Identification of a Secondary Mutation in a Pediatric Patient with Relapsed Acute Myeloid Leukemia Leads to the Diagnosis and Treatment of Asymptomatic Metastatic Medullary Thyroid Cancer in a Parent: a Case for Sequencing the Germline

Overview

Journal Cold Spring Harb Mol Case Stud

Specialty Genetics

Date 2019 Apr 3

PMID 30936199

Citations 1

Authors

Danielle M Pendrick

Jennifer A Oberg

Susan J Hsiao

Wendy K Chung

Carrie Koval

Anthony Sireci

Jennifer H Kuo

Prakash Satwani

Chana L Glasser

Maria Luisa Sulis

Mahesh M Mansukhani

Julia L Glade Bender

Affiliations

Soon will be listed here.

Abstract

The incorporation of tumor-normal genomic testing into oncology can identify somatic mutations that inform therapeutic measures but also germline variants associated with unsuspected cancer predisposition. We describe a case in which a variant was identified in a 3-yr-old male with relapsed leukemia. Sanger sequencing revealed the patient's father and three siblings carried the same variant, associated with multiple endocrine neoplasia 2A (MEN2A). Evaluation of the father led to the diagnosis and treatment of metastatic medullary thyroid carcinoma. Detection of mutations in families with hereditary MTC allows for genetic risk stratification and disease surveillance to reduce morbidity and mortality.

Citing Articles

A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.

Sapp J, Facio F, Cooper D, Lewis K, Modlin E, van der Wees P Genet Med. 2021; 23(12):2260-2269.

PMID: 34433902 PMC: 9017985. DOI: 10.1038/s41436-021-01295-7.

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