Comparison of FISH, CpG-stimulation, chromosomal microarray and mate pair sequencing in 20 patients with CLL or lymphoma
|
|
- Darleen Mason
- 6 years ago
- Views:
Transcription
1 Comparison of FISH, CpG-stimulation, chromosomal microarray and mate pair sequencing in 20 patients with CLL or lymphoma Stephanie Smoley Cancer Genomics Consortium August 9 th, MFMER slide-1
2 Chronic Lymphocytic Leukemia (CLL)/ Small Lymphocytic Lymphoma (SLL) Disorder of the B-lymphocytes Most common form of adult leukemia/lymphoma in Western countries average age at diagnosis 71 years male:female ratio 2:1 Highly variable clinical course survival ranging 2-20 years 2016 MFMER slide-2
3 CLL staging Rai Stage Risk Characteristics Survival (years) 0 Low lymphocytosis >13 I Intermediate lymphocytosis plus lymphadenopathy 8 II Intermediate lymphocytosis plus hepatomegaly or splenomegaly w/ or w/o lymphadenopathy 5 III High lymphocytosis plus anemia w/ or w/o hepatomegaly, splenomegaly or lymphadenopathy 2 IV High lymphocytosis plus thrombocytopenia 1 Rai et al., Blood MFMER slide-3
4 Dohner Classification 17p- Nl/+12 11q- 13q- FISH abnormality 17p q Normal q- 133 Median Survival (months) Dohner et al., NEJM 2000 Shanafelt et al., J Clin Oncol MFMER slide-4
5 Why is prognostication so important? No cure has been found For asymptomatic patients watch and wait Many patients with CLL aren t healthy enough for treatment Targeted therapy 17p deletions Evolution 2016 MFMER slide-5
6 Cytogenetic testing for CLL FISH Limited targets ~30% are normal CpG stimulated karyotype Whole genome Low resolution Chromosomal microarray Whole genome High resolution Cannot detect rearrangements Mate Pair Sequencing Whole genome High resolution CNV and rearrangements 2016 MFMER slide-6
7 20 Test Patients RFR CLL or lymphoma Not all patients were confirmed to have CLL Chosen based on suitability for mate pair testing Highly enriched for IGH rearrangements 2016 MFMER slide-7
8 FISH vs. MPseq (n=20) 1* matched 1 case w/ FISH advantage: MPseq missed a low level 13q-, (*but identified the BCL2 partner as IGL) 4 cases w/ MPseq advantage: 2 reclassified 13q-x1 to 13q-x2 1 identified the IGH partner as BCL11A 1 identified a CCND1/IGH not visible by FISH testing FISH exceeds MPseq FISH & MPseq match MPseq exceeds FISH 2016 MFMER slide-8
9 CpG vs. MPseq (n=19) 1* match 1 case w/ CpG advantage MPseq missed low level add(18), (*but identified the IGH partner as BCL11A) 2 cases w/ MPseq advantage detected 13q- and identified the IGH partner as BCL11A add(14) characterized as BCL11A/IGH CpG exceeds MPseq CpG & MPseq match MPseq exceeds CpG 2016 MFMER slide-9
10 Example #1 CpG advantage Referrred for testing CLL FISH 11q- (77%) IGH separation (95.5%) 2016 MFMER slide-10
11 Example # ,XY,t(2;14)(p15;q32),del(11)(q22q23),add(18)(q21)[cp10] 2016 MFMER slide-11
12 Example #1 ATM IGH CpG ,XY,t(2;14)(p15;q32),del(11)(q22q23),add(18)(q21)[cp10] 2016 MFMER slide-12
13 Example #1 SERTAD2 SERTAD2 IGH locus IGH locus 2016 MFMER slide-13
14 Example # MFMER slide-14
15 Example #1 BCL11A/IGH 2016 MFMER slide-15
16 Example #2 MPseq advantage Referred for testing CLL CpG - 46,XY,t(5;6)(q13;q23)[10]/46,XY[10] FISH 13q-x1 (56%) 2016 MFMER slide-16
