H-Index
17
Scimago Lab
powered by Scopus
eISSN: 1941-5923
call: +1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Logo

MSMbanner
Medical Science Monitor Basic Research

Annals
ISI-Home

Get your full text copy in PDF

Unexpected Pathogenic RET p.V804M Variant Leads to the Clinical Diagnosis and Management of Medullary Thyroid Carcinoma

Arezou A. Ghazani, Katelyn M. Breen, Meaghan Dwan, Justine A. Barletta, Donna R. Vatnick, Samantha M. Stokes, Caroline Block, Gerard M. Doherty, Aviva Y. Cohn, Ellen Marqusee, Judy E. Garber, Huma Q. Rana

(Division of Genetics, Department of Medicine, Brigham and Women’s Hospital, Boston, MA, USA)

Am J Case Rep 2020; 21:e927415

DOI: 10.12659/AJCR.927415


BACKGROUND: RET p.V804M is a known activating oncogenic variant that confers an increased risk for medullary thyroid carcinoma (MTC). Based on age-specific penetrance, the American Thyroid Association (ATA) categorizes this variant as posing moderate risk. Therefore, ATA guidelines endorse prophylactic thyroidectomy for carriers in childhood (by age 5-10 years) or adulthood, or when the serum calcitonin level becomes elevated. The recommendation for thyroidectomy is increasingly controversial due to the recently reported low penetrance of the RET p.V804M variant in a large unbiased ascertainment cohort.
CASE REPORT: We describe the unexpected identification of this variant in a 62-year-old woman undergoing broad, multigene cancer panel testing for her personal and family history of breast cancer. There was no known family history of MTC. Biochemical screening prompted by the RET p.V804M result revealed a mildly elevated serum calcitonin. Pathology examination of her thyroidectomy specimen revealed multifocal medullary thyroid microcarcinoma; her sibling’s prophylactic thyroidectomy after a RET p.V840M-positive result similarly revealed early-stage MTC.
CONCLUSIONS: This report demonstrates the value of genetic counseling, shared decision-making, cascade testing, and timely thyroidectomy in the management of a patient with an unexpected RET p.V804M result.

This paper has been published under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.
I agree