Dysfunctional Families Annette S. Kim, MD, PhD Associate Professor, Harvard Medical School Brigham and Women s Hospital
|
|
- Ira Gilmore
- 6 years ago
- Views:
Transcription
1 Dsfunctional Families Annette S. Kim, MD, PhD Associate Professor, Harvard Medical School Brigham and Women s Hospital Disclosure of Relevant Financial Relationships USCAP requires that all planners (Education Committee) in a position to influence or control the content of CME disclose an relevant financial relationship WITH COMMERCIAL INTERESTS which the or their spouse/partner have, or have had, within the past 12 months, which relates to the content of this educational activit and creates a conflict of interest. Dr. Annette S. Kim declares no conflict(s) of interest to disclose Initial Presentation 55 o M diagnosed with AML after 5 ears of thromboctopenia CBC at ation: > 9.0 (102.4) < 86 Diff: N 30 L 14 Mo 14 Ba 7 Meta 2 Melo 2 Pro 6 Blast 25 BMB: >95% cellularit, 80% blasts, micromegakaroctes Normal karotpe Flow ctometr: Positive: CD45(dim), CD13, CD33, CD34, CD117, HLA-DR Negative: CD3, CD5, CD7, CD11b, CD14, CD15, CD19, CD20, CD64 Initial Molecular Results Brigham and Women s Hospital Rapid Heme Panel 95 gene amplicon-based assa Illumina MiSeq Identification of SNVs and CNVs TAT <7d (2-3runs/week, 30 patients/run) Tpical run Average coverage: X >200 coverage: >90% <50 coverage: <5% Variant allele fraction Gene Variant (c.) Variant (p.) Diagnosis (BM) ASXL1 c.2070_2071deltc p.d690fs* 49.6% IDH1 c.394c>t p.r132c 14.0% KRAS c.34g>c p.g12r 4.0% NRAS c.37g>t p.g13c 41.7% SRSF2 c.284c>t p.p95l 33.3% Assa described in Kluk MJ et al. J Mol Diagn. 2016;18:
2 Interval Histor Post re-induction Subsequent Biops Induction (7+3) and re-induction due to residual blasts on das 15 and 27 At end of re-induction, less than 5% blasts In the following 9 months, CBCs during these 9 months were notable for a leukoctosis (up to 55 K/uL) with a monoctosis (up to 32%), thromboctopenia (12-36 K/uL), and anemia ( g/dl) Subsequent bone marrow biopsies showed 5-10% blasts Hpercellular marrow Dsplasia (small hpolobated megakaroctes, atpical monoctes) D: Chronic melomonoctic leukemia (CMML-1) R: Decitabine CD34 CD34 Interval Molecular Results Gene Variant (c.) Variant (p.) Diagnosis (BM) 3 months (BM) 7 month (BM) ASXL1 c.2070_2071deltc p.d690fs* 49.6% 51.2% 41.0% ETV6 c.459_460insg p.e153fs* 21.0% 15.1% IDH1 c.394c>t p.r132c 14.0% NRAS c.35g>a p.g12d 22.1% 21.6% NRAS c.37g>t p.g13c 41.7% 24.3% 26.5% RUNX1 c.736_737insc p.p245fs* 37.2% 25.3% SRSF2 c.284c>t p.p95l 33.3% 26.2% 22.9% Bad Skin Over a 5 month period, the patient noted slowl progressive pink-ellowish papules on the trunk and etremities while on decitabine. Some became necrotic, other became coalescent. Skin biopsies were performed. CBC: 5.42 > 8.3 (91.3) < 39 (N 52 L 15 Mo 20 Eo 2 Ba 4 Meta 3 ) CD34 CD163 CD56 Langerin CD1a Lsozme Positive for: S100 (subset), CD33 (uniform), Ki67 (20-30%) Negative for: BRAF V600E, TCL1, CD123, GranzmeB, MPO Skin Molecular Results Gene Variant (c.) Variant (p.) Diagnosis (BM) 3 months (BM) 7 month (BM) 10 month (skin) ASXL1 c.2070_2071deltc p.d690fs* 49.6% 51.2% 41.0% 46.0% ETV6 c.459_460insg p.e153fs* 21.0% 15.1% IDH1 c.394c>t p.r132c 14.0% 31.2% KRAS c.182a>g p.q61r 24.5% NRAS c.35g>a p.g12d 22.1% 21.6% 2.2% NRAS c.37g>t p.g13c 41.7% 24.3% 26.5% 7.8% RUNX1 c.736_737insc p.p245fs* 37.2% 25.3% 11.9% SRSF2 c.284c>t p.p95l 33.3% 26.2% 22.9% 16.1% 2