17 Example #2 CpG - 46,XY,t(5;6)(q13;q23)[10]/46,XY[10] FISH 13q-x1 (56%) 2016 MFMER slide-17
18 Example #2 CN=1.4 CN=0.8 CpG - 46,XY,t(5;6)(q13;q23)[10]/46,XY[10] FISH 13q-x1 (56%) 2016 MFMER slide-18
19 Example #2 Abbott Molecular D13S319 probe 2016 MFMER slide-19
20 Example #3 MPseq advantage Referred for testing CLL/SLL Flow cytometry indicative of follicular lymphoma or marginal zone lymphoma FISH for CCND1/IGH, CCND2, MYC and 7qwere all negative FISH showed ~90% 17p MFMER slide-20
21 Example #3 46,XX,+3,add(3)(p11)x2,t(5;20)(p13;q11.2), MFMER slide-21
22 Example #3 CpG - 46,XX,+3,add(3)(p11)x2,t(5;20)(p13;q11.2),-13 MPseq 46,XX,+3,add(3)(q10)x2,t(5;13)(q11.2;q22.1),t(11;14)(q13.3;q32.33) 2016 MFMER slide-22
23 Example #3 CpG - 46,XX,+3,add(3)(p11)x2,t(5;20)(p13;q11.2),-13 MPseq 46,XX,+3,add(3)(q10)x2,t(5;13)(q11.2;q22.1),t(11;14)(q13.3;q32.33) 2016 MFMER slide-23
24 Example #3 CpG - 46,XX,+3,add(3)(p11)x2,t(5;20)(p13;q11.2),-13 MPseq 46,XX,+3,add(3)(q10)x2,t(5;13)(q11.2;q22.1),t(11;14)(q13.3;q32.33) 2016 MFMER slide-24
25 Example #3 CCND1 CCND1 IGH locus IGH locus 2016 MFMER slide-25
26 Example #3 t(11;14)(q13.3;q32.33) Atlas of Genetics & Cytogen 2016 MFMER slide-26
27 chr11 chr14 t(11;14)(q13.3;q32.33) 2016 MFMER slide-27
28 chr11 chr14 Abbott CCND1 D-FISH probe Abbott IGH-XT D-FISH probe t(11;14)(q13.3;q32.33) 2016 MFMER slide-28
29 Abbott CCND1 D-FISH probe Insertional translocation Abbott IGH-XT D-FISH probe t(11;14)(q13.3;q32.33) 2016 MFMER slide-29
30 Conclusions: No single method provides all information FISH is more sensitive for follow-up and MRD MPseq is a useful diagnostic tool detecting more than any other method: Variant translocations (BCL11A, IGK, IGL) More accurately classifies heterozygous vs homozygous 13q deletions Novel changes 2016 MFMER slide-30
31 Acknowledgements: Genomics Lab: Umut Aypar, PhD Linda Baughn, PhD Patricia Greipp, DO Katherine Geiersbach, MD Nicole Hoppman, PhD Robert Jenkins, MD, PhD Hutton Kearney, PhD Rhett Ketterling, MD Beth Pitel, MS Jeannette Rustin William Sukov, MD Erik Thorland, PhD Daniel Van Dyke, PhD Bioinformatics: Eric Klee, PhD Saranya Sankaranarayan, MS Satwica Yerneni Biomarker Discovery: Athanasios (Saki) Gaitatzes, MS Sarah Johnson, MS James Smadbeck, PhD George Vasmatzis, PhD Clinical Genome Sequencing Lab: Joseph Blommel, MS Lisa Peterson 2016 MFMER slide-31
32 Questions? I think you should be more explicit here in step two 2016 MFMER slide-32
Use of MYC, BCL2 and BCL6 FISH for investigations of high grade B cell lymphoma
Use of MYC, BCL2 and BCL6 FISH for investigations of high grade B cell lymphoma Dr Anthony Bench Haematopathology and Oncology Diagnostic Service Cambrıdge Unıversıty Hospitals NHS Foundatıon Trust Cambridge
More informationCLL Complete SM Report
Reported: 02/01/2012 Σ CGI ID No:5 Client:r Client Address: CLINICAL DATA: Lymphoma No CBC results provided. CLL Complete SM Report FINAL DIAGNOSIS: CD19+ B cell lymphoma, ZAP-70 + (44%), with borderline
More informationTest Utilization: Chronic Lymphocytic Leukemia
Test Utilization: Chronic Lymphocytic Leukemia Initial Evaluation Diagnostic Criteria Selection of Tests for Prognosis Response to Therapy Challenges Assessment for persistent disease Paul J. Kurtin, M.D.
