx: BCORL1_e2 chr7: CUX1_e4 chr5: TERT_e2 chrx: BCORL1_e3 chr7: CUX1_e5 chr5: TERT_e3 chrx: BCORL1_e4 chr7: CUX1_e6 chr5: TERT_e4 chrx: BCORL1_e5 chr7: CUX1_e7 chr5: TERT_e5 chrx: BCORL1_e6 chr7: CUX1_e8 chr5: TERT_e6 chrx: BCORL1_e7 chr7: CUX1_e9 chr5: TERT_e7 chrx: BCORL1_e8 chr7: CUX1_e10 chr5: TERT_e8 chrx: BCORL1_e9 chr7: CUX1_e11 chr5: TERT_e9 chrx: BCORL1_e10 chr7: CUX1_e12 chr5: TERT_e10 chrx: BCORL1_e11 chr7: CUX1_e13 chr5: TERT_e11 chrx: BCORL1_e12 chr7: CUX1_e14 chr5: TERT_e12 chr3: SETD2_e1 chr7: CUX1_e15a chr5: TERT_e13 chr3: SETD2_e2 chr7: CUX1_e16a chr5: TERT_e14 chr3: SETD2_e3 chr7: CUX1_e17a chr5: TERT_e15 chr3: SETD2_e4 chr7: CUX1_e18a chr5: TERT_e16 chr3: SETD2_e5 chr7: CUX1_e19a chrx: PIGA_e2 chr3: SETD2_e6 chr7: CUX1_e20a chrx: PIGA_e3 chr3: SETD2_e7 chr7: CUX1_e21a chrx: PIGA_e4 chr3: SETD2_e8 chr7: CUX1_e22a chrx: PIGA_e5 chr3: SETD2_e9 chr7: CUX1_e23a chrx: PIGA_e6 chr3: SETD2_e10 chr7: CUX1_e24 chr10: ANKRD26_5UTR chr3: SETD2_e11 chr7: CUX1_e15b chr2: FANCL_e1 chr3: SETD2_e12 chr7: CUX1_e16b chr2: FANCL_e2 24

25 chr3: SETD2_e13 chr7: CUX1_e17b chr2: FANCL_e3 chr3: SETD2_e14 chr7: CUX1_e18b chr2: FANCL_e4 chr3: SETD2_e15 chr7: CUX1_e19b chr2: FANCL_e5 chr3: SETD2_e16 chr7: CUX1_e20b chr2: FANCL_e6 chr3: SETD2_e17 chr7: CUX1_e21b chr2: FANCL_e7 chr3: SETD2_e18 chr7: CUX1_e22b chr2: FANCL_e8 chr3: SETD2_e19 chr7: CUX1_e23b chr2: FANCL_e9 chr3: SETD2_e20 chr2: SF3B1_e1 chr2: FANCL_e10 chr3: SETD2_e21 chr2: SF3B1_e2 chr2: FANCL_e11 chr1: NRAS_e2 chr2: SF3B1_e3 chr2: FANCL_e12 chr1: NRAS_e3 chr2: SF3B1_e4 chr2: FANCL_e13 chr1: NRAS_e4 chr2: SF3B1_e5 chr2: FANCL_e14 chr1: NRAS_e5 chr2: SF3B1_e6 chr1: RPL11_e1 chr11: CBL_e8 chr2: SF3B1_e7 chr1: RPL11_e2 chr11: CBL_e9 chr2: SF3B1_e8 chr1: RPL11_e3 chr9: JAK2_e12 chr2: SF3B1_e9 chr1: RPL11_e4 chr9: JAK2_e14 chr2: SF3B1_e10 chr1: RPL11_e5 chr12: KRAS_e2 chr2: SF3B1_e11 chr1: RPL11_e6 chr12: KRAS_e3 chr2: SF3B1_e12 chr17: RPL23_e1 chr12: KRAS_e4 chr2: SF3B1_e13 chr17: RPL23_e2 chr12: KRAS_e5 chr2: SF3B1_e14 chr17: RPL23_e3 chr7: BRAF_e15 chr2: SF3B1_e15 chr17: RPL23_e4 chr3: CBLB_e9 chr2: SF3B1_e16 chr17: RPL23_e5 chr3: CBLB_e10 chr2: SF3B1_e17 chr1: RPL5_e1 chr1: MPL_e10 chr2: SF3B1_e18 chr1: RPL5_e2 chr4: KIT_e8 chr2: SF3B1_e19 chr1: RPL5_e3 chr4: KIT_e11 chr2: SF3B1_e20 chr1: RPL5_e4 chr4: KIT_e17 chr2: SF3B1_e21 chr1: RPL5_e5 chr13: FLT3_e14_15 chr2: SF3B1_e22 chr1: RPL5_e6 chr13: FLT3_e20 chr2: SF3B1_e23 chr1: RPL5_e7 chr20: GNAS_e8 chr2: SF3B1_e24 chr1: RPL5_e8 chr20: GNAS_e9 chr2: SF3B1_e25 chr17: RPL26_e2 chr17: NF1_e1 chr21: U2AF1_e2 chr17: RPL26_e3 chr17: NF1_e2 chr21: U2AF1_e6 chr17: RPL26_e4 chr17: NF1_e3 chr19: U2AF2_e1 chr2: RPS7_e2 chr17: NF1_e4 chr19: U2AF2_e2 chr2: RPS7_e3 chr17: NF1_e5 chr19: U2AF2_e3 chr2: RPS7_e4 chr17: NF1_e6 chr19: U2AF2_e4 chr2: RPS7_e5 chr17: NF1_e7 chr19: U2AF2_e5 chr2: RPS7_e6 chr17: NF1_e8 chr19: U2AF2_e6 chr2: RPS7_e7 chr17: NF1_e9 chr19: U2AF2_e7 chr7: LAMB4_e2 chr17: NF1_e10 chr19: U2AF2_e8 chr7: LAMB4_e3 chr17: NF1_e11 chr19: U2AF2_e9 chr7: LAMB4_e4 chr17: NF1_e12 chr19: U2AF2_e10 chr7: LAMB4_e5 chr17: NF1_e13 chr19: U2AF2_e11 chr7: LAMB4_e6 25

