Case Presentation. Pei Lin, M. D.
|
|
- Ralph Gibson
- 5 years ago
- Views:
Transcription
1 Case Presentation Pei Lin, M. D.
2 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 evaluation to debride MRSA of the right shoulder, CBC showed WBC 2.2 k/ul and platelet count 120K/uL. In June 5, 2013, seen for gingivitis and sinusitis WBC 1.84 k/ul, Hgb 12.5 g/dl, Platelet count 165.
3 History He was referred to a local hematologist BM biopsy showed hypocellular marrow, moderate myeloid hypoplasia and some dysmegakaryopoesis, no increased blasts. After a possible diagnosis of myelodysplasia was made, the patient did not go for further evaluations due to lack of medical insurance.
4 History & PE Hydroceletomy surgery right testis, 2012 Genital warts Migraine 2006 Meningitis 2015 Arthralgia, back pain and joint swelling Mother: Rheumatoid arthritis, lupus, Sister: Psoriasis, father: None
5 PB (2017) WBC 1.3K/uL ( ) Hgb 11.5gm/dL ( ) Platelet 184K/uL ( ) Neutrophil 52.0% Lymphocyte 44.8% Monocyte 2.4% Eosinophil 0.8% Neutrophil Abs 0.65K/uL L ( ) Lymphocyte Abs 0.56K/uL L ( ) Monocyte Abs 0.03K/uL L ( ) Eosinophil
6 Bone Marrow osteoclast-like megs CD61
7 BMA
8 SSC-A CD123 APC-A HLA-DR CD34 PerCP-Cy5-5-A SSC-A CD123 APC-A HLA-DR FITC-A CD34 PerCP-Cy5-5-A The patient % Blast 01= 1.41% 1.45% % 97.30% 0.98% % % % % CD34 PerCP-Cy5-5-A 0.82% % HLA-DR FITC-A pdc 18.38% % HLADR= CD10 PE-Cy7-A Normal control 10 5 Hematogones 74.23% 24.43% % 10 5 MFI= CD117 PE-A 67.41% % CD34 PerCP-Cy5-5-A % HLA-DR FITC-A 79.97% HLADR= CD MFI= CD117 PE-A
9 SSC-A SSC-A Our Patient 63 year old woman Mono= 4.7% Mono= 0.6% CD64 PE-A CD64 PE-A
10 SSC LAM PE-A The Patient CD19 gate= 1.7% CD KAP FITC-A
11 CD56 PE-A CD57 FITC-A SSC-A CD3 PE-Cy7-A CD3 PE-Cy7-A 54.98% 45.02% 48.34% 51.66% % % CD3= 30.0% % CD4 PerCP-Cy5-5-A 14.74% 3.83% CD8 APC-A CD3 PE-Cy7-A 3.87% 10 5 NK cells CD3 PE-Cy7-A CD8 APC-A
12 Ancillary tests Karyotype: 46,XY FISH: trisomy 8 in 6% of analyzed cells Negative for -7/7q, del5q or 17p
13 The most likely diagnosis is A: Aplastic anemia B: Severe congenital neutropenia C: Primary immune deficiency associated cytopenia D: Myelodysplastic syndrome E: Familial MDS (myeloid neoplasms with germline predisposition)
14 VAF: 49%
15 Diagnosis Myelodysplastic syndrome with multilineage dysplatia associated with GATA2 mutation (GATA2 deficiency)
16 What s next What test should be done next? Skin fibroblasts to test for germline GATA2 mutation Bucal swap to test for germline GATA2 mutation Screen family members for GATA2 mutation, and possible SCT donor Search for matched unrelated SCT donor
17 Skin Punch biopsy p.arg396trp (CGG>TGG): c.1186 C>T in exon 6 of the GATA2 gene Missense mutation
18 Diagnosis Myelodysplastic syndrome with multilineage dysplatia associated with germline GATA2 mutation (GATA2 deficiency) SCT planned for December 2018
19 GATA2 is essential for Hematopoiesis Transcription Factor on 3q21 GATA2 is expressed in hematopoietic and nonhematopoietic embryonic stem cells bind the DNA sequence (A/T)GATA(A/G) through two zinc finger (ZnF) domains Crit Rev Oncol Hematol Apr;82(1):1-17.