3 But wait, there is more Diagnosis- What is in a name? Gene Variant (c.) Variant (p.) Diagnosis (BM) 3 months (BM) 7 month (BM) 10 month (skin) 13 month (skin) 13 month (BM) ASXL1 c.2070_2071deltc p.d690fs* 49.6% 51.2% 41.0% 46.0% 33.1% 43.2% ETV6 c.459_460insg p.e153fs* 21.0% 15.1% 6.9% 8.7% IDH1 c.394c>t p.r132c 14.0% 31.2% 41.4% 4.3% KRAS c.182a>g p.q61r 24.5% 33.4% NRAS c.35g>a p.g12d 22.1% 21.6% 2.2% 3.4% 32.2% NRAS c.37g>t p.g13c 41.7% 24.3% 26.5% 7.8% 1.8% 13.3% RUNX1 c.736_737insc p.p245fs* 37.2% 25.3% 11.9% 17.4% 28.5% SRSF2 c.284c>t p.p95l 33.3% 26.2% 22.9% 16.1% 34.5% 33.0% BRAF c.1786g>c p.g596r 28.9% Cutaneous involvement b the patient s known meloid neoplasm (leukemia cutis) (with partial Langerhans cell differentiation) Wh is this an Evening Smposium Case? Differential diagnosis of skin lesions in a patient with leukemia Leukemias with cutaneous histioctic lesions Clonal relatedness- stage of maturation matters Differential Diagnosis of Skin Lesions in Patients with Leukemia Unrelated to Leukemia Secondar to Treatment Associated with Leukemia Unrelated SCC Unrelated BCC Other unrelated neoplasm or proliferation Graft-versus-host disease Infection Drug eruption Sweet's sndrome (neutrophilic) Sweet s sndrome (histioctoid) Langerhans cell histioctosis Other accumulations of histioctes/dendritic cells Histioctoid slightl more prevalent in HMs Bush and Wick. J Cutan Pathol. 2016;43: Sweet s Sndrome CD68 MPO Ghoufi et al.. Medicine. 2016;95:e3033. Histioctoid Processes Associated with Hematopoietic Neoplasms Histioctoid Process Immunophenotpe Associated Hematologic Neoplasms Generalized Eruptive Histioctosis CD68+, CD163+, CD14+, CD56-, CD123-, AML, FIP1L1-PDGFRA, CMML* CD1a-, S100-, Langerin-, FXIIIa- Langerhans Cell Histioctosis Langerhans Cell Sarcoma Meloid Dendritic Cell Dscrasia Plasmactoid Dendritic Cells Blastic Plasmactoid Dendritic Cell Neoplasms, Blastic Indeterminate Dendritic Cell Tumors, Melomonoctic Cell Tumors CD1a+, S100+, CD4, Langerin+/-, CD68+/-, CD56-/+ (high mitotitc rate and atpia) S100+, CD1a+, Langerin+, CD68+/-, usuall MPO-, CD33-, CD56-, lsozme+/- Lsozme+, GranzmeB+, BDCA-3+, MPO-, CD163/CD68+/- CD4+, CD56-, CD123+, CD68+, GranzmeB+, BDCA2+, TCL1+, MA+ BPDCN: CD123+, CD4+, CD56+/-, TCL1+; BiDCT: CD68+, CD1a+, CD33+,, CD56+/-, Langerin-, CD123- MMCT: CD68+, CD33+, MPO+ AML, MDS, JMML, CMML, T-ALL*, DLBCL, PTCL, histioctic sarcoma, ABL, ALL AML MDS, PMF, AML *Proven to be clonall related b ctogenetics or molecular CMML*, AML*, MPN*, MDS/MPN* CMML (all terms from 1 paper) Associated with Leukemia Unrelated to Leukemia Secondar to Treatment Associated with Leukemia Reactive to the leukemia Sweet s Sndrome Sweet s Sndrome Meloid Neoplasm Leukemia cutis (all neoplastic leukoctic infiltrates in the skin) Other Histioctic Proliferations Reactive to the leukemia Other Histioctic Proliferations 3
4 Passengers, Drivers, Backseat Drivers, and Boston Drivers = variable number of passenger mutations = founder mutation(s) z = secondar mutation(s) n = progression mutation(s) z z +n Mastoctosis HSC Initiation Evolution Defining MDS/MPNs MPNs SM RAS pathwa JAK2/CALR KIT Signaling Transcription All Epigenetic TET2, ASXL1 CNL CSF3R All RNA Splicing SRSF2, (SF3B1*, U2AF1, ZRSR2) z z +n Jawhar et al. Leukemia. 