26 chr17: NF1_e14 chr19: U2AF2_e12 chr7: LAMB4_e7 chr17: NF1_e15 chr11: SF1_e1 chr7: LAMB4_e8 chr17: NF1_e16 chr11: SF1_e2 chr7: LAMB4_e9 chr17: NF1_e17 chr11: SF1_e3 chr7: LAMB4_e10 chr17: NF1_e18 chr11: SF1_e4 chr7: LAMB4_e11 chr17: NF1_e19 chr11: SF1_e5 chr7: LAMB4_e12 chr17: NF1_e20 chr11: SF1_e6 chr7: LAMB4_e13 chr17: NF1_e21 chr11: SF1_e7 chr7: LAMB4_e14 chr17: NF1_e22 chr11: SF1_e8 chr7: LAMB4_e15 chr17: NF1_e23 chr11: SF1_e9 chr7: LAMB4_e16 chr17: NF1_e24 chr11: SF1_e10 chr7: LAMB4_e17 chr17: NF1_e25 chr11: SF1_e11 chr7: LAMB4_e18 chr17: NF1_e26 chr11: SF1_e12 chr7: LAMB4_e19 chr17: NF1_e27 chr11: SF1_e13 chr7: LAMB4_e20 chr17: NF1_e28 chr11: SF1_e14 chr7: LAMB4_e21 chr17: NF1_e29 chr11: SF1_ea13 chr7: LAMB4_e22 chr17: NF1_e30 chr11: SF1_ea1 chr7: LAMB4_e23 chr17: NF1_e31 chrx: ZRSR2_e1 chr7: LAMB4_e24 chr17: NF1_e32 chrx: ZRSR2_e2 chr7: LAMB4_e25 chr17: NF1_e33 chrx: ZRSR2_e3 chr7: LAMB4_e26 chr17: NF1_e34 chrx: ZRSR2_e4 chr7: LAMB4_e27 chr17: NF1_e35 chrx: ZRSR2_e5 chr7: LAMB4_e28 chr17: NF1_e36 chrx: ZRSR2_e6 chr7: LAMB4_e29 chr17: NF1_e37 chrx: ZRSR2_e7 chr7: LAMB4_e30 chr17: NF1_e38 chrx: ZRSR2_e8 chr7: LAMB4_e31 chr17: NF1_e39 chrx: ZRSR2_e9 chr7: LAMB4_e32 chr17: NF1_e40 chrx: ZRSR2_e10 chr7: LAMB4_e33 chr17: NF1_e41 chrx: ZRSR2_e11 chr7: LAMB4_e34 chr17: NF1_e42 chrx: ZRSR2v4_e4 chr7: LAMB4_e35 chr17: NF1_e43 chr17: SRSF2_e1 chrx: BRCC3_e1 chr17: NF1_e44 chr12: PRPF40B_e1 chrx: BRCC3_e2 chr17: NF1_e45 chr12: PRPF40B_e2 chrx: BRCC3_e3 chr17: NF1_e46 chr12: PRPF40B_e3 chrx: BRCC3_e4 chr17: NF1_e47 chr12: PRPF40B_e4 chrx: BRCC3_e5 chr17: NF1_e48 chr12: PRPF40B_e5 chrx: BRCC3_e6 chr17: NF1_e49 chr12: PRPF40B_e6 chrx: BRCC3_e7 chr17: NF1_e50 chr12: PRPF40B_e7 chrx: BRCC3_e8 chr17: NF1_e51 chr12: PRPF40B_e8 chrx: BRCC3_e9 chr17: NF1_e52 chr12: PRPF40B_e9 chrx: BRCC3_e10 chr17: NF1_e53 chr12: PRPF40B_e10 chrx: BRCC3_e11 chr17: NF1_e54 chr12: PRPF40B_e11 chr5: CSNK1A1_e1 chr17: NF1_e55 chr12: PRPF40B_e12 chr5: CSNK1A1_e2 chr17: NF1_e56 chr12: PRPF40B_e13 chr5: CSNK1A1_e3 chr17: NF1_e57 chr12: PRPF40B_e14 chr5: CSNK1A1_e4 chr17: NF1_e58 chr12: PRPF40B_e15 chr5: CSNK1A1_e5 26

27 chr12: PTPN11_e1 chr12: PRPF40B_e16 chr5: CSNK1A1_e6 chr12: PTPN11_e2 chr12: PRPF40B_e17 chr5: CSNK1A1_e7 chr12: PTPN11_e3 chr12: PRPF40B_e18 chr5: CSNK1A1_e8 chr12: PTPN11_e4 chr12: PRPF40B_e19 chr5: CSNK1A1_e9 chr12: PTPN11_e5 chr12: PRPF40B_e20 chr5: CSNK1A1_e10 chr12: PTPN11_e6 chr12: PRPF40B_e21 chr5: CSNK1A1_e11 chr12: PTPN11_e7 chr12: PRPF40B_e22 chr1: chr12: PTPN11_e8 chr12: PRPF40B_e23 chr2: chr12: PTPN11_e9 chr12: PRPF40B_e24 chr2: chr12: PTPN11_e10 chr12: PRPF40B_e25 chr3: chr12: PTPN11_e11 chr22: SF3A1_e1 chr3: chr12: PTPN11_e12 chr22: SF3A1_e2 chr3: chr12: PTPN11_e13 chr22: SF3A1_e3 chr4: chr12: PTPN11_e14 chr22: SF3A1_e4 chr5: chr12: PTPN11_e15 chr22: SF3A1_e5 chr6: chr12: SH2B3_e2 chr22: SF3A1_e6 chr6: chr12: SH2B3_e3 chr22: SF3A1_e7 chr7: chr12: SH2B3_e4 chr22: SF3A1_e8 chr8: chr12: SH2B3_e5 chr22: SF3A1_e9 chr10: chr12: SH2B3_e6 chr22: SF3A1_e10 chr13: chr12: SH2B3_e7 chr22: SF3A1_e11 chr14: chr12: SH2B3_e8 chr22: SF3A1_e12 chr15: chr5: CSF1R_e22 chr22: SF3A1_e13 chr16: chr10: PTEN_e1 chr22: SF3A1_e14 chr17: chr10: PTEN_e2 chr22: SF3A1_e15 chr17: chr10: PTEN_e3 chr22: SF3A1_e16 chr22: chr10: PTEN_e4 chr17: PRPF8_e2 chrx: chr10: PTEN_e5 chr10: PTEN_e6 chr17: PRPF8_e3 chr17: PRPF8_e4 27

Next Generation Sequencing in Haematological Malignancy: A European Perspective. Wolfgang Kern, Munich Leukemia Laboratory

Next Generation Sequencing in Haematological Malignancy: A European Perspective. Wolfgang Kern, Munich Leukemia Laboratory Next Generation Sequencing in Haematological Malignancy: A European Perspective Wolfgang Kern, Munich Leukemia Laboratory Diagnostic Methods Cytomorphology Cytogenetics Immunophenotype Histology FISH Molecular

