Thursday, November 16, 2017


7:00am - 8:00am


Molecular Diagnostics for Biomarker-Driven Clinical Trials

The Challenges of Development and Application of the NCI-MATCH NGS Assay

P. Mickey Williams, PhD, Frederick National Labs, Frederick, MD, USA

Pediatric Clinical Trial Networks, Pathologist's Perspective
Marian H. Harris, MD, PhD, Boston Children's Hospital, Boston, MA, USA

Applications of Multiplex Molecular Imaging in Cancer

High Dimensional Imaging of Tumor Immune Infiltrates Using MIBI
Michael Angelo, MD, PhD, Stanford University, Palo Alto, CA, USA

8:30am - 9:45am

AMP Award for Excellence in Molecular Diagnostics: Presentation and Lecture

The Epigenetic Basis of Common Human Disease
Andrew P. Feinberg, MD, MPH, Johns Hopkins University School of Medicine, Whiting School of Engineering, and Bloomberg School of Public Health, Baltimore MD, USA

10:15am - 11:45am


Molecular Genetics and Biomarkers of B-cell Leukemias and Lymphomas

Precursor B-cell Neoplasms (ALL)
Charles G. Mullighan, MBBS (Hons), MSc, MD, St. Jude Children's Research Hospital, Memphis, TN, USA

Genetic and Epigenetic Drivers of Diffuse Large B Cell Lymphoma
Laura Pasqualucci, MD, Columbia University Medical Center, New York, NY, USA

1:00pm - 2:30pm


MRD Assessment in Acute Leukemias

A Clinical Trial to Improve Risk Assessment in Acute Myeloid Leukemia that Uses Enhanced Exome Sequencing to Detect Leukemia Clearance Following Therapy
David H. Spencer, MD, PhD, Washington University School of Medicine, St. Louis, MO, USA

Next-generation Sequencing for Detecting MRD in Acute Lymphoblastic Leukemia

David Wu, MD, PhD, University of Washington, Seattle, WA, USA

Discovering the Links: Infectious Agents and Cancer

HPV and Head and Neck Cancer
Joseph A. Califano, MD, University of California, San Diego, CA, USA

Blood-based Assessment of EBV DNA as a Tumor Marker
Jennifer A. Kanakry, MD, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

Bioinformatic Frontiers: Dissecting the Genetics of Cancer

Computational Dissection of Intra-tumor Genetic Heterogeneity and Applications to the Study of Cancer Treatment, Evolution, and Metastasis

Scott L. Carter, PhD, Dana-Farber Cancer Institute, Boston, MA, USA

Strategies and Challenges for Somatic Mutation Detection by Next-gen Sequencing
Daniel C. Koboldt, MSc, Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA


Friday, November 17, 2017


7:00am - 8:00am


Case Studies in Solid Tumors

A Case of MSI-high Colorectal Cancer Responsive to Checkpoint Blockade Immunotherapy after Progression to Metastatic Disease
Maryam Shirazi, MD, Columbia University Medical Center, New York, NY, USA

RBM10-TFE3: A Potential Diagnostic Pitfall Due to Cryptic Intrachromosomal Xp11.2 Inversion Resulting in False-negative TFE3 FISH Renal Cell Carcinoma
Deepu Alex, MD, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

Not So Ancillary: A Case of Correction of Primary Diagnosis with Molecular Studies
Adam Wilberger, MD, University of Colorado Hospital, Aurora, CO, USA

Mutation Signature as a Diagnostic Clue in Lung Carcinoma
Navin Mahadevan, MD, PhD, Brigham and Women's Hospital, Boston, MA, USA


10:45am - 11:45am


Platform Presentations of Selected Abstracts

Abstracts are selected by the Program Committee

Platform Presentations of Selected Hematopathology Abstracts

H28 - Haplotype Counting for Sensitive AML Relapse Detection
Marija Debeljak, BSc, Johns Hopkins University, Baltimore, MD, USA

H60 - Comparison of Clinical Digital Karyotyping by Comprehensive Next Generation Sequencing with Standard Cytogenetic Analysis in Pediatric Leukemia
Elizabeth M. Azzato, MD, PhD, St. Jude Children's Research Hospital, Memphis, TN, USA

H68 - Diagnostic Yield of Somatic Mutation Detection in Hematologic Malignancies Does Not Increase with Additional Mutation Analysis, and Supports More Focused Disease-specific Testing Models
Szabolcs Szelinger, PhD, University of California, Los Angeles, CA, USA

H34 - Implementation Considerations: Designing and Medically Vetting a Targeted Gene Panel for Hematologic Malignancies
Michelle Grant, DO, University of Vermont Medical Center, Burlington, VT, USA