More informationPhenoPath. Diagnoses you can count on B CELL NON-HODGKIN LYMPHOMA
PhenoPath Diagnoses you can count on B CELL NON-HODGKIN LYMPHOMA C urrent diagnosis of B cell non-hodgkin lymphoma (B-NHL) is based on the 2008 WHO Classification of Tumours of Haematopoietic and Lymphoid
More informationAddressing the challenges of genomic characterization of hematologic malignancies using microarrays
Addressing the challenges of genomic characterization of hematologic malignancies using microarrays Sarah South, PhD, FACMG Medical Director, ARUP Laboratories Department of Pediatrics and Pathology University
More informationMYC Translocations In Multiple Myeloma Involve Recruitment Of Enhancer Elements Resulting In Over- Expression and Decreased Overall Survival
in partnership with MYC Translocations In Multiple Myeloma Involve Recruitment Of Enhancer Elements Resulting In Over- Expression and Decreased Overall Survival Brian A Walker Centre for Myeloma Research,
More informationChronic Lymphocytic Leukemia FISH Panel. Impact on Diagnosis
Hematopathology / CLL, FISH, AND 14Q32 TRANSLOCATIONS Chronic Lymphocytic Leukemia FISH Panel Impact on Diagnosis Beverly P. Nelson, MD, 1 Rohit Gupta, MD, 1 Gordon W. Dewald, PhD, 2 Sarah F. Paternoster,
More informationNon-Hodgkin lymphomas (NHLs) Hodgkin lymphoma )HL)
Non-Hodgkin lymphomas (NHLs) Hodgkin lymphoma )HL) Lymphoid Neoplasms: 1- non-hodgkin lymphomas (NHLs) 2- Hodgkin lymphoma 3- plasma cell neoplasms Non-Hodgkin lymphomas (NHLs) Acute Lymphoblastic Leukemia/Lymphoma
More informationFollicular Lymphoma: the WHO
Follicular Lymphoma: the WHO and the WHERE? Yuri Fedoriw, MD Associate Professor of Pathology and Laboratory Medicine Director of Hematopathology University of North Carolina Chapel Hill, NC Disclosure
More informationChronic Lymphocytic Leukemia Mantle Cell Lymphoma Elias Campo
Chronic Lymphocytic Leukemia Mantle Cell Lymphoma Elias Campo Hospital Clinic, University of Barcelona Small B-cell lymphomas NAIVE -B LYMPHOCYTE MEMORY CELL CLL MCL FL MZL Small cell size Low proliferation
More informationUTILIZATION OF A SNP MICROARRAY FOR CHRONIC LYMPHOCYTIC LEUKEMIA: EFFICACY, INFORMATIVE FINDINGS AND PROGNOSTIC CAPABILITIES
UTILIZATION OF A SNP MICROARRAY FOR CHRONIC LYMPHOCYTIC LEUKEMIA: EFFICACY, INFORMATIVE FINDINGS AND PROGNOSTIC CAPABILITIES S Schwartz, Z Hosseini, S Schepis, P Papenhausen Laboratory Corporation of America
More informationCLL & SLL: Current Management & Treatment. Dr. Isabelle Bence-Bruckler
CLL & SLL: Current Management & Treatment Dr. Isabelle Bence-Bruckler Chronic Lymphocytic Leukemia Prolonged clinical course Chronic A particular type of white blood cell B lymphocyte Lymphocytic Cancer
More informationInitial Diagnosis and Treatment 81 Male
Case SH2017-0359 Shiraz Fidai 1, Sandeep Gurbuxani 1, Girish Venkataraman 1, Gordana Raca 2, Madina Sukhanova 3, Michelle M Le Beau 3, Y. Lynn Wang 4, Mir Alikhan 4, Megan M.McNerney 4, Yuri Kobzev 4,
More informationObjectives. 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 informationMolecular Markers. Marcie Riches, MD, MS Associate Professor University of North Carolina Scientific Director, Infection and Immune Reconstitution WC
Molecular Markers Marcie Riches, MD, MS Associate Professor University of North Carolina Scientific Director, Infection and Immune Reconstitution WC Overview Testing methods Rationale for molecular testing
More informationGray Zones and Double Hits Distinguishing True Burkitt Lymphoma from Other High-Grade B-NHLs Burkitt Lymphoma Burkitt-Like Lymphoma DLBCL Patrick Tres
Gray Zones and Double Hits Distinguishing True Burkitt Lymphoma from Other High-Grade B-NHLs Burkitt Lymphoma Burkitt-Like Lymphoma DLBCL Patrick Treseler, MD, PhD University of California San Francisco
More information7 Omar Abu Reesh. Dr. Ahmad Mansour Dr. Ahmad Mansour
7 Omar Abu Reesh Dr. Ahmad Mansour Dr. Ahmad Mansour -Leukemia: neoplastic leukocytes circulating in the peripheral bloodstream. -Lymphoma: a neoplastic process in the lymph nodes, spleen or other lymphatic
More informationYour single-source laboratory solution. FISH Probe Library
Your single-source laboratory solution. FISH Probe Library Alphabetical List by Probe with Clinical Indication Probe Clinical Indication 1p36 (TP73)/19q13 (GLTSCR) 1q21 (CKS1B) 5q (CSF1R/RPS14) 7q (MDFIC)
More informationShort Telomeres Predict Poor Prognosis in Chronic Lymphocytic Leukemia
Short Telomeres Predict Poor Prognosis in Chronic Lymphocytic Leukemia L. Yang Internal Medicine Resident University of Manitoba Supervisor: Dr. J. Johnston Prognostic factors Clinical course is unpredictable
More informationCLL: disease specific biology and current treatment. Dr. Nathalie Johnson
CLL: disease specific biology and current treatment Dr. Nathalie Johnson Disclosures Consultant and Advisory boards Roche, Abbvie, Gilead, Jansson, Lundbeck,Merck Research funding Roche, Abbvie, Lundbeck