More information

Illumina Trusight Myeloid Panel validation A R FHAN R A FIQ

Illumina Trusight Myeloid Panel validation A R FHAN R A FIQ Illumina Trusight Myeloid Panel validation A R FHAN R A FIQ G E NETIC T E CHNOLOGIST MEDICAL G E NETICS, CARDIFF To Cover Background to the project Choice of panel Validation process Genes on panel, Protocol

More information

The Center for PERSONALIZED DIAGNOSTICS

The Center for PERSONALIZED DIAGNOSTICS The Center for PERSONALIZED DIAGNOSTICS Precision Diagnostics for Personalized Medicine A joint initiative between The Department of Pathology and Laboratory Medicine & The Abramson Cancer Center The (CPD)

More information

NeoTYPE Cancer Profiles

NeoTYPE Cancer Profiles NeoTYPE Cancer Profiles Multimethod Analysis of 25+ Hematologic Diseases and Solid Tumors Anatomic Pathology FISH Molecular The next generation of diagnostic, prognostic, and therapeutic assessment NeoTYPE

More information

NeoTYPE Cancer Profiles

NeoTYPE Cancer Profiles NeoTYPE Cancer Profiles 30+ Multimethod Assays for Hematologic Diseases and Solid Tumors Molecular FISH Anatomic Pathology The next generation of diagnostic, prognostic, and therapeutic assessment What

More information

7/12/2016 TESTING. Objectives. New Directions in Aplastic Anemia: What's on the Horizon? Better way to evaluate clonal evolution?

7/12/2016 TESTING. Objectives. New Directions in Aplastic Anemia: What's on the Horizon? Better way to evaluate clonal evolution? New Directions in Aplastic Anemia: What's on the Horizon? Amy E. DeZern, MD; MHS Assistant Professor Hematologic Malignancies Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins Baltimore, MD Objectives

More information

Laboratory Service Report

Laboratory Service Report Client C7028846-DLP Rochester Rochester, N 55901 Specimen Type Peripheral blood CR PDF Report available at: https://test.mmlaccess.com/reports/c7028846-zwselwql7p.ashx Indication for Test DS CR Pathogenic

More information

The preclinical efficacy of a novel telomerase inhibitor, imetelstat, in AML: A randomized trial in patient-derived xenografts

The preclinical efficacy of a novel telomerase inhibitor, imetelstat, in AML: A randomized trial in patient-derived xenografts The preclinical efficacy of a novel telomerase inhibitor, imetelstat, in AML: A randomized trial in patient-derived xenografts Claudia Bruedigam, Ph.D Gordon and Jessie Gilmour Leukaemia Research Laboratory

More information

Next generation sequencing analysis - A UK perspective. Nicholas Lea

Next generation sequencing analysis - A UK perspective. Nicholas Lea Next generation sequencing analysis - A UK perspective Nicholas Lea King s HMDC LMH is part of an integrated pathology service at King s Haematological Malignancy Diagnostic Centre (HMDC) HMDC serves population

More information

Supplementary Appendix

Supplementary Appendix Supplementary Appendix This appendix has been provided by the authors to give readers additional information about their work. Supplement to: Lindsley RC, Saber W, Mar BG, et al. Prognostic mutations in

More information

Examining Genetics and Genomics of Acute Myeloid Leukemia in 2017

Examining Genetics and Genomics of Acute Myeloid Leukemia in 2017 Examining Genetics and Genomics of Acute Myeloid Leukemia in 2017 Elli Papaemmanuil, PhD Memorial Sloan Kettering Cancer Center New York, New York, United States Today s Talk Cancer genome introduction

More information

Blastic Plasmacytoid Dendritic Cell Neoplasm with DNMT3A and TET2 mutations (SH )

Blastic Plasmacytoid Dendritic Cell Neoplasm with DNMT3A and TET2 mutations (SH ) Blastic Plasmacytoid Dendritic Cell Neoplasm with DNMT3A and TET2 mutations (SH2017-0314) Habibe Kurt, Joseph D. Khoury, Carlos E. Bueso-Ramos, Jeffrey L. Jorgensen, Guilin Tang, L. Jeffrey Medeiros, and

More information

Out-Patient Billing CPT Codes

Out-Patient Billing CPT Codes Out-Patient Billing CPT Codes Updated Date: August 3, 08 Client Billed Molecular Tests HPV DNA Tissue Testing 8764 No Medicare Billed - Molecular Tests NeoARRAY NeoARRAY SNP/Cytogenetic No 89 NeoLAB NeoLAB

More information

Laboratory Service Report

Laboratory Service Report Specimen Type Peripheral blood CR PDF Report available at: https://test.mmlaccess.com/reports/c7028846-ih2xuglwpq.ashx Indication for Test DS CR Pathogenic utations Detected CR 1. JAK2: c.1849g>t;p.val617phe

More information

Patricia Aoun MD, MPH Professor and Vice-Chair for Clinical Affairs Medical Director, Clinical Laboratories Department of Pathology City of Hope

Patricia Aoun MD, MPH Professor and Vice-Chair for Clinical Affairs Medical Director, Clinical Laboratories Department of Pathology City of Hope Patricia Aoun MD, MPH Professor and Vice-Chair for Clinical Affairs Medical Director, Clinical Laboratories Department of Pathology City of Hope National Medical Center Disclosures I have no disclosures

More information

Published Ahead of Print on April 14, 2016, as doi: /haematol Copyright 2016 Ferrata Storti Foundation.

Published Ahead of Print on April 14, 2016, as doi: /haematol Copyright 2016 Ferrata Storti Foundation. Published Ahead of Print on April 14, 2016, as doi:10.3324/haematol.2016.143214. Copyright 2016 Ferrata Storti Foundation. Immunohistochemical pattern of p53 is a measure of TP53 mutation burden and adverse

More information

Supplementary Figure 1

Supplementary Figure 1 Count Count Supplementary Figure 1 Coverage per amplicon for error-corrected sequencing experiments. Errorcorrected consensus sequence (ECCS) coverage was calculated for each of the 568 amplicons in the

More information

Supplemental Material. The new provisional WHO entity RUNX1 mutated AML shows specific genetics without prognostic influence of dysplasia

Supplemental Material. The new provisional WHO entity RUNX1 mutated AML shows specific genetics without prognostic influence of dysplasia Supplemental Material The new provisional WHO entity RUNX1 mutated AML shows specific genetics without prognostic influence of dysplasia Torsten Haferlach, 1 Anna Stengel, 1 Sandra Eckstein, 1 Karolína

More information

Concomitant WT1 mutations predicted poor prognosis in CEBPA double-mutated acute myeloid leukemia

