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Case Report

Cancer Research Frontiers. 2016 Feb; 2(1): 60-66. doi: 10.17980/2016.60

A 93-year-old MEN2A mutation carrier without Medullary Thyroid Carcinoma: a case report and overview of the literature

Karin van der Tuin1, Nandy Hofland1, Natasha M. Appelman-Dijkstra2, Rob B. van der Luijt3, Tom van Wezel4, Hans Morreau4 and Frederik J. Hes1*

 

1 Department of Clinical Genetics, Leiden University Medical Center, POBox 9600, 2300 RC Leiden, the Netherlands.

2 Center for Endocrine Tumours Leiden, Department of Medicine, Division Endocrinology, Leiden University Medical Center, POBox 9600, 2300 RC Leiden, the Netherlands.

3 Department of Medical Genetics , University Medical Center Utrecht, POBox85500, 3508 GA Utrecht, the Netherlands.

4 Department of Pathology, Leiden University Medical Center, POBox 9600, 2300 RC Leiden, the Netherlands.

 

*Corresponding author: Frederik J. Hes Email: f.j.hes@lumc.nl

Citation: Karin van der Tuin et al. A 93-year-old MEN2A mutation carrier without Medullary Thyroid Carcinoma: a case report and overview of the literature. Cancer Research Frontiers. 2016 Feb; 2(1): 60-66. doi: 10.17980/2016.60

Copyright: @ 2016 Karin van der Tuin, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Competing Interests: The authors declare no competing financial interests.

Received Aug 17, 2015; Revised Dec 16, 2015; Accepted Dec 24, 2015. Published Feb 11, 2016

 

 

Abstract

Background: Multiple Endocrine Neoplasia (MEN) type 2 is a neuroendocrine neoplasia predisposition syndrome caused by a heterozygous germline mutation in the RET proto-oncogene. Mutation carriers have a lifetime risk of nearly 100% of developing medullary thyroid carcinoma. Approximately 40-50% of patients with MEN2A develop a pheochromocytoma and 20-30% develop primary hyperparathyroidism.

Case report: We describe an unusual case of apparent non-penetrance in a 93-year-old carrier of an apparent de novo RET germline mutation (c.1858T>C, p.C620R) without clinical symptoms of MEN2A. Different tissue types were tested for this mutation, making mosaicism less likely. His son was diagnosed at the age of 50 years old with metastasized medullary thyroid carcinoma. Pathological examination of material of a prophylactic thyroidectomy from his 19-year-old grandson showed multiple micro-carcinomas.

Discussion and conclusion: This unusual case of a 93-year-old carrier without apparent medullary thyroid carcinoma questions the full penetrance of a germline mutation in RET codon 620. Further investigation of genetic modifiers is warranted, to further explore phenotypic risk profiles of specific RET genotypes.

Keywords: Medullary Thyroid Carcinoma; MTC; Multiple Endocrine Neoplasia; MEN2; RET proto-oncogene; case-report.

 

 

 
 

 

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