20 2011
21 PAP: Pulmonary alveolar proteinosis NTM: non-tb type mycobacterial infection MonoMAC syndrome Modified from Hsu AP, et al. GATA2 deficiency. Curr Opin Allergy Clin Immunol Feb;15(1):104-9.
22 GATA2 mutations Null Regulator Missense Credit: NIAID
23 Mechanisms Deletions, missense, nonsense, frameshift, splice site changes Most occur in the 2 zinc fingers, leading to a nonfunctional protein unable to bind DNA or other TF partners. Intronic regulatory elements (intron 5 enhancer lead to reduced transcription of the cis allele)
24 Clinical features of GATA2 deficiency Stroke and Thrombosis Infection HPV EBV MAC Lymphedema, Hearing loss (Emberger syndrome) Pulmonary alveolar proteinosis Autoimmune hepatitis Rheumatologic symptoms: erythema nodosum, panniculitis, or arthralgias Miscarriage/preterm labor Autism Cytopenia (MDS/AML) Modified from Michael A. Spinner et al. Blood 2014;123:
25 Clinical, pathologic, and Imaging of GATA2 deficiency. mycobacteria infection PAP alveolar space with lipoproteinaceous Panniculitis/EN Brain infarct EBV+ spindle cell lesion Michael A. Spinner et al. Blood 2014;123:
26 GATA2 deficiency in Pediatric MDS Associated with -7 (41% ), trisomy 8 (15%), and trisomy 1q. GATA2 deficiency accounts for 7% of primary pediatric MDS and 15% of children with advanced MDS In pediatric patients with MDS and -7, 37% have germline GATA2 mutations In adolescents with MDS and -7, 72% have germline GATA2 mutations GATA2 deficiency likely the most common underlying genetic defect predisposing to pediatric MDS.
27 Associated mutations Myeloid neoplasms (MNs) of any type eventually develop in up to 75% of patients (MDS, AML, CMML, rarely ALL) Average age of onset for MNs is 12 to 35 years old, median: 19.7 year SETBP1, ASXL1, STAG2, RUNX1, CBL, EZH2, NRAS, JAK3, and PTPN11 CMML with ASXL1
28 Key features Typical onset in early adulthood, variable presentation Cytopenias of monocytes, B cells, and NK cells, Unusual infection: disseminated non-tuberculous mycobacterial (NTM) and other opportunistic infections (HPV) A high risk of developing MDS and AML Poor survival once MDS/AML arises Allogeneic stem cell transplantation (allo-sct)
29 Diagnostic Clues Peripheral blood Dendritic cell, NK, B-Cell cytopenia Monocytopenia Neutropenia Bone marrow Hypocellular for age Megakaryocytic atypia/dysplasia Flow cytometry: absence or very few monocytes, B-cell precursors, B-cells, dendritic cells, NK-cells; inverted CD4:CD8 ratios
30
31 Types of inherited cytopenia Type Genetics Mechanism Fanconi anemia AR DNA repair Dykeratosis congenita XL, AD, AR Telomere maintenance Shhwachman-Diamond syndrome Diamond-Blackfan anemia Congenital dyserythropietic anemia AR AD, or XL in GATA1 related AR (I and II, AD (IIIand IV) Risosomal assembly Risosomal biogenesis Unfolded protein response TF Severe congenital neutropenia ELANE mutation Familial platelet disorder with myeloid malignancy RUNX1 AD AD Unfolded protein response HSC diff GATA2 deficiency AD HSC diff
32 Take home message GATA2 deficiency has a broad spectrum of phenotype including MonoMAC, MDS/AML, pulmonary disease and vascular/lymphatic dysfunction Diagnostic clues include cytopenia (monopenia, lack of HG), hypocellular marrow and dysmegs Early screening and family counseling are essential SCT is curative
Case 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 informationMild Megakaryocyte Atypia in a Patient with Presumed Germline GATA2 Mutation, and Active Mycobacterial Infection.