Concomitant WT1 mutations predicted poor prognosis in CEBPA double-mutated acute myeloid leukemia Concomitant WT1 mutations predicted poor prognosis in CEBPA double-mutated acute myeloid leukemia Feng-Ming Tien, Hsin-An Hou, Jih-Luh Tang, Yuan-Yeh Kuo, Chien-Yuan Chen, Cheng-Hong Tsai, Ming Yao, Chi-Cheng

More information

August 17, Dear Valued Client:

August 17, Dear Valued Client: August 7, 08 Re: CMS Announces 6-Month Period of Enforcement Discretion for Laboratory Date of Service Exception Policy Under the Medicare Clinical Laboratory Fee Schedule (the 4 Day Rule ) Dear Valued

More information

SESSION 1 Reactive cytopenia and dysplasia

SESSION 1 Reactive cytopenia and dysplasia SESSION 1 Reactive cytopenia and dysplasia Falko Fend, Tübingen & Alexandar Tzankov, Basel 1 Disclosure of speaker s interests (Potential) conflict of interest none Potentially relevant company relationships

More information

Supplementary Appendix

Supplementary Appendix Supplementary Appendix This appendix has been provided by the authors to give readers additional information about their work. Supplement to: Patel JP, Gönen M, Figueroa ME, et al. Prognostic relevance

More information

Introduction of an NGS gene panel into the Haemato-Oncology MPN service

Introduction of an NGS gene panel into the Haemato-Oncology MPN service Introduction of an NGS gene panel into the Haemato-Oncology MPN service Dr. Anna Skowronska, Dr Jane Bryon, Dr Samuel Clokie, Dr Yvonne Wallis and Professor Mike Griffiths West Midlands Regional Genetics

More information

The Evolving Role of Transplantation for MPN

The Evolving Role of Transplantation for MPN The Evolving Role of Transplantation for MPN (PMF, PV, ET) H.Joachim Deeg MD Fred Hutchinson Cancer Research Center, University of Washington, Seattle WA, SCCA jdeeg@fhcrc.org 10 th J. Niblack Conference

More information

Precision Medicine and Molecular Testing.

Precision Medicine and Molecular Testing. Precision Medicine and Molecular Testing. David A. Sallman, MD Assistant Member Department of Malignant Hematology Moffitt Cancer Center david.sallman@moffitt.org Disclosures Research funding for Celgene

More information

Management of Myelodysplastic Syndromes

Management of Myelodysplastic Syndromes Management of Myelodysplastic Syndromes Peter L. Greenberg, MD Stanford Cancer Institute Myelodysplastic Syndromes: Clinical & Molecular Advances for Disease Classification and Prognostication MDSs: A

More information

Kevin Kelly, MD, Phd Acute Myeloid and Lymphoid Leukemias

Kevin Kelly, MD, Phd Acute Myeloid and Lymphoid Leukemias Kevin Kelly, MD, Phd Acute Myeloid and Lymphoid Leukemias Relevant financial relationships in the past twelve months by presenter or spouse/partner. Speakers bureau: Novartis, Janssen, Gilead, Bayer The

More information

Please Silence Your Cell Phones. Thank You

Please Silence Your Cell Phones. Thank You Please Silence Your Cell Phones Thank You Utility of NGS and Comprehensive Genomic Profiling in Hematopathology Practice Maria E. Arcila M.D. Memorial Sloan Kettering Cancer Center New York, NY Disclosure

More information

Molecular. Oncology & Pathology. Diagnostic, Prognostic, Therapeutic, and Predisposition Tests in Precision Medicine. Liquid Biopsy.

Molecular. Oncology & Pathology. Diagnostic, Prognostic, Therapeutic, and Predisposition Tests in Precision Medicine. Liquid Biopsy. Molecular Oncology & Pathology Hereditary Cancer Somatic Cancer Liquid Biopsy Next-Gen Sequencing qpcr Sanger Sequencing Diagnostic, Prognostic, Therapeutic, and Predisposition Tests in Precision Medicine

More information

Deep Learning Analytics for Predicting Prognosis of Acute Myeloid Leukemia with Cytogenetics, Age, and Mutations

Deep Learning Analytics for Predicting Prognosis of Acute Myeloid Leukemia with Cytogenetics, Age, and Mutations Deep Learning Analytics for Predicting Prognosis of Acute Myeloid Leukemia with Cytogenetics, Age, and Mutations Andy Nguyen, M.D., M.S. Medical Director, Hematopathology, Hematology and Coagulation Laboratory,

More information

SUPPLEMENTAL APPENDIX METZELER ET AL.: SPECTRUM AND PROGNOSTIC RELEVANCE OF DRIVER GENE MUTATIONS IN ACUTE MYELOID LEUKEMIA

SUPPLEMENTAL APPENDIX METZELER ET AL.: SPECTRUM AND PROGNOSTIC RELEVANCE OF DRIVER GENE MUTATIONS IN ACUTE MYELOID LEUKEMIA SUPPLEMENTAL APPENDIX TO METZELER ET AL.: SPECTRUM AND PROGNOSTIC RELEVANCE OF DRIVER GENE MUTATIONS IN ACUTE MYELOID LEUKEMIA SUPPLEMENTAL METHODS Treatment protocols In the AMLCG-1999 trial 1-3 (clinicaltrials.gov

More information

Pediatric Oncology & Pathology Services

Pediatric Oncology & Pathology Services Pediatric Oncology & Pathology Services Anatomic Pathology Flow Cytometry Cytogenetics Pharma Services Diagnostic, Prognostic, Predictive, and Predisposition Testing Pediatric Oncology & Pathology Services

More information

Enhancing Assessment of Myeloid Leukemia in the Era of Precision Medicine

Enhancing Assessment of Myeloid Leukemia in the Era of Precision Medicine Enhancing Assessment of Myeloid Leukemia in the Era of Precision Medicine Michelle Afkhami, M.D. Medical Director, Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center How the

More information

Enhancing Assessment of Myeloid Leukemia in the Era of Precision Medicine

Enhancing Assessment of Myeloid Leukemia in the Era of Precision Medicine Enhancing Assessment of Myeloid Leukemia in the Era of Precision Medicine Michelle Afkhami, M.D. Medical Director, Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center How the

More information

Click to edit Master /tle style

Click to edit Master /tle style Click to edit Master /tle style Tel: (314) 747-7337 Toll Free: (866) 450-7697 Fax: (314) 747-7336 Email: gps@wustl.edu Website: gps.wustl.edu GENETIC TESTING IN CANCER Ka/nka Vigh-Conrad, PhD Genomics

More information

PDX Tumor Biology Pla0orms for Drug Advancement Neal Goodwin, Ph.D. Vice President Corporate Research & Development

