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2017 Workshop Cases

The 2017 SH/EAHP workshop on “Molecular Genetics of Hematopoietic Neoplasm” was held in Chicago. This workshop included over 50 case presentations, summaries of 350 submitted cases with consensus statements from the panel on the use of genetic testing, and 7 keynote lectures. The topics covered in this workshop included: “Germline predisposition syndromes”, “Genetic testing in diagnosis of lymphoid neoplasms, acute leukemias and myeloid neoplasms”, “Premalignant clonal proliferations”, and “Genetics revealing the biology of myeloid neoplasms, acute leukemias and lymphoid neoplasms”.

Welcome and introduction
Genetic Predisposition Syndromes In Myeloid Malignancies Lecture: Lucy Godley
Session 1: Germline Predisposition Syndromes    Thursday, 8:40 - 10:35 am
SH2017-0283 Dr. Rena Xian Familial AML with germline CEBPA mutation
SH2017-0039 Dr. Karen Chisholm MDS arising in a 13-year-old with RUNX1 familial platelet disorder
SH2017-0307 Dr. Chollada Curry Relapsed pediatric myelodysplastic syndrome with a germline GATA2 heterozygous deletion, monosomy 7, and somatic CRLF2 mutation
SH2017-0042 Dr. Craig Soderquist Myeloproliferative disorder, ET-like, associated with germline SH2B3 mutation
SH2017-0106 Dr. Sunita Park Familial Burkitt lymphoma reveals X-linked lymphoproliferative disease (XLP)
SH2017-0167 Dr. Chelsey Part Therapy-related Acute Myeloid Leukemia in a Patient with Li-Fraumeni Syndrome
SH2017-0275 Dr. Cecilia Young Mild Megakaryocyte Atypia in a Patient with Presumed Germline GATA2 Mutation, and Disseminated Mycobacterial Infection.
Session 1 Summary - Olga Weinberg
Fundamentals of Next Generation Sequencing: Technologies and Applications   Lecture: Eric Duncavage
Molecular Genetics of Small Mature B-Cell Lymphomas  Lecture: Elias Campo
Seattle Genetics Lunch Symposium: Lymphoma Pathogenesis as the Ultimate Diagnostic and Therapeutic Guidance
Session 2: Genetic Testing in Diagnosis of Lymphoid Neoplasms    Thursday, 1:30 - 3:25 pm
SH2017-0160 Dr. Todd. Williams Entire exome sequencing or high grade B cell lymphoma with BCL2 / MYC rearrangements reveals actionable mutations and antecedent follicular lymphoma
SH2017-0137 Dr. Katrin Huettl An Aggressive Burkitt-Like Lymphoma With 11q Aberration
SH2017-0341 Dr. Nidhi Aggarwal Large B-cell lymphoma with IRF4 rearrangement in a 63-year-old male
SH2017-0334 Dr. Pallavi Khattar t (14:18) negative follicular lymphoma (FL) with 1p36 deletion associated with in situ follicular neoplasia (ISFN) with t (14:18) translocation.
SH2017-0111 Dr. David Wu STAT3 mutated T-LGL, donor derived, post-cord transplant for T lymphoblastic leukemia
SH2017-0277 Dr. Caleb Ho Comprehensive Molecular Profiling of an ALK Negative, Anaplastic Large Cell Lymphoma with DUSP22 rearrangement
SH2017-0377 Dr. Philippe Gaulard Clonal evolution of a TET2 mutated-angioimmunoblastic T-cell lymphoma towards an EBV-associated TFH PTCL
Session 2 Summary
Fundamentals of Next-Generation Sequencing: Analysis and Interpretation  Lecture: Frank Kuo
Session3: Genetic Testing in Diagnosis of Acute Leukemias  Thursday, 4:15 - 6:10 pm
SH2017-0180 Dr. Keyur Patel Acute Myeloid Leukemia (Promyelocytic), with Novel IRF2BP2-RARA Fusion
SH2017-0281 Dr. James Bauer Acute myeloid leukemia with RUNX1 and several co-mutations
SH2017-0299 Dr. Ashley Bird De novo acute myeloid leukemia with BCR-ABL1
SH2017-0328 Dr. Kenneth Holder Therapy-related acute myeloid leukemia with monocytic differentiation and MLL gene rearrangement after treatment for acute promyelocytic leukemia
SH2017-0108 Dr. Emily Mason B lymphoblastic leukemia arising in a patient with a history of lymphoplasmacytic lymphoma
SH2017-0366 Dr. Marian Harris Pediatric B-ALL with iAMP21
SH2017-0343 Dr. Sarah Ondrejka Ph-like B-lymphoblastic leukemia, with a kinase-activating alteration
Session 3 Summary
Clinical Significance of Somatic Mutations in Hematologic Neoplasia  Lecture: Benjamin Ebert
Session 4: Genetic Testing in Diagnosis or Myeloid Neoplasms (Excluding Acute Leukemia) Friday, 8:30 - 10:25 am
SH2017-0124 Dr. John Goodlad A case of persistent neutrophilia: BCR-ABL negative
SH2017-0351 Dr. Madhu Menon Chronic myelomonocytic leukemia with molecular abnormalities
SH2017-0156 Dr. Jeffrey Craig Unmasking or Multiorgan Involvement by Systemic Mastocytosis
SH2017-0171 Dr. Shunyou Gong Juvenile myelomonocytic leukemia with competitor somatic KRAS and PTPN11 Mutations in A Child Harboring Germline ASXL1 Mutation
SH2017-0376 Dr. Magdalena Czader Myeloid neoplasm with PCM1-JAK2 presenting with hepatosplenomegaly
SH2017-0300 Dr. Geetha Jagannathan Chronic Eosinophilic Leukemia, NOS Diagnosed by Next Generation Sequencing
SH2017-0314 Dr. Habibe Kurt Blastic Plasmacytoid Dendritic Cell Neoplasm with TET2 and DNMT3A mutations
Session 4 Summary
Session 5: Pre-Malignant Clonal Proliferations    Friday, 10:45 am - 12:30 pm
SH2017-0269 Dr. Adam Wood Probable early myelodysplastic syndrome
SH2017-0050 Dr. Mary-Ann Thompson Arildsen Pancytopenia in a 38-year-old male: ICUS to CCUS to MDS
SH2017-0350 Dr. Vignesh Shanmugam Clonal Cytopenia or Undetermined Significance Progressing to ASXL1 and SF3B1 -mutated CMML-1 with Ring Sideroblasts
SH2017-0028 Dr. Anwar Rjoop Incidental myeloid sarcoma diagnosed in a patient with ASXL1 + lymphoplasmytic lymphoma
SH2017-0256 Dr. Saham Loghavi Incidental MYD88 p.L265P Mutation: a Clue to Competitor B-Cell Lymphoma in a Patient with Chronic Myelomonocytic Leukemia
SH2017-0332 Dr. Lena Stuart TP53 mutation in a patient with paroxysmal nocturnal hemoglobinuria
Session 5 Summary
Archer Diagnostics Lunch Symposium
Session 6: Genetics Revealing the Biology of Myeloid Neoplasms (Excluding Acute Leukemias)  Friday, 3:20 - 5:05 pm
SH2017-0068 Dr. Yahya Al-Ghamdi 46 year old male with CML in blast crisis with t (15; 17) and RARA gene rearrangement
SH2017-0244 Dr. Pawel Mroz Myelodysplastic syndrome (MDS) associated with primary mediastinal germ cell tumor
SH2017-0267 Dr. Larissa Liontos Myeloid neoplasm with morphological features of atypical CML and NPM1 mutation
SH2017-0207 Dr. Anna Nam Progression of a JAK2 V617F-Positive Essential Thrombocythemia (ET) to a JAK2- V617F-Negative Post-ET Myelofibrosis in Accelerated Phase
SH2017-0238 Dr. Leonardo Boiocchi Unexpected detection of SF3B1 mutation and ring pageoblasts in a JAK2 + pure myeloproliferative neoplasm
SH2017-0159 Dr. Natasha Lewis Myeloid neoplasm with del (5q) and SF3B1 and MPL gene mutations
Session 6 Summary