2015;29: Acquisition of KIT variant is a late event and, ecept in ASM-AHN, occurs onl in more differentiated mast cells. PRESENTATION Dsfunctional TITLE Families ASXL1 Major TET2 Subclone(s): and/or SRSF2SRSF2, NRAS, IDH1, KRAS KIT Adapted from: Mikael Häggström, from original b A. Rad - Image:Hematopoiesis (human) diagram.png b A. Rad. ETV6, RUNX1, NRAS KRAS BRAF? IDH1 Where in the famil tree did things go wrong? Gene Variant (p.) AML CMML Skin ASXL1 p.d690fs* 49.6% 41.0% 46.0% ETV6 p.e153fs* 15.1% IDH1 p.r132c 14.0% 31.2% KRAS p.g12r 4.0% KRAS p.q61r 24.5% NRAS p.g12d 21.6% 2.2% NRAS p.g13c 41.7% 26.5% 7.8% RUNX1 p.p245fs* 25.3% 11.9% SRSF2 p.p95l 33.3% 22.9% 16.1% BRAF p.g596r p.g596r found in colon, lung, bladder, and skin (cell line) INACTIVATING variant in vitro BRAF Moretti et al. Biochim Biophs Acta. 2009;1793: Take Home Messages Leukemia cutis is a ver broad term and does NOT mean cutaneous involvement b an acute leukemia Processes ma demonstrate a spectrum of maturation, and man cases just don t fit into a bo Clonal evolution can be implied b sampling multiple samples over time and comparing mutations and variant allele fractions (VAFs) This case involves at least three different clinical, morphologic, immunophenotpic, and molecular stages of differentiation of the same meloid neoplasm Mabe pathologists should be lumpers and not splitters (or lumpers and splitters ) Case 3 Panelists Diagnoses Langerhans cell sarcoma (DD: histioctic sarcoma, CMML) possibl related to AML Residual AML (5-10% blasts, dsmegakaropoiesis) on decitabine showing monoctosis in peripheral blood and differentiation to Langerhans cells in skin Underling CMML with cutaneous involvement PRESENTATION TITLE 4
5 References Ziegler et al. JAMA Dermatol. 2015;151: (GEH with PDGFRA) *Shon et al. J Cutan Pathol. 2013;40: (*GEH with CMML, loss of Y) Klemke et al. J Am Acad Dermatol. 2003;49: (GEH with AMML) Montero et al. Actas Dermosifiliogr. 2012;103: (GEH with CMML) Magro et al. Ann Diagn Pathol. 2016;25: (MDC with HMs) Sagransk et al. Am J Dermatopathol. 2013;35: (LCS with AML) Ozono et al. Int J Hematol. 2011;93: (LCH-like with JMML) Xu et al. Int J Clin Ep Med. 2015;8: (LCH and AML) Iwasaki et al. J Dermatol. 2013;41: , (LCH and CMML with review of other HMs) Edelbroek et al. Br J Dermatol. 2012;167: (LCH with HM) Pina-Oviedo et al. Am J Dermatopathol. 2016; epub (PMID ) (LCH with LC AML) *Rodig et al. Am J Hematol. 2008;83: (*LCH and T-ALL, NOTCH1 mutated) *Dargent et al. J Cutan Pathol. 2016;43: (*PDC and CMML, +13) *Vermi et al. Am J Surg Pathol. 2004;28: (*PDCs and meloid neoplasms, -7) Vitte et al. Am J Surg Pathol. 2012;36: (MMCT, MPDCP, BPDCN, BIDCT and CMML) Jawhar et al. Leukemia. 2015;29: (Mast cell neoplasm) Bush and Wick. J Cutan Pathol. 2016;43: (Sweet s sndrome) Ghoufi et al.. Medicine. 2016;95:e3033. (Sweet s sndrome) Moretti et al. Biochim Biophs Acta. 2009;1793: (BRAF variants) Mossner et al. Blood. 2016;128: (clonal evolution in MDS) Acknowledgments A special thanks to members of the AMP Chronic Meloid Neoplasm working group: Rebecca McClure Mark Ewalt Jennifer Crow Rachel Sargent Also, thanks to all m colleagues at BWH/DFCI for man informative conversations! Gabriel Griffin Jon Aster Vignesh Shanmugam Coleman Lindsle Elizabeth Morgan Frank Kuo Scott Granter Neal Lindeman Jason Hornick Important Information Regarding CME/SAMs The Online CME/Evaluations/SAMs claim process will onl be available on the USCAP website until September 30, No claims can be processed after that date! After September 30, 2017 ou will NOT be able to obtain an CME or SAMs credits for attending this meeting. 5
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 information9/25/2017. Disclosure. I have nothing to disclose. Young S. Kim MD Dept. of Pathology
Disclosure MAST CELLNEOPLASM I have nothing to disclose. Young S. Kim MD Dept. of Pathology 1 Objectives What is mast cell lineage? Changes in updated WHO 2016 mastocytosis Issues of Mastocytosis CD30
More informationHematolymphoid lesions of the skin Part II Myeloid neoplastic proliferations Houston Society of Clinical Pathologists Symposium April 14, 2018