PDX Tumor Biology Pla0orms for Drug Advancement Neal Goodwin, Ph.D. Vice President Corporate Research & Development PDX Tumor Biology Pla0orms for Drug Advancement Neal Goodwin, Ph.D. Vice President Corporate Research & Development ngoodwin@championsoncology.com +1-530-392-2741 Champions Oncology: Global provider of

More information

Nature Medicine: doi: /nm.4439

Nature Medicine: doi: /nm.4439 Figure S1. Overview of the variant calling and verification process. This figure expands on Fig. 1c with details of verified variants identification in 547 additional validation samples. Somatic variants

More information

CGC myeloid malignancy working group updates. Xinjie Xu & Rashmi Kanagal-Shamanna

CGC myeloid malignancy working group updates. Xinjie Xu & Rashmi Kanagal-Shamanna CGC myeloid malignancy working group updates Xinjie Xu & Rashmi Kanagal-Shamanna 8-9-2016 Group members Gordana Raca Children's Hospital Los Angeles Xinjie Xu University of Utah ARUP Laboratories Rashmi

More information

Enhancing Assessment of Myeloid Disorders in the Era of Precision Medicine

Enhancing Assessment of Myeloid Disorders in the Era of Precision Medicine Enhancing Assessment of Myeloid Disorders in the Era of Precision Medicine Michelle Afkhami, M.D. Medical Director, Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center Objectives

More information

Myelodysplastic syndromes and the new WHO 2016 classification

Myelodysplastic syndromes and the new WHO 2016 classification Myelodysplastic syndromes and the new WHO 2016 classification 32nd General Annual Meeting of the Belgian Hematology Society 10-11 February 2017 Gregor Verhoef, Departement of Hematology, University Hospital

More information

West Midlands Regional Genetics Laboratory

West Midlands Regional Genetics Laboratory West Midlands Regional Genetics Laboratory Haemato-oncology service update letter October 2017 Dear colleagues, We are writing to outline the latest developments to our service, aiming to support the management

More information

Acute Myeloid Leukemia Progress at last

Acute Myeloid Leukemia Progress at last Acute Myeloid Leukemia Progress at last Bruno C. Medeiros, MD September 9, 217 Introduction Mechanisms of leukemogenesis Emerging therapies in AML Previously untreated AML Relapsed and refractory patients

More information

Juan Ma 1, Jennifer Dunlap 2, Lisong Shen 1, Guang Fan 2 1

Juan Ma 1, Jennifer Dunlap 2, Lisong Shen 1, Guang Fan 2 1 Juan Ma 1, Jennifer Dunlap 2, Lisong Shen 1, Guang Fan 2 1 Xin Hua Hospital, Shanghai, China 2 Oregon Health & Science University, Portland, OR, United States AML is a hematopoietic neoplasms characterized

More information

Acute Myeloid Leukemia with RUNX1 and Several Co-mutations

Acute Myeloid Leukemia with RUNX1 and Several Co-mutations Case SH2017-0281 Acute Myeloid Leukemia with RUNX1 and Several Co-mutations James Bauer, MD, PhD David Yang, MD Erik Ranheim, MD, PhD Catherine Leith, MB, Bchir Clinical History Chief Complaint: 72 year

More information

Targeted Agent and Profiling Utilization Registry (TAPUR ) Study. February 2018

Targeted Agent and Profiling Utilization Registry (TAPUR ) Study. February 2018 Targeted Agent and Profiling Utilization Registry (TAPUR ) Study February 2018 Precision Medicine Therapies designed to target the molecular alteration that aids cancer development 30 TARGET gene alterations

More information

New Directions in Aplastic Anemia

New Directions in Aplastic Anemia 11//15 New Directions in Aplastic Anemia ANDREW C. DI ETZ, MD, MSCR PEDIATRIC BLOOD AND MARROW TRANSPLANTATION CHILDREN S HOSPITAL LOS ANGELES, UNIVERSITY OF SOUTHERN CALIFORNIA Outline Ø Changes in Immunosuppressive

More information

Frequency(%) KRAS G12 KRAS G13 KRAS A146 KRAS Q61 KRAS K117N PIK3CA H1047 PIK3CA E545 PIK3CA E542K PIK3CA Q546. EGFR exon19 NFS-indel EGFR L858R

Frequency(%) KRAS G12 KRAS G13 KRAS A146 KRAS Q61 KRAS K117N PIK3CA H1047 PIK3CA E545 PIK3CA E542K PIK3CA Q546. EGFR exon19 NFS-indel EGFR L858R Frequency(%) 1 a b ALK FS-indel ALK R1Q HRAS Q61R HRAS G13R IDH R17K IDH R14Q MET exon14 SS-indel KIT D8Y KIT L76P KIT exon11 NFS-indel SMAD4 R361 IDH1 R13 CTNNB1 S37 CTNNB1 S4 AKT1 E17K ERBB D769H ERBB

More information

TEST MENU TEST CPT CODES TAT. Chromosome Analysis Bone Marrow x 2, 88264, x 3, Days

TEST MENU TEST CPT CODES TAT. Chromosome Analysis Bone Marrow x 2, 88264, x 3, Days TEST MENU CANCER/LEUKEMIA CHROMOSOME ANALYSIS Chromosome Analysis Bone Marrow 88237 x 2, 88264, 88280 x 3, 88291 4 Days Chromosome Analysis Bone Marrow Core 88237 x 2, 88264, 88280 x 3, 88291 4 Days Chromosome

More information

Myelodysplastic syndromes Impact of Biology. Lionel Adès Hopital Saint Louis Groupe Francophone des SMD. Épidémiologie

Myelodysplastic syndromes Impact of Biology. Lionel Adès Hopital Saint Louis Groupe Francophone des SMD. Épidémiologie Myelodysplastic syndromes Impact of Biology Lionel Adès Hopital Saint Louis Groupe Francophone des SMD Épidémiologie Incidence : 3 à 6 / 100 000 hab. / An Prédomine chez les sujets âgés Augmentation de

More information

Identification and clinical detection of genetic alterations of pre-neoplastic lesions Time for the PML ome? David Sidransky MD Johns Hopkins

Identification and clinical detection of genetic alterations of pre-neoplastic lesions Time for the PML ome? David Sidransky MD Johns Hopkins Identification and clinical detection of genetic alterations of pre-neoplastic lesions Time for the PML ome? David Sidransky MD Johns Hopkins February 3-5, 2016 Lansdowne Resort, Leesburg, VA Molecular

More information

Overview. Methods 9/11/2017. Next Generation Sequencing and Precision Medicine in Hematological Malignancies. Genotyping in hematology

Overview. Methods 9/11/2017. Next Generation Sequencing and Precision Medicine in Hematological Malignancies. Genotyping in hematology Overview Next Generation Sequencing and Precision Medicine in Hematological Malignancies Sharathkumar Bhagavathi, MD University of Iowa Carver College of Medicine NGS as a genotyping platform in hematopathology

More information

Nature Genetics: doi: /ng Supplementary Figure 1. HOX fusions enhance self-renewal capacity.