More information(Fully automated FISH Analysis for B-cell Chronic Lymphocytic Leukemia: a faster alternative to manual double scoring)
Routine integration of fully automated image analysis of Kreatech CLL FISH Probes, using the CytoVision GSL Scanning System (Fully automated FISH Analysis for B-cell Chronic Lymphocytic Leukemia: a faster
More informationClassification of Hematologic Malignancies. Patricia Aoun MD MPH
Classification of Hematologic Malignancies Patricia Aoun MD MPH Objectives Know the basic principles of the current classification system for hematopoietic and lymphoid malignancies Understand the differences
More informationLymphoma/CLL 101: Know your Subtype. Dr. David Macdonald Hematologist, The Ottawa Hospital
Lymphoma/CLL 101: Know your Subtype Dr. David Macdonald Hematologist, The Ottawa Hospital Function of the Lymph System Lymph Node Lymphocytes B-cells develop in the bone marrow and influence the immune
More information2013 AAIM Pathology Workshop
2013 AAIM Pathology Workshop John Schmieg, M.D., Ph.D. None Disclosures 1 Pathology Workshop Objectives Define the general philosophy of reviewing pathology reports Review the various components of Bone
More informationThe patient had a mild splenomegaly but no obvious lymph node enlargement. The consensus phenotype obtained from part one of the exercise was:
Case History An 86 year old male was admitted to hospital with chest infection. Haematological examination subsequently revealed the following: Hb- 11.0 g/dl; WBC- 67.1 x 10^9/l; PLT- 99 x10^9/l; RBC-
More informationCLL & SLL: Current Management & Treatment. Dr. Peter Anglin
CLL & SLL: Current Management & Treatment Dr. Peter Anglin Chronic Lymphocytic Leukemia Prolonged clinical course Chronic A particular type of blood cell B lymphocyte Lymphocytic Cancer of white blood
More informationTemplate for Reporting Results of Biomarker Testing of Specimens From Patients With Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Template for Reporting Results of Biomarker Testing of Specimens From Patients With Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma Version: CLLBiomarkers 1.0.0.2 Protocol Posting Date: June 2017
More informationAbstract. Hematopathology / Improved Cytogenetics in Lymphoma. Key Words: Cytogenetics; B-cell lymphoma; CpG-oligonucleotide DSP30
Hematopathology / Improved Cytogenetics in Lymphoma Improved Detection Rate of Cytogenetic Abnormalities in Chronic Lymphocytic Leukemia and Other Mature B-Cell Neoplasms With Use of CpG-Oligonucleotide
More informationVolume 7, Issue 1 January 2012
The Hong Kong College of Pathologists, Incorporated in Hong Kong with Limited Liability Volume 7, Issue 1 January 2012 Editorial note: Chronic lymphocytic leukaemia (CLL) is the commonest chronic lymphoproliferative
More informationPathology of the indolent B-cell lymphomas Elias Campo
Pathology of the indolent B-cell lymphomas Elias Campo Hospital Clinic, University of Barcelona Small B-cell lymphomas Antigen selection NAIVE -B LYMPHOCYTE MEMORY B-CELL MCL FL LPL MZL CLL Small cell
More informationMolecular 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 informationPatterns of Lymphoid Neoplasia in Peripheral Blood. Leon F. Baltrucki, M.D. Leon F. Baltrucki, M.D. Disclosure
Patterns of Lymphoid Neoplasia in Peripheral Blood Leon F. Baltrucki, M.D. Leon F. Baltrucki, M.D. Disclosure Dr Baltrucki has received an honorarium for his participation as a faculty presenter in this
More informationThe role of cytogenomics in the diagnostic work-up of Chronic Lymphocytic Leukaemia
The role of cytogenomics in the diagnostic work-up of Chronic Lymphocytic Leukaemia Adrian Zordan, Meaghan Wall, Ruth MacKinnon, Pina D Achille & Lynda Campbell Victorian Cancer Cytogenetics Service (VCCS)
More informationCanadian College of Medical Geneticists (CCMG) Cytogenetics Examination. May 4, 2010
Canadian College of Medical Geneticists (CCMG) Cytogenetics Examination May 4, 2010 Examination Length = 3 hours Total Marks = 100 (7 questions) Total Pages = 8 (including cover sheet and 2 pages of prints)
More informationHematopathology Service Memorial Sloan Kettering Cancer Center, New York
SH2017-0334 t(14;18) Negative Follicular Lymphoma with 1p36 abnormality associated with In Situ Follicular Neoplasia with t(14;18) translocation Pallavi Khattar MD, Jennifer Maerki MD, Alexander Chan MD,
More informationDefined lymphoma entities in the current WHO classification
Defined lymphoma entities in the current WHO classification Luca Mazzucchelli Istituto cantonale di patologia, Locarno Bellinzona, January 29-31, 2016 Evolution of lymphoma classification Rappaport Lukes
More informationHIGH GRADE B-CELL LYMPHOMA DAVID NOLTE, MD (PGY-2) HUSSAM AL-KATEB, PHD, FACMG DEBORAH FUCHS, MD
