A Case of Concurrent Papillary Thyroid Carcinoma in Familial Medullary Thyroid Microcarcinoma with a Germline C634W Mutation.
10.3803/EnM.2010.25.4.354
- Author:
Ji Hye KIM
1
;
Ji Hyun PARK
;
Tae Sun PARK
;
Hong Sun BAEK
;
Myoung Ja CHUNG
;
Ki Hwan HONG
Author Information
1. Presbyterian Medical Center, Jeonju, Korea.
- Publication Type:Case Report
- Keywords:
Concurrent;
Medullary;
Papillary
- MeSH:
Carcinoma;
Carcinoma, Medullary;
Carcinoma, Papillary;
Cysteine;
Factor IX;
Germ-Line Mutation;
Humans;
Multiple Endocrine Neoplasia Type 2a;
Multiple Endocrine Neoplasia Type 2b;
Oncogenes;
Point Mutation;
Siblings;
Thyroid Gland;
Thyroid Neoplasms;
Tryptophan
- From:Endocrinology and Metabolism
2010;25(4):354-359
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The origins of medullary carcinoma (MTC) and papillary carcinoma (PTC) of the thyroid are embryologically different. Tumors showing concurrent medullary and papillary features are rare and they represent less than 1% of all thyroid malignancies. Hereditary MTC is an autosomal dominantly inherited disease which is genetically determined as part of the MEN 2A, MEN 2B, or variants of MEN 2A such as familial MTC. Germline mutations of the RET gene are the underlying cause of the majority of cases of hereditary medullary carcinomas. The pathogenesis of concurrent PTC with familial MTC has rarely been known. Genetic analysis of the RET oncogene has so far provided conflicting results. Here we describe a family whose sibling was affected by both PTC & MTC, and the family carried a germ-line point mutation in the RET extracellular domain that converted cysteine 634 into tryptophan (C634W).