Nature Genetics: doi: /ng Supplementary Figure 1. HOX fusions enhance self-renewal capacity. Supplementary Figure 1 HOX fusions enhance self-renewal capacity. Mouse bone marrow was transduced with a retrovirus carrying one of three HOX fusion genes or the empty mcherry reporter construct as described

More information

Spectrum of somatically acquired mutations identified by combining WES and genome-wide DNA array analysis in the discovery cohort of 30 JMML cases.

Spectrum of somatically acquired mutations identified by combining WES and genome-wide DNA array analysis in the discovery cohort of 30 JMML cases. Supplementary Figure 1 Spectrum of somatically acquired mutations identified by combining WES and genome-wide DNA array analysis in the discovery cohort of 30 JMML cases. A total of 85 somatically acquired

More information

New drugs in Acute Leukemia. Cristina Papayannidis, MD, PhD University of Bologna

New drugs in Acute Leukemia. Cristina Papayannidis, MD, PhD University of Bologna New drugs in Acute Leukemia Cristina Papayannidis, MD, PhD University of Bologna Challenges to targeted therapy in AML Multiple subtypes based upon mutations/cytogenetic aberrations No known uniform genomic

More information

Molecular Minimal Residual Disease in Acute Myeloid Leukemia

Molecular Minimal Residual Disease in Acute Myeloid Leukemia Original Article Molecular Minimal Residual Disease in Acute Myeloid Leukemia M. Jongen Lavrencic, T. Grob, D. Hanekamp, F.G. Kavelaars, A. al Hinai, A. Zeilemaker, C.A.J. Erpelinck Verschueren, P.L. Gradowska,

More information

We are in an era that promises a rational. treatment of cancer patients. Levy et al. Genome Research 22:2201, 2012 Vanderbilt university

We are in an era that promises a rational. treatment of cancer patients. Levy et al. Genome Research 22:2201, 2012 Vanderbilt university Enhancing Assessment of Leukemia with Next Generation Sequencing Michelle Afkhami, M.D. Medical Director, Clinical i l Molecular l Laboratory City of Hope National Medical Center How the Expert Treat Hematologic

More information

CBL and EZH2 as new molecular markers in MPN

CBL and EZH2 as new molecular markers in MPN CBL and EZH2 as new molecular markers in MPN Andy Chase University of Southampton and Wessex Regional Genetics Laboratory Salisbury, UK Munich 2011 * Myeloproliferative neoplasms MDS/MPN Myelodysplastic

More information

Objectives and Financial Disclosure

Objectives and Financial Disclosure Enhancing Assessment of Leukemia and Lymphoma with Next Generation Sequencing Michelle Afkhami, M.D. Medical Director, Clinical Molecular Laboratory Assistant Professor, Department of Pathology City of

More information

DISCLOSURE Luca Malcovati, MD. No financial relationships to disclose

DISCLOSURE Luca Malcovati, MD. No financial relationships to disclose ICUS, CCUS and CHIP Luca Malcovati, MD Department of Molecular Medicine, University of Pavia Medical School, & Department of Hematology Oncology, IRCCS Policlinico S. Matteo Foundation, Pavia, Italy DISCLOSURE

More information

Mutational Impact on Diagnostic and Prognostic Evaluation of MDS

Mutational Impact on Diagnostic and Prognostic Evaluation of MDS Mutational Impact on Diagnostic and Prognostic Evaluation of MDS Elsa Bernard, PhD Papaemmanuil Lab, Computational Oncology, MSKCC MDS Foundation ASH 2018 Symposium Disclosure Research funds provided by

More information

Supporting Information

Supporting Information Supporting Information Rampal et al. 10.1073/pnas.1407792111 Fig. S1. Genetic events in leukemic transformation of chronic-phase MPNs. (A) Survival of post-mpn AML patients according to mutational status

More information

Molecular Minimal Residual Disease in Acute Myeloid Leukemia

Molecular Minimal Residual Disease in Acute Myeloid Leukemia Zurich Open Repository and Archive University of Zurich Main Library Strickhofstrasse 39 CH-8057 Zurich www.zora.uzh.ch Year: 2018 Molecular Minimal Residual Disease in Acute Myeloid Leukemia Jongen-Lavrencic,

More information

Objectives DISCLOSURES. Next-Generation Sequencing (NGS) Testing for Hematologic Malignancies

Objectives DISCLOSURES. Next-Generation Sequencing (NGS) Testing for Hematologic Malignancies Next-Generation Sequencing (NGS) Testing for Hematologic Malignancies David Viswanatha, M.D. Division of Hematopathology Mayo Clinic, Rochester, Minnesota 2017 MFMER slide-1 DISCLOSURES Relevant Financial

More information

abstract n engl j med 374;23 nejm.org June 9,

abstract n engl j med 374;23 nejm.org June 9, The new england journal of medicine established in 1812 June 9, 2016 vol. 374 no. 23 Genomic Classification and Prognosis in Acute Myeloid Leukemia Elli Papaemmanuil, Ph.D., Moritz Gerstung, Ph.D., Lars

More information

ADRL Advanced Diagnostics Research Laboratory

ADRL Advanced Diagnostics Research Laboratory ADRL Advanced Diagnostics Research Laboratory John DeCoteau, MD FRCP Department of Pathology, Division of Hematopathology University of Saskatchewan Saskatchewan Cancer Agency ADRL Project Objectives New

More information

Acute leukemia and myelodysplastic syndromes

Acute leukemia and myelodysplastic syndromes 11/01/2012 Post-ASH meeting 1 Acute leukemia and myelodysplastic syndromes Peter Vandenberghe Centrum Menselijke Erfelijkheid & Afdeling Hematologie, UZ Leuven 11/01/2012 Post-ASH meeting 2 1. Acute myeloid

More information

Precision Oncology: Experience at UW

Precision Oncology: Experience at UW Precision Oncology: Experience at UW Colin Pritchard MD, PhD University of Washington, Department of Lab Medicine WSMOS Meeting November 1, 2013 Conflict of Interest Disclosures I declare the following,

More information

Fluxion Biosciences and Swift Biosciences Somatic variant detection from liquid biopsy samples using targeted NGS

Fluxion Biosciences and Swift Biosciences Somatic variant detection from liquid biopsy samples using targeted NGS APPLICATION NOTE Fluxion Biosciences and Swift Biosciences OVERVIEW This application note describes a robust method for detecting somatic mutations from liquid biopsy samples by combining circulating tumor