CASE TYPE: GERMLINE MUTATIONS OR FAMILIAL SYNDROMES PREDISPOSING TO MYELOID OR LYMPHOID NEOPLASMS. Mild Megakaryocyte Atypia in a Patient with Presumed Germline GATA2 Mutation, and Active Mycobacterial
More informationMeanings of the Word Gata
Meanings of the Word Gata English Armenian Pastry Catalan female cat Fijian snake Hiligaynon coconut milk Icelandic street (noun), to pierce (verb) Norwegian gate Portuguese female cat, very beautiful
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 informationCHALLENGING CASES PRESENTATION
CHALLENGING CASES PRESENTATION Michael C. Wiemann, MD, FACP Program Co-Chair and Vice President Indy Hematology Education President, Clinical St. John Providence Physician Network Detroit, Michigan 36
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 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 informationCase Workshop of Society for Hematopathology and European Association for Haematopathology
Case 148 2007 Workshop of Society for Hematopathology and European Association for Haematopathology Robert P Hasserjian Department of Pathology Massachusetts General Hospital Boston, MA Clinical history
More informationMyelodysplastic Syndrome Case 158
Myelodysplastic Syndrome Case 158 Dong Chen MD PhD Division of Hematopathology Mayo Clinic Clinical History 86 year old man Persistent borderline anemia and thrombocytopenia. His past medical history was
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 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 informationMyelodysplasia/Myeloproliferative Neoplasms (MDS/MPN) Post-HCT Data
Instructions for Myelodysplasia/Myeloproliferative Neoplasms (MDS/MPN) Post-HCT Data (Form 2114) This section of the CIBMTR Forms Instruction Manual is intended to be a resource for completing the Myelodysplasia/Myeloproliferative
More informationMDS 101. What is bone marrow? Myelodysplastic Syndrome: Let s build a definition. Dysplastic? Syndrome? 5/22/2014. What does bone marrow do?
101 May 17, 2014 Myelodysplastic Syndrome: Let s build a definition Myelo bone marrow Gail J. Roboz, M.D. Director, Leukemia Program Associate Professor of Medicine What is bone marrow? What does bone
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 information7/13/2017. PreventionGenetics. How are genes associated with bone marrow failure?
Personalized Medicine: tic Testing and the Implications for Future Therapies Preventiontics Michael Chicka, PhD, Molecular ticist, Preventiontics Founded in 2004 in Marshfield Wisconsin by Dr. Jim Weber
More informationUKGTN Testing Criteria
UKGTN Testing Criteria Test name: Inherited Bone Marrow Failure Syndromes 44 Gene Panel Approved name disorder/(s): See Appendix 1 Approved name (s): See Appendix 1 (s): (s): Patient name: Patient postcode:
More informationTable 1: biological tests in SMD
Table 1: biological tests in SMD Tests Mandatory Recommended Under validation Morphology Marrow aspirate Marrow biopsy 1 Iron staining Quantification of dysplasia WHO 2008 Classification Cytogenetics Conventional
More information2007 Workshop of SH/EAHP. Session 5 Therapy-related myeloid neoplasms
2007 Workshop of SH/EAHP Session 5 Therapy-related myeloid neoplasms Classification: Key issues MDS vs. AML-M6 MDS vs. MDS/MPD Genetically defined entities Relevance of morphologic classification Clinical
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 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 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 informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Submitting laboratory: Bristol RGC 1. Disorder/condition approved name and symbol as published on the OMIM database (alternative
More informationThe function of the bone marrow. Living with Aplastic Anemia. A Case Study - I. Hypocellular bone marrow failure 5/14/2018
The function of the bone marrow Larry D. Cripe, MD Indiana University Simon Cancer Center Bone Marrow Stem Cells Mature into Blood Cells Mature Blood Cells and Health Type Function Term Red Cells Carry
More informationGenetic Predisposition Syndromes in Myeloid Malignancies
Genetic Predisposition Syndromes in Myeloid Malignancies Lucy A. Godley, M.D., Ph.D. Section of Hematology/Oncology Departments of Medicine and Human Genetics The University of Chicago My patients and
More informationCASE 106. Pancytopenia in the setting of marrow hypoplasia, a PNH clone, and a DNMT3A mutation
CASE 106 Pancytopenia in the setting of marrow hypoplasia, a PNH clone, and a DNMT3A mutation Gabriel C. Caponetti, MD University of Pennsylvania, US Clinical history 69, F peripheral neuropathy, refractory
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 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 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 informationLet s Look at Our Blood
Let s Look at Our Blood Casey O Connell, MD Associate Professor of Clinical Medicine Jane Anne Nohl Division of Hematology Keck School of Medicine of USC 10,000,000,000 WBCs/day Bone Marrow: The Blood