HIGH GRADE B-CELL LYMPHOMA DAVID NOLTE, MD (PGY-2) HUSSAM AL-KATEB, PHD, FACMG DEBORAH FUCHS, MD OUTLINE High grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements Patient presentation 2008/2016
More informationCCND1-IGH Fusion-Amplification and MYC Copy Number Gain in a Case of Pleomorphic Variant Mantle Cell Lymphoma
AJCP /CASE REPORT CCND1-IGH Fusion-Amplification and MYC Copy Number Gain in a Case of Pleomorphic Variant Mantle Cell Lymphoma Yuan Miao, MD, 1,2 Pei Lin, MD, 1 Wei Wang, MD, 1 L. Jeffrey Medeiros, MD,
More informationFrom Morphology to Molecular Pathology: A Practical Approach for Cytopathologists Part 1-Cytomorphology. Songlin Zhang, MD, PhD LSUHSC-Shreveport
From Morphology to Molecular Pathology: A Practical Approach for Cytopathologists Part 1-Cytomorphology Songlin Zhang, MD, PhD LSUHSC-Shreveport I have no Conflict of Interest. FNA on Lymphoproliferative
More informationAggressive B-cell Lymphomas Updated WHO classification Elias Campo
Aggressive B-cell Lymphomas Updated WHO classification Elias Campo Hospital Clinic, University of Barcelona Diffuse Large B-cell Lymphoma A Heterogeneous Category Subtypes with differing: Histology and
More informationCLL Biology and Initial Management. Gordon D. Ginder, MD Director, Massey Cancer Center Lipman Chair in Oncology
CLL Biology and Initial Management Gordon D. Ginder, MD Director, Massey Cancer Center Lipman Chair in Oncology CLL- Epidemiology Most common adult leukemia 25-30% in western world Incidence in US 4.5
More informationCLL Ireland Information Day Presentation
CLL Ireland Information Day Presentation 5 May 2018 Professor Patrick Thornton Consultant Haematologist, Senior Lecturer RCSI, and Clinical Director Hermitage Medical Clinic Laboratory Chronic Lymphocytic
More informationCitation International Journal of Hematology, 2013, v. 98 n. 4, p The original publication is available at
Title Diagnostic challenges in a case of B cell lymphoma unclassifiable with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma Author(s) So, JCC; Yung, KH; Chu, ML; Wan,
More informationTranslocations and clonality detection in lymphoproliferative disorders by capturebased Next-generation sequencing
Translocations and clonality detection in lymphoproliferative disorders by capturebased Next-generation sequencing Dörte Wren MSc MPhil on behalf of the EuroClonality-NGS consortium Molecular Diagnostics
More informationAssociation for Molecular Pathology Promoting Clinical Practice, Basic Research, and Education in Molecular Pathology
Association for Molecular Pathology Promoting Clinical Practice, Basic Research, and Education in Molecular Pathology 9650 Rockville Pike, Bethesda, Maryland 20814 Tel: 301-634-7939 Fax: 301-634-7990 Email:
More informationRisk Stratification in Childhood Leukemia
Risk Stratification in Childhood Leukemia Why is risk stratification important? Toxicities Deepa Bhojwani, MD May 11, 2018 To determine intensity of therapy - When to intensify therapy - When to de-intensify
More informationRecent advances in the genetics & biology of lymphoma
Recent advances in the genetics & biology of lymphoma Chris Bacon Northern Institute for Cancer Research Newcastle University & Newcastle Upon Tyne Hospitals NHS Foundation Trust Lymphoma Rate per 100,000
More informationOncology Cytogenetics Diagnostic Service - User Guide 2014
Oncology Cytogenetics Diagnostic Service - User Guide 2014 Contact details Address: Cytogenetics Department 5 th Floor Tower Wing Guy s Hospital Great Maze Pond London SE1 9RT General enquiries 0207 188
More informationWe Can Cure Chronic Lymphocytic Leukemia with Current / Soon to be Approved Agents: CON ARGUMENT
We Can Cure Chronic Lymphocytic Leukemia with Current / Soon to be Approved Agents: CON ARGUMENT Danielle M. Brander, MD Duke University Division of Hematologic Malignancies & Cell Therapy CLL & Indolent
More informationWBCs Disorders 1. Dr. Nabila Hamdi MD, PhD
WBCs Disorders 1 Dr. Nabila Hamdi MD, PhD ILOs Compare and contrast ALL, AML, CLL, CML in terms of age distribution, cytogenetics, morphology, immunophenotyping, laboratory diagnosis clinical features
More informationHEMATOPATHOLOGY SERVICES
HEMATOPATHOLOGY SERVICES Know what your patient s future holds, NOW. Driven by patient care, GoPath Laboratories has set a new standard for hematologic cancer testing. thick, 2 slides per probe minimum
More informationGenomic complexity and arrays in CLL. Gian Matteo Rigolin, MD, PhD St. Anna University Hospital Ferrara, Italy
Genomic complexity and arrays in CLL Gian Matteo Rigolin, MD, PhD St. Anna University Hospital Ferrara, Italy Clinical relevance of genomic complexity (GC) in CLL GC has been identified as a critical negative
More informationREAL LIFE AMBULATORIALE E STUDI CLINICI RANDOMIZZATI NELLA PROGRAMMAZIONE TERAPEUTICA DELLA LEUCEMIA LINFATICA CRONICA.