More information

ESTABLISHED AND EMERGING THERAPIES FOR ACUTE MYELOID LEUKAEMIA. Dr Rob Sellar UCL Cancer Institute, London, UK

ESTABLISHED AND EMERGING THERAPIES FOR ACUTE MYELOID LEUKAEMIA. Dr Rob Sellar UCL Cancer Institute, London, UK ESTABLISHED AND EMERGING THERAPIES FOR ACUTE MYELOID LEUKAEMIA Dr Rob Sellar UCL Cancer Institute, London, UK OVERVIEW Main focus on patients fit for intensive treatment Biological and Clinical Heterogeneity

More information

Molecular Advances in Hematopathology

Molecular Advances in Hematopathology Molecular Advances in Hematopathology HOW MOLECULAR METHODS HAVE CHANGED MY PRACTICE Objectives Understand the importance of cytogenetic/molecular studies in hematolymphoid diseases Know some of the important

More information

SUPPLEMENTARY INFORMATION

SUPPLEMENTARY INFORMATION doi:10.1038/nature13898 Supplementary Information Table 1 Kras mutation status of carcinogen-induced mouse lung adenomas Tumour Treatment Strain Grade Genotype Kras status (WES)* Kras status (Sanger) 32T1

More information

Genetic complexity in MPN, MDS/MPN and MDS

Genetic complexity in MPN, MDS/MPN and MDS Genetic complexity in MPN, MDS/MPN and MDS Nick Cross Wessex Regional Genetics Laboratory, Salisbury Faculty of Medicine, University of Southampton Genetic complexity in chronic myeloid neoplasms Classes

More information

Objectives. Morphology and IHC. Flow and Cyto FISH. Testing for Heme Malignancies 3/20/2013

Objectives. Morphology and IHC. Flow and Cyto FISH. Testing for Heme Malignancies 3/20/2013 Molecular Markers in Hematologic Malignancy: Ways to locate the needle in the haystack. Objectives Review the types of testing for hematologic malignancies Understand rationale for molecular testing Marcie

More information

Initial Diagnostic Workup of Acute Leukemia

Initial Diagnostic Workup of Acute Leukemia Initial Diagnostic Workup of Acute Leukemia Guideline from the College of American Pathologists (CAP) and the American Society of Hematology (ASH) Publication: Archives of Pathology and Laboratory Medicine

More information

Published Ahead of Print on June 22, 2017, as doi: /haematol Copyright 2017 Ferrata Storti Foundation.

Published Ahead of Print on June 22, 2017, as doi: /haematol Copyright 2017 Ferrata Storti Foundation. Published Ahead of Print on June 22, 2017, as doi:10.3324/haematol.2017.166173. Copyright 2017 Ferrata Storti Foundation. Molecular analysis of myelodysplastic syndrome with isolated del(5q) reveals a

More information

BHS Annual Meeting

BHS Annual Meeting BHS Annual Meeting 2014 01.02.2014 Implementing next-generation deepsequencing assays in diagnostic algorithms in hematological malignancies Dr. Alexander Kohlmann Medical Need for Molecular Characterization

More information

Mayo alliance prognostic system for mastocytosis: clinical and hybrid clinical-molecular models

Mayo alliance prognostic system for mastocytosis: clinical and hybrid clinical-molecular models REGULAR ARTICLE Mayo alliance prognostic system for mastocytosis: clinical and hybrid clinical-molecular models Animesh Pardanani, 1 Sahrish Shah, 1 Francesco Mannelli, 2 Yoseph C. Elala, 1 Paola Guglielmelli,

More information

Nature Genetics: doi: /ng Supplementary Figure 1. SEER data for male and female cancer incidence from

Nature Genetics: doi: /ng Supplementary Figure 1. SEER data for male and female cancer incidence from Supplementary Figure 1 SEER data for male and female cancer incidence from 1975 2013. (a,b) Incidence rates of oral cavity and pharynx cancer (a) and leukemia (b) are plotted, grouped by males (blue),

More information

Abnormal blood test Y E A R S. Diagnosis of MDS

Abnormal blood test Y E A R S. Diagnosis of MDS Abnormal blood test 3 Y E A R S Diagnosis of MDS Demographics of Germany [90 2050] and Europe Italy Germany Spain Austria Greece eu5 Countrybyrankorder in203 Finland Portugal Belgium France UK Netherlands

More information

Challenges and Opportunities for Digital PCR in the Cancer CLIA Laboratory The Moffitt Cancer Center Experience

Challenges and Opportunities for Digital PCR in the Cancer CLIA Laboratory The Moffitt Cancer Center Experience Challenges and Opportunities for Digital PCR in the Cancer CLIA Laboratory The Moffitt Cancer Center Experience Anthony M Magliocco MD FRCPC FCAP Chair of Anatomic Pathology & Executive Director Esoteric

More information

Jocelyn Chapman, MD Division of Gynecologic Oncology. Julie S. Mak, MS, MSc Genetic Counselor Hereditary Cancer Clinic

Jocelyn Chapman, MD Division of Gynecologic Oncology. Julie S. Mak, MS, MSc Genetic Counselor Hereditary Cancer Clinic Jocelyn Chapman, MD Division of Gynecologic Oncology Julie S. Mak, MS, MSc Genetic Counselor Hereditary Cancer Clinic Genetics underlies all cancers Somatic or tumor genetics Germline or inherited genetics

More information

Myelodysplastic syndrome is a highly heterogeneous hematopoietic

Myelodysplastic syndrome is a highly heterogeneous hematopoietic SHORT COMMUNICATION Clinical Characteristics and Prognosis of 48 Patients with Mutations in Myelodysplastic Syndrome Yulu Tian #, Ruijuan Zhang #, Linhua Yang* Yang L. Clinical Characteristics and Prognosis

More information

Genomic Medicine: What every pathologist needs to know

Genomic Medicine: What every pathologist needs to know Genomic Medicine: What every pathologist needs to know Stephen P. Ethier, Ph.D. Professor, Department of Pathology and Laboratory Medicine, MUSC Director, MUSC Center for Genomic Medicine Genomics and

More information

APPLICATIONS OF NEXT GENERATION SEQUENCING IN SOLID TUMORS - PATHOLOGIST PROSPECTIVE

APPLICATIONS OF NEXT GENERATION SEQUENCING IN SOLID TUMORS - PATHOLOGIST PROSPECTIVE AMP COMPANION MEETING SYMPOSIUM AT USCAP 2015 NEXT-GENERATION OF PATHOLOGY: ROLE OF PATHOLOGIST IN NGS-BASED PERSONALIZED MEDICINE APPLICATIONS OF NEXT GENERATION SEQUENCING IN SOLID TUMORS - PATHOLOGIST