More informationOverview of Aplastic Anemia. Overview of Aplastic Anemia. Epidemiology of aplastic anemia. Normal hematopoiesis 10/6/2017
Overview of Aplastic Anemia Overview of Aplastic Anemia Peter Westervelt, MD, PhD Professor of Medicine Chief, BMT/Leukemia Section Washington University School of Medicine Epidemiology Normal hematopoiesis
More informationMyeloproliferative Disorders - D Savage - 9 Jan 2002
Disease Usual phenotype acute leukemia precursor chronic leukemia low grade lymphoma myeloma differentiated Total WBC > 60 leukemoid reaction acute leukemia Blast Pro Myel Meta Band Seg Lymph 0 0 0 2
More informationAplastic Anemia: Understanding your Disease and Treatment Options
Aplastic Anemia: Understanding your Disease and Treatment Options No financial relationships or commercial interest related to the content of this presentation Josh Sasine, MD, PhD Hematopoietic Cell Transplant
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: Everyday Challenges and Pitfalls
Myelodysplastic Syndromes: Everyday Challenges and Pitfalls Kathryn Foucar, MD kfoucar@salud.unm.edu Henry Moon lecture May 2007 Outline Definition Conceptual overview; pathophysiologic mechanisms Incidence,
More informationOutline. What is aplastic anemia? 9/19/2012. Aplastic Anemia Current Thinking on the Disease, Diagnosis, and Non-Transplant Treatment Options
Aplastic Anemia Current Thinking on the Disease, Diagnosis, and Non-Transplant Treatment Options Carlos M. de Castro, MD Duke University Medical Center Outline What is Aplastic Anemia? What other diseases
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 informationMYELODYSPLASTIC SYNDROMES: A diagnosis often missed
MYELODYSPLASTIC SYNDROMES: A diagnosis often missed D R. EMMA W YPKEMA C O N S U LTA N T H A E M AT O L O G I S T L A N C E T L A B O R AT O R I E S THE MYELODYSPLASTIC SYNDROMES DEFINITION The Myelodysplastic
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 informationOrdering Physician CLIENT,CLIENT. Collected REVISED REPORT
HPWET Hematopathology Consultation, MML Embed Client Hematopathology Consult REVISED INAL DIAGNOSIS Interpretation Peripheral blood, bone marrow aspirate and biopsies, bilateral iliac crests: 1. Normocellular
More informationHematology 101. Blanche P Alter, MD, MPH, FAAP Clinical Genetics Branch Division of Cancer Epidemiology and Genetics Bethesda, MD
Hematology 101 Blanche P Alter, MD, MPH, FAAP Clinical Genetics Branch Division of Cancer Epidemiology and Genetics Bethesda, MD Hematocrits Plasma White cells Red cells Normal, Hemorrhage, IDA, Leukemia,
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 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 informationa resource for physicians Recommended Referral Timing for Stem Cell Transplant Evaluation
a resource for physicians Recommended Referral Timing for Stem Cell Transplant Evaluation This resource has been developed to help guide you regarding the appropriate timing and conditions for a referral
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 informationCLINICAL USE OF CELLULAR SUBPOPULATION ANALYSIS IN BM
CLINICAL USE OF CELLULAR SUBPOPULATION ANALYSIS IN BM CANCER RESEARCH CENTRE, UNIVERSITY AND UNIVERSITY HOSPITAL OF SALAMANCA (SPAIN)( Sao Paulo, 18th of April, 2009 IDENTIFICATION OF HPC (I) 1.- In vivo
More informationAllogeneic Hematopoietic Stem-Cell Transplantation for Myelodysplastic Syndromes and Myeloproliferative Neoplasms. Policy Specific Section:
Medical Policy Allogeneic Hematopoietic Stem-Cell Transplantation for Myelodysplastic Syndromes and Myeloproliferative Type: Medical Necessity and Investigational / Experimental Policy Specific Section:
More informationSomatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency
REGULAR ARTICLE Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency Kevin E. Fisher, 1,2 Amy P. Hsu, 3 Christopher L. Williams, 2 Hadi
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 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 informationMyelodysplastic syndromes: revised WHO classification and distinction from non-neoplastic conditions
Myelodysplastic syndromes: revised WHO classification and distinction from non-neoplastic conditions Robert P Hasserjian, MD Associate Professor Massachusetts General Hospital and Harvard Medical School
More informationMYELODYSPLASTIC SYNDROMES
MYELODYSPLASTIC SYNDROMES Babak Tamizi Far MD. Assistant professor of internal medicine Al-zahra university hospital, Isfahan university of medical sciences Key Features ESSENTIALS OF DIAGNOSIS Cytopenias
More informationCase Workshop of Society for Hematopathology and European Association for Haematopathology
Case 24 2007 Workshop of Society for Hematopathology and European Association for Haematopathology Aliyah Rahemtullah 1, Martin K Selig 1, Paola Dal Cin 2 and Robert P Hasserjian 1 Departments of Pathology,
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 informationCan somatic GATA2 mutation mimic germ line GATA2 mutation?