Hematolymphoid lesions of the skin Part II Myeloid neoplastic proliferations Houston Society of Clinical Pathologists Symposium April 14, 2018 Carlos A. Torres-Cabala, MD Associate Professor Chief, Dermatopathology
More informationBlastic 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 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 informationLaboratory 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 informationInsights into the Cell-of-Origin of the Histiocytoses Using Patient-Derived Xenograft Models
Insights into the Cell-of-Origin of the Histiocytoses Using Patient-Derived Xenograft Models 4 th Annual International Erdheim-Chester Disease Medical Symposium Paris, France September 15, 2016 Benjamin
More informationIntroduction 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 informationNext 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 information3/24/2017 DENDRITIC CELL NEOPLASMS: HISTOLOGY, IMMUNOHISTOCHEMISTRY, AND MOLECULAR GENETICS. Disclosure of Relevant Financial Relationships
DENDRITIC CELL NEOPLASMS: HISTOLOGY, IMMUNOHISTOCHEMISTRY, AND MOLECULAR GENETICS Jason L. Hornick, M.D., Ph.D. Director of Surgical Pathology and Immunohistochemistry Brigham and Women s Hospital Professor
More informationPathogenesis and management of CMML
Pathogenesis and management of CMML Raphaël Itzykson, Hôpital Saint-Louis, Paris International Conference of the Korean Society of Hematology March 29th 2018 대한혈액학회 Korean Society of Hematology COI disclosure
More informationDiagnostic Approach for Eosinophilia and Mastocytosis. Curtis A. Hanson, M.D.
Diagnostic Approach for Eosinophilia and Mastocytosis Curtis A. Hanson, M.D. 2014 MFMER slide-1 DISCLOSURES: Relevant Financial Relationship(s) None Off Label Usage None 2014 MFMER slide-2 Molecular Classification
More information2007 Workshop of Society for Hematopathology & European Association for Hematopathology Indianapolis, IN, USA Case # 228
2007 Workshop of Society for Hematopathology & European Association for Hematopathology Indianapolis, IN, USA Case # 228 Vishnu V. B Reddy, MD University of Alabama at Birmingham Birmingham, AL USA 11/03/07
More informationIllumina 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 informationOpportunities for Optimal Testing in the Myeloproliferative Neoplasms. Curtis A. Hanson, MD
Opportunities for Optimal Testing in the Myeloproliferative Neoplasms Curtis A. Hanson, MD 2013 MFMER slide-1 DISCLOSURES: Relevant Financial Relationship(s) None Off Label Usage None 2013 MFMER slide-2
More informationAcute 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 informationLaboratory 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 informationChronic Myelomonocytic Leukemia with molecular abnormalities SH
Chronic Myelomonocytic Leukemia with molecular abnormalities SH2017-0351 Madhu P. Menon MD,PhD, Juan Gomez MD, Kedar V. Inamdar MD,PhD and Kristin Karner MD Madhu P Menon, MD, PhD Henry Ford Hospital Patient
More informationDISCLOSURE 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 informationSession 7 Summary. Magdalena Czader, MD, PhD David Czuchlewski, MD MOLECULAR GENETICS OF HEMATOPOIETIC NEOPLASMS
Session 7 Summary Magdalena Czader, MD, PhD David Czuchlewski, MD MOLECULAR GENETICS OF HEMATOPOIETIC NEOPLASMS 1 Cases according to 2016 WHO classification Acute myeloid leukemia: 26 AML with recurrent
More information3/22/2017. Disclosure of Relevant Financial Relationships. Disclosure of Relevant Financial Relationships. Grading G1. Grading. Ki67 index V.