More information

Whole Genome and Transcriptome Analysis of Anaplastic Meningioma. Patrick Tarpey Cancer Genome Project Wellcome Trust Sanger Institute

Whole Genome and Transcriptome Analysis of Anaplastic Meningioma. Patrick Tarpey Cancer Genome Project Wellcome Trust Sanger Institute Whole Genome and Transcriptome Analysis of Anaplastic Meningioma Patrick Tarpey Cancer Genome Project Wellcome Trust Sanger Institute Outline Anaplastic meningioma compared to other cancers Whole genomes

More information

Comprehensive Analyses of Circulating Cell- Free Tumor DNA

Comprehensive Analyses of Circulating Cell- Free Tumor DNA Comprehensive Analyses of Circulating Cell- Free Tumor DNA Boston, MA June 28th, 2016 Derek Murphy, Ph.D. Scientist, Research and Development Personal Genome Diagnostics Acquisition of Somatic Alterations

More information

Targeted next-generation sequencing in blast phase myeloproliferative neoplasms

Targeted next-generation sequencing in blast phase myeloproliferative neoplasms REGULAR ARTICLE Targeted next-generation sequencing in blast phase myeloproliferative neoplasms Terra L. Lasho, Mythri Mudireddy, Christy M. Finke, Curtis A. Hanson, Rhett P. Ketterling, Natasha Szuber,

More information

Jennifer Hauenstein Oncology Cytogenetics Emory University Hospital Atlanta, GA

Jennifer Hauenstein Oncology Cytogenetics Emory University Hospital Atlanta, GA Comparison of Genomic Coverage using Affymetrix OncoScan Array and Illumina TruSight Tumor 170 NGS Panel for Detection of Copy Number Abnormalities in Clinical GBM Specimens Jennifer Hauenstein Oncology

More information

Nature Genetics: doi: /ng Supplementary Figure 1. Somatic coding mutations identified by WES/WGS for 83 ATL cases.

Nature Genetics: doi: /ng Supplementary Figure 1. Somatic coding mutations identified by WES/WGS for 83 ATL cases. Supplementary Figure 1 Somatic coding mutations identified by WES/WGS for 83 ATL cases. (a) The percentage of targeted bases covered by at least 2, 10, 20 and 30 sequencing reads (top) and average read

More information

ACTIVITY 2: EXAMINING CANCER PATIENT DATA

ACTIVITY 2: EXAMINING CANCER PATIENT DATA OVERVIEW Refer to the Overview of Cancer Discovery Activities for Key Concepts and Learning Objectives, Curriculum Connections, and Prior Knowledge, as well as background information, references, and additional

More information

Case Report A Case of Idiopathic Hypereosinophilic Syndrome Causing Mitral Valve Papillary Muscle Rupture

Case Report A Case of Idiopathic Hypereosinophilic Syndrome Causing Mitral Valve Papillary Muscle Rupture Case Reports in Pediatrics Volume 2015, Article ID 538762, 5 pages http://dx.doi.org/10.1155/2015/538762 Case Report A Case of Idiopathic Hypereosinophilic Syndrome Causing Mitral Valve Papillary Muscle

More information

CLINICAL UTILITY OF INTEGRATED GENOMIC PROFILING IN PEDIATRIC LEUKEMIA

CLINICAL UTILITY OF INTEGRATED GENOMIC PROFILING IN PEDIATRIC LEUKEMIA CLINICAL UTILITY OF INTEGRATED GENOMIC PROFILING IN PEDIATRIC LEUKEMIA FUMIN LIN, Ph.D. LINF1@EMAIL.CHOP.EDU CANCER GENOMIC DIAGNOSTIC LABORATORY DIVISION OF GENOMIC DIAGNOSTICS 1 PEDIATRIC LEUKEMIA Common

More information

SureSelect Cancer All-In-One Custom and Catalog NGS Assays

SureSelect Cancer All-In-One Custom and Catalog NGS Assays SureSelect Cancer All-In-One Custom and Catalog NGS Assays Detect all cancer-relevant variants in a single SureSelect assay SNV Indel TL SNV Indel TL Single DNA input Single AIO assay Single data analysis

More information

Myelodysplastic Syndromes. Post-ASH meeting 2014 Marie-Christiane Vekemans

Myelodysplastic Syndromes. Post-ASH meeting 2014 Marie-Christiane Vekemans Myelodysplastic Syndromes Post-ASH meeting 2014 Marie-Christiane Vekemans Agenda New biological developments Risk assessment and prognostic factors New therapeutic options Agenda New biological developments

More information

Dr David Guttery Senior PDRA Dept. of Cancer Studies and CRUK Leicester Centre University of Leicester

Dr David Guttery Senior PDRA Dept. of Cancer Studies and CRUK Leicester Centre University of Leicester Dr David Guttery Senior PDRA Dept. of Cancer Studies and CRUK Leicester Centre University of Leicester dsg6@le.ac.uk CFDNA/CTDNA Circulating-free AS A LIQUID DNA BIOPSY (cfdna) Tumour Biopsy Liquid Biopsy

More information

Supplementary Figure 1. Cytoscape bioinformatics toolset was used to create the network of protein-protein interactions between the product of each

Supplementary Figure 1. Cytoscape bioinformatics toolset was used to create the network of protein-protein interactions between the product of each Supplementary Figure 1. Cytoscape bioinformatics toolset was used to create the network of protein-protein interactions between the product of each mutated gene and the panel of 125 cancer-driving genes

More information

Changing the Culture of Cancer Care II. Eric Holland Fred Hutchinson Cancer Research Center University of Washington Seattle

Changing the Culture of Cancer Care II. Eric Holland Fred Hutchinson Cancer Research Center University of Washington Seattle Changing the Culture of Cancer Care II Eric Holland Fred Hutchinson Cancer Research Center University of Washington Seattle Transforming Cancer Therapy Eric Holland Fred Hutchinson Cancer Research Center

More information

Corporate Medical Policy. Policy Effective February 23, 2018

Corporate Medical Policy. Policy Effective February 23, 2018 Corporate Medical Policy Genetic Testing for FLT3, NPM1 and CEBPA Mutations in Acute File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_flt3_npm1_and_cebpa_mutations_in_acute_myeloid_leukemia

More information

Anemia (2): 4 MS/18/02/2019

Anemia (2): 4 MS/18/02/2019 Anemia (2): 4 MS/18/02/2019 Case 2 65 yr old male had gradual onset of odd behavior with psychotic symptoms, irritability and parasthesia in hands and feet He was noticed to have imbalanced gait. Examination

More information