EXCEPTIONAL CASE REPORT Can somatic mutation mimic germ line mutation? Mallika Sekhar, 1,2 Rachael Pocock, 3 David Lowe, 4 Christopher Mitchell, 3 Teresa Marafioti, 5 Rachel Dickinson, 6 Matthew Collin,
More informationAdult Acute leukemia. Matthew Seftel. August
Adult Acute leukemia Matthew Seftel August 21 2007 mseftel@cancercare.mb.ca Principles 3 cases Diagnosis and classification of acute leukemia (AL) Therapy Emergencies Remission induction BMT Complications
More informationEtiology. Definition MYELODYSPLASTIC SYNDROMES. De novo. Secondary MDS (10 years earlier than primary) transformation
MYELODYSPLASTIC SYNDROMES Rashmi Kanagal-Shamanna, MD Assistant Professor Hematopathology & Molecular Diagnostics The University of Texas M.D. Anderson Cancer Center Houston, Texas No relevant COIs to
More informationTherapy-related MDS/AML with KMT2A (MLL) Rearrangement Following Therapy for APL Case 0328
Therapy-related MDS/AML with KMT2A (MLL) Rearrangement Following Therapy for APL Case 0328 Kenneth N. Holder, Leslie J. Greebon, Gopalrao Velagaleti, Hongxin Fan, Russell A. Higgins Initial Case: Clinical
More informationRecommended Timing for Transplant Consultation
REFERRAL GUIDELINES Recommended Timing for Transplant Consultation Published jointly by the National Marrow Donor Program /Be The Match and the American Society for Blood and Marrow Transplantation BeTheMatchClinical.org
More informationAcute myeloid leukemia: prognosis and treatment. Dimitri A. Breems, MD, PhD Internist-Hematoloog Ziekenhuis Netwerk Antwerpen Campus Stuivenberg
Acute myeloid leukemia: prognosis and treatment Dimitri A. Breems, MD, PhD Internist-Hematoloog Ziekenhuis Netwerk Antwerpen Campus Stuivenberg Patient Female, 39 years History: hypothyroidism Present:
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 information12 Dynamic Interactions between Hematopoietic Stem and Progenitor Cells and the Bone Marrow: Current Biology of Stem Cell Homing and Mobilization
Table of Contents: PART I: Molecular and Cellular Basis of Hematology 1 Anatomy and Pathophysiology of the Gene 2 Genomic Approaches to Hematology 3 Regulation of Gene Expression, Transcription, Splicing,
More informationHematopoietic Cell Transplantation in Bone Marrow Failure Syndromes
Hematopoietic Cell Transplantation in Bone Marrow Failure Syndromes The The 44 th th WBMT WBMT SYMPOSIUM 2017 2017 Riyadh, Saudi Saudi Arabia Arabia Mouhab Mouhab Ayas, Ayas, MD MD Department of Pediatric
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 informationAplastic Anemia. is a bone marrow failure disease 9/19/2017. What you need to know about. The 4 major components of blood
What you need to know about Aplastic Anemia Stuart Goldberg MD Aplastic Anemia is a bone marrow failure disease The bone marrow is the factory that makes blood The 4 major components of blood Red Blood
More informationBor-Sheng Ko. Hematology Division, Department of Internal Medicine, National Taiwan University Hospital
Bor-Sheng Ko Hematology Division, Department of Internal Medicine, National Taiwan University Hospital On behalf of Members of Aplastic Anemia Consensus Meeting Diagnosis and classification: Treatment
More informationAplastic Anemia & MDS International Foundation Talk. Definition. Introduction 4/20/2012. April 2012 H. Phillip Koeffler, M.D.