Platform Presentations of Selected Solid Tumors Abstracts

ST52 - Clinical Cancer Whole Exome and Transcriptome Sequencing of Pediatric Tumors at Columbia University Medical Center: Laboratory Perspective at Three Years
Susan J. Hsiao, MD, PhD, Columbia University Medical Center, New York City, NY, USA

ST56 - Clinical Utility of Large Scale Genomic Sequencing of Solid Tumors at a Large Academic Medical Center
Noah A. Brown, MD, University of Michigan, Ann Arbor, MI, USA

ST114 - Identification of Germline Variants in Tumor Genomic Sequencing Assays: Usefulness of Variant Allele Fraction and Population Variant Databases
Nathan D. Montgomery, MD, PhD, University of North Carolina, Chapel Hill, NC, USA

ST62 - Integrated Molecular Diagnostic Call Criteria for MET Exon 14 Skipping in Lung Cancer
Ryan J. Schmidt, MD, PhD, Harvard Medical School, Boston, MA, USA

1:00pm - 2:30pm


High Impact Molecular Diagnostics for Cancer and Inherited Diseases

Solid Tumor Genotyping: Technical and Clinical Validation with a Focus on Fusions
A. John Iafrate, MD, PhD, Massachusetts General Hospital, Boston, MA, USA

Intersection of Germline and Somatic Cancer Variants and New Areas of Clinical Utility
Colin C. Pritchard, MD, PhD, University of Washington, Seattle, WA, USA

3:30pm - 5:00pm


Genome Evolution and Therapy Resistance in Lymphoid and Myeloid Neoplasms

Correlation of AML and MDS Mutation Burdens and Response to Decitabine in the Peripheral Blood and Bone Marrow
John S. Welch, MD, PhD, Washington University School of Medicine, St. Louis, MO, USA

Dynamic Monitoring of Lymphoma Genome Evolution
Ash A. Alizadeh, MD, PhD, Stanford University School of Medicine, Stanford, CA, USA



Saturday, November 18, 2017


7:00am - 8:00am


Molecular Pathology of Pancreatic Neoplasms

Molecular Diagnostic Testing for the Detection of Early Pancreatobiliary Neoplasms
Aatur Singhi, MD, PhD, University of Pittsburgh Medical Center Presbyterian, Pittsburgh, PA, USA

Case Studies in Hemepath and Informatics

Inv(16) Incidentally Detected by Leukemia Translocation Panel Screen in a Patient with Therapy-related Acute Myeloid Leukemia
Andres E. Quesada, MD, The University of Texas M.D. Anderson Cancer Center, Houston, TX, USA

A Confounding Case of Polycythemia Vera
Aaron Atkinson, PhD, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA

Identifying Patients at Risk for Myelodysplastic Syndrome through Next Generation Sequencing of Cytopenias with Equivocal or Absent Morphologic Dysplasia
Patrick Mann, MD, Washington University, St. Louis, MO, USA

Detection of the Controversial ASXL1 c.1934dupG (p.G646Wfs*12) Insertion Variant From Targeted Next-generation Sequencing (NGS) Data
Michael Alberti, MD, PhD, Washington University, St. Louis, MO, USA

10:45am - 12:15pm


Whole Exome Sequencing in Clinical Practice

Development and Validation of a Whole-exome Sequencing Test for Simultaneous Detection of Point Mutations, Indels and Copy-number Alterations for Precision Cancer Care
Oliver Elemento, PhD, Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA
Integrated Genomic Profile Using Clinical Whole Genome and Transcriptome Sequencing to Enable Precision Oncology
Vaidehi Jobanputra, PhD, New York Genome Center, New York, NY, USA

Review and Implementation of New AMP Guidelines on NGS Somatic Variant Test Validation, Interpretation, and Reporting
(Sponsored by the Clinical Practice Committee)

AMP/CAP Guidelines for Validation of Next-Generation Sequencing–Based Oncology Panels
Lawrence J. Jennings, MD, PhD, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA
AMP/ASCO/CAP Standards and Guidelines of Somatic Variant Interpretation and Reporting
Marilyn M. Li, MD, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Implementation of NGS Somatic Variant Guidelines into Clinical Practice
Marina N. Nikiforova, MD, University of Pittsburgh Medical Center, Pittsburgh, PA, USA

3:15pm - 4:45pm


Role of Genome Editing in Research and Therapy

Genome Editing with CRISPR-Cas Nucleases
J. Keith Joung, MD, PhD, Massachusetts General Hospital, Charlestown, MA, USA

Accelerating Prediction of Tumor Vulnerabilities Using Next-generation Cancer Models
Jesse S. Boehm, PhD, Broad Institute, Cambridge, MA, USA