REAL LIFE AMBULATORIALE E STUDI CLINICI RANDOMIZZATI NELLA PROGRAMMAZIONE TERAPEUTICA DELLA LEUCEMIA LINFATICA CRONICA Roberta Murru Struttura Complessa Ematologia e Centro Trapianti Presidio Ospedaliero
More informationMolecular Diagnosis. Nucleic acid based testing in Oncology
Molecular Diagnosis Nucleic acid based testing in Oncology Objectives Describe uses of NAT in Oncology Diagnosis, Prediction, monitoring. Genetics Screening, presymptomatic testing, diagnostic testing,
More informationTemplate for Reporting Results of Biomarker Testing of Specimens From Patients With Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Template for Reporting Results of Biomarker Testing of Specimens From Patients With Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma Template web posting date: December 2014 Authors Eric Duncavage,
More informationInvestigation and Management of Chronic Lymphocytic Leukemia. James Johnston
Investigation and Management of Chronic Lymphocytic Leukemia James Johnston Site Specific Clinics CLL Clinic (787-4454) Erin Elphee BN James Johnston Rajat Kumar Matt Seftel (transplant) Myeloma Clinic
More informationMED B Form CLL. Johannes Schetelig. London 09/April/
www.ebmt.org MED B Form CLL Johannes Schetelig London 09/April/2013 Content Update on CLL (15 ) Experiment with mini MED B CLL Assessment of pre-treatment in CLL Cytogenetics in CLL What is the IGVH-Gene
More informationNucleic Acid Testing - Oncology. Molecular Diagnosis. Gain/Loss of Nucleic Acid. Objectives. MYCN and Neuroblastoma. Molecular Diagnosis
Nucleic Acid Testing - Oncology Molecular Diagnosis Nucleic acid based testing in Oncology Gross alterations in DNA content of tumors (ploidy) Gain/Loss of nucleic acids Markers of Clonality Oncogene/Tumor
More informationMultiple Copy Number Variations in a Patient with Developmental Delay ASCLS- March 31, 2016
Multiple Copy Number Variations in a Patient with Developmental Delay ASCLS- March 31, 2016 Marwan Tayeh, PhD, FACMG Director, MMGL Molecular Genetics Assistant Professor of Pediatrics Department of Pediatrics
More informationBTK Inhibitors and BCL2 Antagonists
BTK Inhibitors and BCL2 Antagonists Constantine (Con) S. Tam Director of Haematology, St Vincent s Hospital Melbourne; Lead for Chronic Lymphocytic Leukemia and Indolent Lymphoma, Peter MacCallum Cancer
More informationINDIVIDUALIZED MEDICINE
CENTER FOR INDIVIDUALIZED MEDICINE George Vasmatzis, Ph.D., Director Biomarker Discovery Program Detecting Structural Variants from NGS Data: Methods Overview 2012 MFMER slide-1 Software Methods and Algorithms
More informationGP CME. James Liang Consultant Haematologist. Created by: Date:
GP CME James Liang Consultant Haematologist Date: Created by: Scenario 52 year old European male Fit and well Brother recently diagnosed with diabetes PMHx Nil Social Hx Ex-smoker stopped 5 years ago (20
More informationReporting cytogenetics Can it make sense? Daniel Weisdorf MD University of Minnesota
Reporting cytogenetics Can it make sense? Daniel Weisdorf MD University of Minnesota Reporting cytogenetics What is it? Terminology Clinical value What details are important Diagnostic Tools for Leukemia
More informationFluorescence in-situ Hybridization (FISH) ETO(RUNX1T1)/AML1(RUNX1) or t(8;21)(q21.3;q22)
PML/RARA t(15;17) Translocation Assay Result : nuc ish(pml 2)(RARA 2)[200] : 200/200(100%) interphase nuclei show normal 2O 2G signals for PML/RARA : is Negative for t(15;17)(q22;q21.1) 2 Orange 2 Green
More informationInfections and nonmicrobial inflammatory stimuli can cause leukocytosis (as seen in Lab 1) as well as lymph node enlargement (lymphadenopathy).
