Chromosomal Mimicry in Hematologic Malignancies
Tuesday, February 25th, 202511:00am-12:00pm ETwww.acmgeducation.net
Course DescriptionDetection of structural variants (SVs) represents a critical component in the diagnostic evaluation and treatment of many hematologic malignancies. Whereas clinical SV testing mainly consists of traditional cytogenetic methodologies, technological innovations have led to alternative approaches with improved resolution. Using a plurality of molecular methodologies including targeted RNA-sequencing, Optical Genome Mapping (OGM) and Hi-C, we describe ‘chromosomal mimicry’ - a phenomenon in which chromosome morphology resembles a known SV but lacks the expected gene level rearrangement - as an infrequent but recurrent finding with the potential to confound clinical management. Our study highlights the need for assays with gene-level resolution in the diagnostic evaluation of hematologic malignancies.Target AudienceAll medical and healthcare professionals and researchers interested in understanding cancer genomic testing and somatic and germline variant interpretation methods. This series is presented as a collaboration between ClinGen Somatic, VICC, and ACMG consortia. AgendaPresentations followed by live Q&A. Learning ObjectivesAt the conclusion of this session, participants should be able to:
1. Describe multiple methods of structural variant detection2. Define chromosomal mimicry3. Explain why molecular characterization is important for patient management
Moderator:Gordana Raca, MD, PhD, FACMGDirector, Clinical Cytogenomics Laboratory, Center for Personalized MedicineProfessor of Clinical Pathology, Keck School of Medicine of USCChildren’s Hospital of Los Angeles
Adrian Dubuc, PhD, FACMGVice-Chair, Cytogenetics/Genomics Clinical ResearchDirector, Clinical Cytogenetics Laboratory Roswell Park Comprehensive Cancer Center
Valentina Nardi, MDAssociate Professor of Pathology – Massachusetts General Hospital
Amir T. Fathi, MDAssociate Professor of Medicine – Massachusetts General Hospital
Gabriela S. Hobbs, MDAssociate Professor of Medicine – Massachusetts General Hospital
Scott T. Ryall, PhDAssociate Pathologist – Brigham and Women’s Hospital Instructor in Pathology – Harvard Medical School
Melissa M. Zhao, MDClinical Fellow in Pathology – Brigham and Women’s Hospital
CME AMA PRA Category 1 CreditTM, & CME Other
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The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
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All of the relevant financial relationships listed for these individuals have been mitigated.
NAME
ROLE
RELATIONSHIP/ COMPANY
Planning Member
Presenter Panelist Moderator
Peer Reviewer
Beth Pitel, MS, CG(ASCP)
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Advisory Board: Qiagen, LLC
Adrian Dubuc, PhD, FACMG
Nothing to Disclose.
Valentina Nardi, MD