A family of multiple endocrine neoplasia type 2A associated with a C618R mutation in RET proto-oncogene.
- Author:
Nang Hee KIM
1
;
Joo Hoon KIM
;
Ji Hyun NAM
;
Jung Pil PARK
;
JI Eun PARK
;
Young Sik CHOI
;
Yo Han PARK
Author Information
1. Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea. parkjp@ns.kosinmed.or.kr
- Publication Type:Case Report
- Keywords:
Multiple endocrine neoplasia type 2A;
RET proto-oncogene;
Mutation
- MeSH:
Carcinoma, Medullary;
Codon;
Exons;
Family Characteristics;
Humans;
Leukocytes;
Multiple Endocrine Neoplasia Type 2a*;
Multiple Endocrine Neoplasia Type 2b;
Multiple Endocrine Neoplasia*;
Parathyroid Neoplasms;
Pheochromocytoma;
Proto-Oncogenes*;
Thyroid Diseases;
Thyroid Gland;
Thyroid Neoplasms;
Ultrasonography
- From:Korean Journal of Medicine
2006;70(4):448-454
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Medullary thyroid carcinoma (MTC) is a relatively rare malignant thyroid disease that accounts for approximately 1% to 5% of all thyroid carcinomas. MTC occurs as a sporadic disease and as an inherited disease with the multiple endocrine neoplasia type 2A (MEN2A), MEN2B, and familial non-MEN medullary carcinoma (FMTC). MEN2A is characterized by MTC, pheochromocytoma, and parathyroid adenoma. The mutation of RET proto-oncogene plays an important role in MEN2A syndromes. Recently the authors diagnosed MEN2A patient and screened his family with thyroid ultrasonogram and RET proto-oncogene analysis. A genetic analysis of the peripheral leukocyte showed a codon 618 mutation (Cys618Arg) at exon 10 of the RET proto-oncogene in a family presenting third generations from age 7 to age 56 years. We report this case of MEN2A with a review of the related literatures.