Disclosure of Relevant Financial Relationships USCAP requires that all planners (Education Committee) in a position to influence or control the content of CME disclose any relevant financial relationship
More informationConcomitant 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 informationSession 4: Summary and Conclusions
Session 4: Summary and Conclusions Total cases in Session 4 Myeloproliferative neoplasms 16 cases Oral #300 (CEL, NOS) Mastocytosis 2 cases Oral #156 (SM-AHN) Myeloid/lymphoid neoplasms with eosinophilia
More informationNext 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 informationThe 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 informationMolecular profiling in confirming the diagnosis of early myelodysplastic syndrome
Molecular profiling of early MDS Hematopathology - March 2016 Article Molecular profiling in confirming the diagnosis of early myelodysplastic syndrome Maya Thangavelu 1,*, Ryan Olson 2, Li Li 2, Wanlong
More informationSession II: Summary. Robert P Hasserjian, MD Professor of Pathology Massachusetts General Hospital and Harvard Medical School
Session II: Summary Robert P Hasserjian, MD Professor of Pathology Massachusetts General Hospital and Harvard Medical School Disclosure of speaker s interests (Prefix and Last Name) (Potential) conflict
More informationMyelodysplastic syndromes
Myelodysplastic syndromes Robert P Hasserjian Massachusetts General Hospital, Boston, MA Disclosure of Relevant Financial Relationships Dr. Hasserjian declares he has no conflict(s) of interest to disclose.
More informationOut-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 informationCase 1. Sa A.Wang, MD UT MD Anderson Cancer Center Houston, TX
Case 1 Sa A.Wang, MD UT MD Anderson Cancer Center Houston, TX Disclosure of Relevant Financial Relationships The USCAP requires that anyone in a position to influence or control the content of all CME
More informationTargeted NGS in oncology and hemato-oncology using in-house designed gene panels. Joni Van der Meulen Molecular Diagnostics UZ Ghent (MDG) 24/03/2017
Targeted NGS in oncology and hemato-oncology using in-house designed gene panels Joni Van der Meulen Molecular Diagnostics UZ Ghent (MDG) 24/03/2017 MDG = Molecular Diagnostics UZ Ghent Center for Medical
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 informationNeoTYPE 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 informationOverview. 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 informationPublished 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 informationWhen Cancer Looks Like Something Else: How Does Mutational Profiling Inform the Diagnosis of Myelodysplasia?
