Title: Liquid Biopsy Detection of a TP53 Variant in a “Disease Free” Pediatric Patient: Challenges in Interpretation

Tuesday, August 27^th, 2024

11:00am-12:00pm ET

Description

Plasma-derived cell-free DNA (cfDNA) testing, or “liquid biopsy”, is swiftly emerging as a minimally invasive complement to traditional tumor biopsies and a potential alternative to invasive tissue biopsy in some scenarios. With increased implementation of this testing, awareness of its advantages and limitations becomes particularly critical. Drs. Patrick Blackburn and Selene Koo discuss the case of a child with an adrenocortical carcinoma harboring a TP53 variant, which was detected through comprehensive genomic analysis of tumor tissue at diagnosis, in plasma cfDNA months after initial surgical resection, and in subsequent metastatic tumor. We highlight potential confounders and pitfalls of liquid biopsy testing for surveillance of cancer patients.

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.

Agenda

Presentation followed by live Q&A.

Learning Objectives

At the conclusion of this session, participants should be able to:

1. Describe the variants identified in the presented case
2. Explain how pediatric cancer variant interpretation can differ from those arising in adult tumors
3. Recall how genomic testing impacts patient care and management

Beth Pitel, MS Clinical Variant Scientist Mayo Clinic – Division of Laboratory Genetics and Genomics

	Patrick R. Blackburn, PhD, FACMG Department of Pathology, St. Jude Children’s Research Hospital
	Selene C. Koo, MD, PhD Department of Pathology, St. Jude Children’s Research Hospital

Planning Committee:

Beth Pitel, MS, CG(ASCP)

Gordana Raca, MD, PhD, FACMG

Manuela Benary, PhD

Jason Saliba, PhD

Jane Radford, MHA, CHCP

Continuing Medical Education (CME AMA & CME Other)

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 live 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

Complete the activity and carefully complete the evaluation form. The deadline to claim educational credits is within 30 days of the date of the activity. Educational credit requests after this date will not be accepted.

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.

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

• Financial Disclosures and Mitigation Procedure
• ACMG Content Validation Policy
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All of the relevant financial relationships listed for these individuals have been mitigated.

Questions regarding CE credit should be directed to education@acmg.net