Aplastic Anemia & MDS International Foundation Talk April 2012 H. Phillip Koeffler, M.D. Definition Myelo Greek prefix; marrow Dysplasia abnormal morphology Can affect: RBCs WBCs Plts Introduction 1949:
More informationRUNX1 and FPD/AML Translational Research. The Leukemia and Lymphoma Society / Babich Family Foundation Partnership. September 2016
www.lls.org www.runx1.com RUNX1 and FPD/AML Translational Research The Leukemia and Lymphoma Society / Babich Family Foundation Partnership September 2016 Prepared by L. Greenberger, PhD Chief Scientific
More information3/31/2014. New Directions in Aplastic Anemia Treatment: What s on the Horizon? Objectives
New Directions in Aplastic Anemia Treatment: What s on the Horizon? AA & MDS International Foundation Living with, MDS, or PNH Patient and Family Conferences in 2014 April 5, 2014 Objectives To provide
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 informationMDS: Who gets it and how is it diagnosed?
MDS: Who gets it and how is it diagnosed? October 16, 2010 Gail J. Roboz, M.D. Director, Leukemia Program Associate Professor of Medicine Weill Medical College of Cornell University The New York Presbyterian
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 informationCancer Epidemiology. Blanche P Alter, MD, MPH, FAAP Clinical Genetics Branch Division of Cancer Epidemiology and Genetics Bethesda, MD
Cancer Epidemiology Blanche P Alter, MD, MPH, FAAP Clinical Genetics Branch Division of Cancer Epidemiology and Genetics Bethesda, MD Fanconi Anemia Adults, February 2011 Outline Epidemiology FA Literature
More informationCorrespondence should be addressed to Anas Khanfar;
Case Reports in Oncological Medicine, Article ID 949515, 4 pages http://dx.doi.org/10.1155/2014/949515 Case Report Durable Hematological and Major Cytogenetic Response in a Patient with Isolated 20q Deletion
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 informationBorder between aplastic anemia and myelodysplastic syndrome
Int J Hematol (2013) 97:558 563 DOI 10.1007/s12185-013-1324-x PROGRESS IN HEMATOLOGY Advances in the management of acquired aplastic anemia (AA) Border between aplastic anemia and myelodysplastic syndrome
More informationBlood 101 Introduction Blood and Marrow & Overview of Bone Marrow Failure Diseases. Dr. M. Sabloff October 16 th 2010
Blood 101 Introduction Blood and Marrow & Overview of Bone Marrow Failure Diseases Dr. M. Sabloff October 16 th 2010 Normal Marrow knee joint white is articular cartilage Adjacent to this is the red marrow
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 informationMyelodysplastic syndrome. Jeanne Palmer, MD Mayo Clinic, Arizona
Myelodysplastic syndrome Jeanne Palmer, MD Mayo Clinic, Arizona What is Myelodysplastic syndrome? A disease where the bone marrow doesn t work appropriately What does that mean?? Red blood cells Carry
More informationMyelodysplastic scoring system with flow cytometry. G Detry B Husson
Myelodysplastic scoring system with flow cytometry G Detry B Husson Myelodysplastic syndroms Clonal haematopoietic stem cell disease characterized by dysplasia in one or more of the myeloid cell lines
More informationUnderstanding & Treating Myelodysplastic Syndrome (MDS)
Understanding & Treating Myelodysplastic Syndrome (MDS) Casey O Connell, MD Associate Professor of Clinical Medicine Jane Anne Nohl Division of Hematology Keck School of Medicine of USC Let s Look at Our
More informationPathology. #11 Acute Leukemias. Farah Banyhany. Dr. Sohaib Al- Khatib 23/2/16
35 Pathology #11 Acute Leukemias Farah Banyhany Dr. Sohaib Al- Khatib 23/2/16 1 Salam First of all, this tafreegh is NOT as long as you may think. If you just focus while studying this, everything will
More informationForm 2033 R3.0: Wiskott-Aldrich Syndrome Pre-HSCT Data
Key Fields Sequence Number: Date Received: - - CIBMTR Center Number: CIBMTR Recipient ID: Has this patient's data been previously reported to USIDNET? USIDNET ID: Today's Date: - - Date of HSCT for which