Transcript Details This is a transcript of a continuing medical education (CME) activity accessible on the ReachMD network. Additional media formats for the activity and full activity details (including
More informationNeoTYPE 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 informationCase #1. 65 yo man with no prior history presented with leukocytosis and circulating blasts: Bone marrow biopsy was performed
Case #1 65 yo man with no prior history presented with leukocytosis and circulating blasts: WBC 187.4K/uL ; Hgb 10.0gm/dL; Platelet 68K/uL Neutrophil % 25.0% Lymphocyte % 38.0% Monocyte % 12.0% Metamyelocyte
More informationHematopathology Specialty Conference Case #1
Hematopathology Specialty Conference Case #1 Robert (Bob) Ohgami, MD, PhD Assistant Professor Stanford University Disclosure of Relevant Financial Relationships Disclosure of Relevant Financial Relationships
More information3/27/2017. Pulmonary Pathology Specialty Conference. Disclosure of Relevant Financial Relationships. Clinical History:
Pulmonary Pathology Specialty Conference Saul Suster, M.D. Medical College of Wisconsin Disclosure of Relevant Financial Relationships USCAP requires that all planners (Education Committee) in a position
More informationCase Presentation. Attilio Orazi, MD
Case Presentation Attilio Orazi, MD Weill Cornell Medical College/ NYP Hospital Department of Pathology and Laboratory Medicine New York, NY United States History 60 year old man presented with anemia
More informationPatricia 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 informationSH/EAHP Workshop 2011 Los Angeles, California, USA. October 27-29, Session 5. Other Lymphohistiocytic Malignancies of the Skin
SH/EAHP Workshop 2011 Los Angeles, California, USA October 27-29, 2011 Session 5 Other Lymphohistiocytic Malignancies of the Skin Dr. Patty Jansen Dr. Leticia Quintanilla-Fend Submitted cases session
More informationAugust 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 informationSESSION 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 informationMyelodysplastic/Myeloproliferative Neoplasms (MDS/MPN) Updated
Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN) Updated Attilio Orazi, MD, FRCPath. (Engl.) Professor of Pathology and Laboratory Medicine Weill Cornell Medical College/NYP Hospital New York, NY
More informationCLINICAL 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 informationMayo 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 informationThe spectrum of flow cytometry of the bone marrow
The spectrum of flow cytometry of the bone marrow Anna Porwit Lund University Faculty of Medicine Dept. of Clinical Sciences Div. Oncology and Pathology anna.porwit@med.lu.se Disclosure of speaker s interests
More informationASBMT MDS/MPN UPDATE
ASBMT MDS/MPN UPDATE Sunil Abhyankar, MD Professor of Medicine Medical Director, Pheresis and Cell Processing Division of Hematologic Malignancies and Cellular Therapeutics Department of Internal Medicine
More informationA pediatric patient with acute leukemia of ambiguous lineage with a NUP98-NSD1 rearrangement SH
A pediatric patient with acute leukemia of ambiguous lineage with a NUP98NSD1 rearrangement SH20170203 Rebecca LeemanNeill, Ronald Rice, Anita Malek, Patricia Raciti, Susan Hsiao, Mahesh Mansukhani, Bachir
More informationCase Presentation. Pei Lin, M. D.
Case Presentation Pei Lin, M. D. History A 26 yr man reports a history of numerous skin and upper respiratory infections as a child, including lymphadenitis and meningitis. In March 2013 during a preoperative
More informationDisclosures for Ayalew Tefferi
Disclosures for Ayalew Tefferi Principal investigator role Employee Consultant Major Stockholder Speakers Bureau Scientific Advisory Board Janssen, Geron, Celgene, Sanofi-Aventis, Gilead Sciences, Incyte
More informationSUPPLEMENTARY INFORMATION
Supplementary Information S1 Frequency of DNMT3A mutations in hematologic disorders and their associated clinical phenotypes. Disease Patient population Frequency (%) Associated Clinical Characteristics
More informationASBMT MDS/MPN Update Sunil Abhyankar, MD
ASBMT MDS/MPN Update Sunil Abhyankar, MD Professor of Medicine Medical Director, Pheresis and Cell Processing Division of Hematologic Malignancies and Cellular Therapeutics Department of Internal Medicine
More informationManagement 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 informationEnhancing 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 informationDisclosures for Ayalew Tefferi
Disclosures for Ayalew Tefferi Principal investigator role Employee Consultant Major Stockholder Speakers Bureau Scientific Advisory Board Janssen, Geron, Celgene, Sanofi-Aventis, Gilead Sciences, Incyte
More informationJuvenile and Chronic Myelo-Monocytic Leukemia
Juvenile and Chronic Myelo-Monocytic Leukemia Haematopoietic stem cell Lympho-myeloid progenitor cell MEP CFU-GM lymphoid progenitor cell BFU-E CFU-MK CFU-E erythro CFU-M CFU-G CFU-T CFU-B MGK red blood
More informationSupplemental 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 informationCME/SAM. Olga Pozdnyakova, MD, PhD, 1 Svetlana Kondtratiev, MD, 1,2 Betty Li, MS, 1 Karry Charest, 1 and David M. Dorfman, MD, PhD 1.