Therapy-Related Myeloid Neoplasms: When Genetics and Environment Collide          Lecture: Megan McNerney

Session 7: Genetics Revealing the Biology of Acute Leukemias    Saturday, 8:30 - 10:15 am
SH2017-0057 Dr. Jason Aynardi Acute Myeloid Leukemia with JAK2 V617F Mutation
SH2017-0094 Dr. Jessica Snider NUP214-ABL1 fusion: A novel discovery in acute myelomonocytic leukemia
SH2017-0144 Dr. Siddharth Bhattacharyya Differentiated response to FLT3 inhibition (Quizartinib / AC220) in acute myeloid leukemia is affected by baseline molecular genetics and cytogenetics
SH2017-0119 Dr. Sarah Choi A 22-year-old male with a Ph-like mixed phenotype acute leukemia (B / myeloid)
SH2017-0148 Dr. Madhu Ouseph AML with myelodysplasia-related changes and cryptic t (8; 16) (p11; p13); KAT6A / CREBBP
SH2017-0203 Dr. Rebecca Leeman-Neill Acute leukemia or ambiguous lineage in a pediatric patient with a NUP98-NSD1 rearrangement
Session 7 Summary

Novel Insights into the Molecular Pathogenesis of T-cell Lymphomas Lecture:  Kojo Elenitoba-Johnson

Session 8: Genetics Revealing the Biology of Lymphoid Neoplasms    Saturday, 11:05 am - 12:50 pm
SH2017-0086 Dr. Leticia Quintanilla-Fend Leukemic non-nodal MCL with complex karyotype and TP53 deletion and mutation with rather indolent clinical behavior.
SH2017-0327 Dr. Rohit Gulati Leukemic non-nodal MCL with complex karyotype and TP53 deletion and mutation with rather indolent clinical behavior
SH2017-0338 Dr. Andrew Evans IGH sequencing distinguishes multiple EBV + mucocutaneous ulcers from recurrent malignant diffuse large B cell lymphoma
SH2017-0359 Dr. Shiraz Fidai Progression of CLL with two Richter transformations associated with two different MYC rearrangements
SH2017-0210 Dr. Jonathon Gralewski Myeloid Sarcoma with Monocytic Differentiation and IGH-MAF Gene Reaction
SH2017-0035 Dr. Mariusz Wasik Mantle cell lymphoma trans-differentiated into poorly differentiated sarcoma with evidence of muscle and neutral differentiation
Session 8 Summary
Wrokshop Concluding remarks