LAB 5: LYMPHOID TISSUE AND SKIN The focus of this week s lab will be pathology of the lymphoid tissue and skin. The lymphoid organs include the thymus, spleen, and lymph nodes. Abnormalities in the lymph
More informationDo acgh analysis have a place in routine cytogenetic workup in leukemia/cancer? - A single institution experience. Cambridge, April 9 th 2013
Do acgh analysis have a place in routine cytogenetic workup in leukemia/cancer? - A single institution experience. Cambridge, April 9 th 2013 Aarhus University Hospital Eigil Kjeldsen, Cancercytogenetic
More informationSmall, mature-appearing appearing
B-cell Chronic Lymphoproliferative Disorders of the Blood and Bone Marrow Disclosures I have nothing to disclose. Jeffrey L. Jorgensen, MD, PhD Department of Hematopathology, UT M.D. Anderson Cancer Center,
More informationPathology #07. Hussein Al-Sa di. Dr. Sohaib Al-Khatib. Mature B-Cell Neoplasm. 0 P a g e
Pathology #07 Mature B-Cell Neoplasm Hussein Al-Sa di Dr. Sohaib Al-Khatib 0 P a g e Thursday 18/2/2016 Our lecture today (with the next 2 lectures) will be about lymphoid tumors This is a little bit long
More informationMethods used to diagnose lymphomas
Institut für Pathologie Institut für Pathologie Methods used to diagnose lymphomas Prof. Dr.Med. Leticia Quintanilla-Fend Molecular techniques NGS histology Cytology AS-PCR Sanger seq. MYC Immunohistochemistry
More informationUnitedHealthcare Pharmacy Clinical Pharmacy Programs
UnitedHealthcare Pharmacy Clinical Pharmacy Programs Program Number 2018 P 1090-7 Program Prior Authorization/Notification Medication Revlimid (lenalidomide) P&T Approval Date 6/2009, 3/2010, 6/2010, 9/2010,
More informationCLL what do I need to know as an Internist in Taimur Sher MD Associate Professor of Medicine Mayo Clinic
CLL what do I need to know as an Internist in 218 Taimur Sher MD Associate Professor of Medicine Mayo Clinic Case 1 7 y/o white male for yearly medical evaluation Doing well and healthy Past medical history
More informationLymphoma: What You Need to Know. Richard van der Jagt MD, FRCPC
Lymphoma: What You Need to Know Richard van der Jagt MD, FRCPC Overview Concepts, classification, biology Epidemiology Clinical presentation Diagnosis Staging Three important types of lymphoma Conceptualizing
More informationIntegrated Diagnostic Approach to the Classification of Myeloid Neoplasms. Daniel A. Arber, MD Stanford University
Integrated Diagnostic Approach to the Classification of Myeloid Neoplasms Daniel A. Arber, MD Stanford University What is an integrated approach? What is an integrated approach? Incorporating all diagnostic
More informationLES CAHIERS CERBA. Recommendations for the diagnosis and interpretation of blood lymphocytosis
LES CAHIERS CERBA Recommendations for the diagnosis and interpretation of blood lymphocytosis written by B. Caron Servan, S. Defasque, C. Hémar, H. Mossafa Clinical pathologists, Laboratoire CERBA LES
More informationLow-grade B-cell lymphoma
Low-grade B-cell lymphoma Patho-Basic 11. September 2018 Stephan Dirnhofer Pathology Outline Definition LPL, MBL/CLL/SLL, MCL FL Subtypes & variants Diagnosis including Grading Transformation Summary Be
More informationGenerating Spontaneous Copy Number Variants (CNVs) Jennifer Freeman Assistant Professor of Toxicology School of Health Sciences Purdue University
Role of Chemical lexposure in Generating Spontaneous Copy Number Variants (CNVs) Jennifer Freeman Assistant Professor of Toxicology School of Health Sciences Purdue University CNV Discovery Reference Genetic
More informationCollected: , PM Sent: , PM Received: , PM Preliminary: , PM. Notification Status: COMPREHENSIVE DIAGNOSIS
PATIENT Name:HIPAA, Compliant DOB: 03-25-1945 (60 yr) ID#: xxx-xx-0000 Sex: M Tel: xxx-xxx-xxxx SPECIMEN Your No:WS05-xxxx Case No:C05-00xxx Req. No:Txxxxx Collected: 06-08-05, PM Sent: 06-09-05, PM Received:
More informationOutline. Chromosomal analysis FISH. Chromosomal abnormalities in cancer. Clinical application of cytogenetics. Procedure Nomenclature
Outline Chromosomal analysis Procedure Nomenclature FISH Procedure Probes Multicolor-FISH CGH Chromosomal abnormalities in cancer CML, MPD, MDS, AML, ALL, CLL, myeloma, lymphoma Clinical application of
More informationThe 1 World Congress on Controversies in Hematology (COHEM) Rome, September 2010
The 1 World Congress on Controversies in Hematology (COHEM) Rome, September 2010 Is the wait and watch philosophy still practical in the treatment of CLL even in younger patients? Expected to say NO Federico
More informationThe Challenges of Precision Medicine: New Advances in Molecular Diagnostic Testing- Impact for Healthcare
The Challenges of Precision Medicine: New Advances in Molecular Diagnostic Testing- Impact for Healthcare Jessica Wang-Rodriguez, MD Chief, VISN22 Consolidated Pathology and Laboratory Medicine Services
More informationClinical Genomics. Ina E. Amarillo, PhD FACMGG
Clinical Genomics Ina E. Amarillo, PhD FACMGG Associate Medical Director, Cytogenetics Lab (CaTG), Lab and Genomic Medicine Assistant Professor, Pathology and Immunology Outline Clinical Genomics Testing
More informationFlow cytometric analysis of B-cell lymphoproliferative disorders
Flow cytometric analysis of B-cell lymphoproliferative disorders David M. Dorfman, M.D., Ph.D. Department of Pathology Brigham and Women s Hospital and Harvard Medical School Boston, MA Objectives Review
More informationHematopathology Case Study
Hematopathology Case Study AMP Outreach Course 2009 AMP Annual Meeting John Greg Howe Ph.D. Department of Laboratory Medicine Yale University School of Medicine November 19, 2009 HISTORY Case History An
More informationGENETIC MARKERS IN LYMPHOMA a practical overview. P. Heimann Dpt of Medical Genetics Erasme Hospital - Bordet Institute
GENETIC MARKERS IN LYMPHOMA a practical overview P. Heimann Dpt of Medical Genetics Erasme Hospital - Bordet Institute B and T cell monoclonalities Rearrangement of immunoglobin and TCR genes may help
More informationLymphoma Update: Lymphoma Update: What s Likely to be New in the New WHO. Patrick Treseler, MD, PhD University of California San Francisco
Lymphoma Update: What s Likely to be New in the New WHO Blood 127:2375; 2016 Patrick Treseler, MD, PhD University of California San Francisco Lymphoma Update: What IS New in the New WHO! Patrick Treseler,
More informationLINFOMA B (INCLASIFICABLE) CON RASGOS INTERMEDIOS ENTRE LINFOMA DE BURKITT Y LINFOMA B DIFUSO DE CÉLULAS GRANDES.