Hematopathology / New Mastocytosis Flow Cytometry Approach High-Sensitivity Flow Cytometric Analysis for the Evaluation of Systemic Mastocytosis Including the Identification of a New Flow Cytometric Criterion
More information3/31/2017. Disclosure of Relevant Financial Relationships
Disclosure of Relevant Financial Relationships USCAP requires that all planners (Education Committee) in a position to influence or control the content of CME disclose any relevant financial relationship
More informationWHO Update to Myeloproliferative Neoplasms
WHO Update to Myeloproliferative Neoplasms Archana M Agarwal, MD, Associate Professor of Pathology University of Utah Department of Pathology/ARUP Laboratories Myeloproliferative Neoplasms The categories
More informationADRL 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 informationMutational 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 informationWelcome to Master Class for Oncologists. Session 3: 9:15 AM - 10:00 AM
Welcome to Master Class for Oncologists Session 3: 9:15 AM - 10:00 AM Miami, FL December 18, 2009 Myeloproliferative Neoplasms: Bringing Order to Complexity and Achieving Optimal Outcomes Speaker: Andrew
More informationSummary of Key AML Abstracts Presented at the American Society of Hematology (ASH) December 2-6, San Diego CA
Summary of Key AML Abstracts Presented at the American Society of Hematology (ASH) December 2-6, 2016 - San Diego CA ASH 2016 ANNUAL MEETING: ABSTRACT SEARCH PAGE: https://ash.confex.com/ash/2016/webprogram/start.html
More informationChronic myelomonocytic leukemia. Lymphoma Tumor Board. May 26, 2017
Chronic myelomonocytic leukemia Lymphoma Tumor Board May 26, 2017 Myeloproliferative Neoplasms CMML has an estimated incidence of less than 1 per 100,000 persons per year Myeloproliferative neoplasms (MPN)
More informationThe Role of Next Generation Sequencing in Solid Tumor Mutation Testing
The Role of Next Generation Sequencing in Solid Tumor Mutation Testing Allie H. Grossmann MD PhD Department of Pathology, University of Utah Division of Anatomic Pathology & Oncology, ARUP Laboratories
More informationMDS/MPN: What it is and How it Should be Treated?
MDS/MPN: What it is and How it Should be Treated? MDS MPN Rachel Salit, MD Assistant Member Fred Hutchinson Cancer Research Center rsalit@fredhutch.org MDS Founda>on Pa>ent & Family Forum: May 20, 2017
More informationExtramedullary precursor T-lymphoblastic transformation of CML at presentation
Extramedullary precursor T-lymphoblastic transformation of CML at presentation Neerja Vajpayee, Constance Stein, Bernard Poeisz & Robert E. Hutchison Clinical History 30 year old man presented to the emergency
More informationSWOG ONCOLOGY RESEARCH PROFESSIONAL (ORP) MANUAL LEUKEMIA FORMS CHAPTER 16A REVISED: DECEMBER 2017
LEUKEMIA FORMS The guidelines and figures below are specific to Leukemia studies. The information in this manual does NOT represent a complete set of required forms for any leukemia study. Please refer
More informationJuan 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 informationDisclosures for Ayalew Tefferi
Disclosures for Ayalew Tefferi Principal investigator role Employee Consultant Major Stockholder Speakers Bureau Scientific Advisory Board Janssen, Geron, Celgene, Sanofi-Aventis, Gilead Sciences, Incyte
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 informationSupporting 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 information5/21/2018. Disclosures. Objectives. Normal blood cells production. Bone marrow failure syndromes. Story of DNA
AML: Understanding your diagnosis and current and emerging treatments Nothing to disclose. Disclosures Mohammad Abu Zaid, MD Assistant Professor of Medicine Indiana University School of Medicine Indiana
More informationMyelodysplastic 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 informationMyelodysplastic 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 informationLiquid biopsy in lung cancer: The EGFR paradigm
Liquid biopsy in lung cancer: The EGFR paradigm Lynette M. Sholl, M.D. Brigham and Women s Hospital Dana Farber Cancer Institute Department of Pathology Boston, MA Disclosure of Relevant Financial Relationships
More informationHepatic Lymphoma Diagnosis An Algorithmic Approach
Hepatic Lymphoma Diagnosis An Algorithmic Approach Ryan M. Gill, M.D., Ph.D. University of California, San Francisco PLEASE TURN OFF YOUR CELL PHONES Disclosure of Relevant Financial Relationships USCAP