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 informationBeyond the CBC Report: Extended Laboratory Testing in the Evaluation for Hematologic Neoplasia Disclosure
Beyond the CBC Report: Extended Laboratory Testing in the Evaluation for Hematologic Neoplasia Disclosure I am receiving an honorarium from Sysmex for today s presentation. 1 Determining the Etiology for
More informationJeanne Palmer, MD Mayo Clinic, Arizona
Setting the stage for Transplant in MPN Jeanne Palmer, MD Mayo Clinic, Arizona What will be covered What is a bone marrow transplant? When to start thinking about bone marrow transplant Timing of transplant
More informationAplastic Anaemia Genomics: Current data and interpretation
An Academic Health Sciences Centre at the heart of a world city... Aplastic Anaemia Genomics: Current data and interpretation Austin G Kulasekararaj Consultant Haematologist King s College Hospital, London
More informationForm 2011 R4.0: Acute Lymphoblastic Leukemia (ALL) Pre-HCT Data
Key Fields Sequence Number: Date Received: - - CIBMTR Center Number: CIBMTR Recipient ID: Date of HCT for which this form is being completed: - - HCT type: (check all that apply) Autologous Allogeneic,
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 informationPlatelet and WBC disorders
Division of Family Practice Platelet and WBC disorders Adrian Yee MD FRCPC Clinical hematologist Assistant Dean, undergraduate education, IMP asyee@uvic.ca When we understand that slide, we'll have won
More informationmyelodysplastic syndrome MDS MDS MDS
myelodysplastic syndrome MDS MDS 15 10 3 2004 15 MDS 400 2 65 61 70 MDS MDS 1 1 2 3 3 4 1 4 2 3 4 MDS 1982 Bennett French- American-BritishFAB 1 2 WHO 1999 3 2001 4 2002 Vardiman MDS 5 2WHO FAB refractory
More informationReview of Aplastic Anemia Guidelines. Seiji Kojima MD. PhD.
Review of Aplastic Anemia Guidelines Seiji Kojima MD. PhD. Department of Pediatrics Nagoya University Graduate School of Medicine Chairman of the Severe Aplastic Anemia Working Party Asia-Pacific Blood
More informationsequences of a styx mutant reveals a T to A transversion in the donor splice site of intron 5
sfigure 1 Styx mutant mice recapitulate the phenotype of SHIP -/- mice. (A) Analysis of the genomic sequences of a styx mutant reveals a T to A transversion in the donor splice site of intron 5 (GTAAC
More informationUpdate on Clinically Relevant Genetic Alterations in AML and Recommendations for Molecular Testing
Update on Clinically Relevant Genetic Alterations in AML and Recommendations for Molecular Testing Amir Behdad, M.D. LoAnn C. Peterson, M.D. Feinberg Medical School, Northwestern University Chicago, Illinois
More informationMyelodysplastic Syndrome: Let s build a definition
1 MDS: Diagnosis and Treatment Update Gail J. Roboz, M.D. Director, Leukemia Program Associate Professor of Medicine Weill Medical College of Cornell University The New York Presbyterian Hospital Myelodysplastic
More informationWhat is MDS? Epidemiology, Diagnosis, Classification & Risk Stratification
What is MDS? Epidemiology, Diagnosis, Classification & Risk Stratification Rami Komrokji, MD Clinical Director Malignant Hematology Moffitt Cancer Center Normal Blood and Bone Marrow What is MDS Myelodysplastic
More informationAnemia (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 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 informationBMTCN Review Course Basic Concepts and Indications for Transplantation How the Experts Treat Hematologic Malignancies Las Vegas, NV, March 10, 2016
BMTCN Review Course Basic Concepts and Indications for Transplantation How the Experts Treat Hematologic Malignancies Las Vegas, NV, March 10, 2016 David Rice, PhD, RN, NP Director, Professional Practice
More informationVUmc Basispresentatie
Clinical diagnostic cytometry Gerrit J Schuurhuis Dept of Hematology VU University Medical Center Amsterdam, Netherlands Use of immunophenotyping at diagnosis to trace residual disease after therapy 1.
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 information