Congreso Nacional SEAP 2013. LINFOMA B (INCLASIFICABLE) CON RASGOS INTERMEDIOS ENTRE LINFOMA DE BURKITT Y LINFOMA B DIFUSO DE CÉLULAS GRANDES. Santiago Montes Moreno Servicio de Anatomía Patológica, HUMV
More informationat least 5 probes standard 8 probes (13, 15, 16, 18, 21, 22, 15, X, Y) at least 5 probes standard 8 probes (13, 15, 16, 18, 21, 22, X, Y)
Management of FISH probe testing Petra Musilová et al. Repromeda, Brno, Czech Rep. Veterinary Research Institute, Brno Genprogress, Brno, Czech Rep. Aneuploidy screening at least 5 probes standard 8 probes
More informationOutlines. Disclosures. Updates on B-cell Chronic Lymphoproliferative Disorders of the Blood and Bone Marrow
Updates on B-cell Chronic Lymphoproliferative Disorders of the Blood and Bone Marrow Sa A, Wang MD Jeffrey L. Jorgensen, MD, PhD Department of Hematopathology, UT M.D. Anderson Cancer Center, Houston,
More informationDefining Actionable Novel Discoveries, Annotating Genomes, and Reanalysis in Cancer A Laboratory Perspective
Integrating Large-Scale Genomic Information into Clinical Practice: A Workshop Defining Actionable Novel Discoveries, Annotating Genomes, and Reanalysis in Cancer A Laboratory Perspective Federico A. Monzon
More informationSeptember 04, 2008
27027 Tourney Road Valencia, CA 91355 800 421 7110 www.specialtylabs.com Test Updates September 04, 2008 Dear Valued Client: As you may be aware, in recent years there has been a tremendous challenge in
More informationChronic Lymphocytic Leukaemia and Its Challenges for Insurers
Chronic Lymphocytic Leukaemia and Its Challenges for Insurers Sheetal Salgaonkar, M.D. Medical Director RGA Services India Private Limited Chronic lymphocytic leukaemia (CLL) is a slow-developing cancer
More informationSession 5. Pre-malignant clonal hematopoietic proliferations. Chairs: Frank Kuo and Valentina Nardi
Session 5 Pre-malignant clonal hematopoietic proliferations Chairs: Frank Kuo and Valentina Nardi Pre-malignant clonal hematopoietic proliferations Clonal LYMPHOID proliferations: - Monoclonal gammopathy
More informationCase Report Parotid gland follicular lymphoma lacking both cytoplasmic and surface light chains: a rare case
Int J Clin Exp Pathol 2014;7(10):7100-7104 www.ijcep.com /ISSN:1936-2625/IJCEP0001717 Case Report Parotid gland follicular lymphoma lacking both cytoplasmic and surface light chains: a rare case Jenny
More informationManagement of CLL in the Targeted Therapy Era
Management of CLL in the Targeted Therapy Era Jennifer A. Woyach, MD The Ohio State University The Ohio State University Comprehensive Cancer Center Arthur G. James Cancer Hospital and Richard J. Solove
More informationCYTOGENETICS INTRODUCTION SPECIAL INSTRUCTIONS ON SAMPLE COLLECTION AND HANDLING
INTRODUCTION The Cytogenetics Laboratory offers a comprehensive array of chromosome investigations for cancers, constitutional abnormalities, and prenatal and postnatal diagnosis. Analyses are performed
More informationThe Lymphomas. An overview..
The Lymphomas An overview.. Peter Anglin MD, FRCPC, MBA Stronach Regional Cancer Centre Newmarket, ON The lymphomas are an important part of the history of medicine 1666 Magpighi publishes first recorded
More informationTEST 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 informationGeorg Hopfinger 3. Med.Abt and LBI for Leukemiaresearch and Haematology Hanusch Krankenhaus,Vienna, Austria
Chronic lymphocytic Leukemia Georg Hopfinger 3. Med.Abt and LBI for Leukemiaresearch and Haematology Hanusch Krankenhaus,Vienna, Austria georg.hopfinger@wgkk.at CLL Diagnosis and Staging Risk Profile Assessment
More information