
Date of Release: February 3, 2025
Expiration Date: February 3, 2027
Credits offered: CME
Estimate time of completion: 1 hour
Chromosomal Mimicry in Hematologic Malignancies
Description
Detection 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 Audience
All 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.
Learning Objectives
At the conclusion of this session, participants should be able to:
- Describe multiple methods of structural variant detection
- Define chromosomal mimicry
- Explain why molecular characterization is important for patient management
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Beth Pitel, MS
Clinical Variant Scientist – Oncology
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic
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Adrian Dubuc, PhD, FACMG Vice-Chair, Cytogenetics/Genomics Clinical Research Director, Clinical Cytogenetics Laboratory Roswell Park Comprehensive Cancer Center
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Valentina Nardi, MD Associate Professor of Pathology – Massachusetts General Hospital
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Amir T. Fathi, MD Associate Professor of Medicine – Massachusetts General Hospital
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Gabriela S. Hobbs, MD Associate Professor of Medicine – Massachusetts General Hospital
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Scott T. Ryall, PhD Associate Pathologist – Brigham and Women’s Hospital Instructor in Pathology – Harvard Medical School
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Melissa M. Zhao, MD Clinical Fellow in Pathology – Brigham and Women’s Hospital
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Planning Committee:
Beth Pitel, MS, CG(ASCP)
Gordana Raca, MD, PhD, FACMG
Manuela Benary, PhD
Jason Saliba, PhD
Jane Radford, MHA, CHCP
Claudia Barnett
Accredited Continuing Education Information
CME AMA PRA Category 1 CreditTM
Accreditation
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.
Credit Designation
The American College of Medical Genetics and Genomics designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
The American Medical Association (AMA) defines physicians as those individuals who have obtained an MD, DO, or equivalent medical degree from another country. Non-physicians may request a certificate of attendance for their participation.
Claiming your Educational Credits
This activity consists of: View content, take a post-test, the test may be taken as often as necessary to achieve a passing score of 80% or better is required to receive credit. If you do not achieve a passing score, the program will identify which questions you answered incorrectly so that you can review the module and try again. Complete the evaluation form.
Learner Data Consent
ACMG Education reports learner data to respective agency boards and you will be asked for consent during the evaluation process. Your compliance with deadlines and completing evaluations are part of the process in meeting learner needs and ACMG’s education mission.
Technical Support:
You can reach us by email at education@acmg.net or call 301-718-9603.
Support Center Hours: Monday – Friday, 9:00 AM – 5:00 PM Eastern Time.
Accredited Continuing Education Financial Disclosure
The American College of Medical Genetics and Genomics (ACMG) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide Accredited Continuing Education (ACE) for physicians. ACMG is an organization committed to improvement of patient care and general health by the incorporation of genetics and genomics into clinical practice.
ACMG has implemented the following procedures to ensure the independence of ACE activities from commercial influence/promotional bias, the Accreditation Council for Continuing Medical Education (ACCME) requires that providers (ACMG) must be able to demonstrate that: 1) everyone in a position to control the content of an ACE activity has disclosed all financial relationships that they have had in the past 24 months with ineligible* companies; 2) ACMG has implemented a mechanism to mitigate relevant financial relationships; and 3) all relevant financial relationships with ineligible companies are disclosed to the learners before the beginning of the educational activity. The learners must also be informed if no relevant financial relationships exist.
*Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients.
ACMG Education Policies
Please review the policies below regarding the ACMG Education program

All of the relevant financial relationships listed for these individuals have been mitigated.
NAME
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ROLE
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RELATIONSHIP/ COMPANY
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Planning Member
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Presenter Panelist Moderator
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Peer Reviewer
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Beth Pitel, MS, CG(ASCP)
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Advisory Board: Qiagen, LLC
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Adrian Dubuc, PhD, FACMG
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Nothing to Disclose.
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Valentina Nardi, MD
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Nothing to Disclose.
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Amir T. Fathi, MD
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Consultant: Amgen, Astellas Pharma, AstraZeneca, Autolus, Daiichi Sankyo Co, Genentech, Gilead Sciences Inc., Ipsen Biopharmaceuticals, Inc., Kite Pharma. Inc. Kura Oncology, Menarini Group, Novartis, Orum, Pfizer, Prelude Therapeutics, Remix, Rigel Pharmaceuticals, Inc., Schrodinger, Syndax, Takeda Oncology Consultant / Grant: Servier Pharmaceuticals LLC, AbbVie, Bristol-Myers Squibb
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Gabriela S. Hobbs, MD
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Consultant: Abbvie, Bristol Myers Squibb, GlaxoSmithKline, Novartis, PharmaEssenti, Sobi Research: Incyte Corporation
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Scott T. Ryall, PhD
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Nothing to Disclose.
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Melissa M. Zhao, MD
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Nothing to Disclose.
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Claudia Barnett
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Nothing to Disclose.
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Gordana Raca, MD, PhD, FACMG
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Nothing to Disclose.
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Jane Radford, MHA, CHCP
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Nothing to Disclose.
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Jason Saliba, PhD
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Nothing to Disclose.
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Manuela Benary, PhD
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Speaker: Novartis
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