More informationCorrigenda. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (revised 4th edition): corrections made in second print run
Corrigenda WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (revised 4th edition): corrections made in second print run In addition to corrections of minor typographical errors, corrections
More informationACCME/Disclosures 4/13/2016. Clinical History
ACCME/Disclosures The USCAP requires that anyone in a position to influence or control the content of CME disclose any relevant financial relationship WITH COMMERCIAL INTERESTS which they or their spouse/partner
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 informationMolecular. 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 informationMyeloproliferative Neoplasms
Myeloproliferative Neoplasms (MPN and MDS/MPN) Attilio Orazi, MD, FRCPath Weill Cornell Medical College/ NY Presbyterian Hospital, New York, NY USA EAHP EDUCATIONAL SESSION: Updated WHO classification
More informationSystemic mastocytosis:
Systemic mastocytosis: Flow cytometry and Molecular Biology Katrien Vermeulen 21 oktober 2016 Cuteanous mastocytosis Major criterion Typical skin lesions of mastocytosis associated with Darier s sign Minor
More informationMyelodysplastic Syndromes: Hematopathology. Analysis of SHIP1 as a potential biomarker of Disease Progression
Myelodysplastic Syndromes: Hematopathology. Analysis of SHIP1 as a potential biomarker of Disease Progression Carlos E. Bueso-Ramos, M.D., Ph.D Department of Hematopathology The University of Texas M.
More informationFortgeschrittene systemische Mastozytose Hintergrundinformationen zu einer seltenen Erkrankung und zur ersten zugelassenen Therapie
Fortgeschrittene systemische Mastozytose Hintergrundinformationen zu einer seltenen Erkrankung und zur ersten zugelassenen Therapie Georgia Metzgeroth Hämatologie und Onkologie III. Medizinische Klinik
More informationThe 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 informationACCME/Disclosures. History. Hematopathology Specialty Conference Case #4 4/13/2016
Hematopathology Specialty Conference Case #4 Sherrie L. Perkins MD, PhD University of Utah ACCME/Disclosures The USCAP requires that anyone in a position to influence or control the content of CME disclose
More informationMPN What's new in the morphological classification, grading of fibrosis and the impact of novel drugs
MPN What's new in the morphological classification, grading of fibrosis and the impact of novel drugs Hans Michael Kvasnicka University of Frankfurt, Germany hans-michael.kvasnicka@kgu.de Disclosure of
More informationNovità nelle MDS. Matteo G Della Porta. Cancer Center IRCCS Humanitas Research Hospital & Humanitas University Rozzano Milano, Italy
Novità nelle MDS Matteo G Della Porta Cancer Center IRCCS Humanitas Research Hospital & Humanitas University Rozzano Milano, Italy matteo.della_porta@hunimed.eu Outline ARCH Predictive value of somatic
More informationAPPROACH TO MYELODYSPLASTIC SYNDROMES IN THE ERA OF PRECISION MEDICINE
APPROACH TO MYELODYSPLASTIC SYNDROMES IN THE ERA OF PRECISION MEDICINE Rashmi Kanagal-Shamanna, MD Assistant Professor Hematopathology & Molecular Diagnostics Department of Hematopathology The University
More informationSupplementary Figure 1
Supplementary Figure 1 A B HEC1A PTEN +/+ HEC1A PTEN -/- 16 HEC1A PTEN -/- 22 PTEN RAD51 % Cells with RAD51 foci 40 -IR +IR 30 20 10 * *! TUBULIN 0 HEC1A PTEN+/+ HEC1A PTEN-/- 16 HEC1A PTEN-/- 22 C D 1.0
More information6/12/2018. Disclosures. Clinical Genomics The CLIA Lab Perspective. Outline. COH HopeSeq Heme Panels
Clinical Genomics The CLIA Lab Perspective Disclosures Raju K. Pillai, M.D. Hematopathologist / Molecular Pathologist Director, Pathology Bioinformatics City of Hope National Medical Center, Duarte, CA
More informationGenetic 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 informationExamining 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 informationObjectives 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 informationApproaching myeloid neoplasms: diagnostic algorithms
Approaching myeloid neoplasms: diagnostic algorithms Alexandar Tzankov Histopathology Pathology Content Integration of clinical and laboratory data Bone marrow evaluation approaching Myeloproliferative
More information