Two Cases of Multiple Endocrine Neoplasia Type II with RET Mutaion
- Author:
Sun Young YOO
1
;
Yi Ho CHOI
;
Min Kyung LEE
;
Min Sun KIM
;
Pyoung Han HWANG
Author Information
1. Department of Pediatrics, Chonbuk National University Medical School, Jeonju, Korea.
- Publication Type:Case Report
- Keywords:
Multiple endocrine neoplasia type 2(MEN 2);
MEN2 mutation
- MeSH:
Asymptomatic Diseases;
Child;
Chromosomes, Human, Pair 10;
Codon;
Female;
Germ-Line Mutation;
Humans;
Hyperplasia;
Male;
Multiple Endocrine Neoplasia Type 2a;
Multiple Endocrine Neoplasia;
Mutation, Missense;
Parents;
Pheochromocytoma;
Proto-Oncogenes;
Thyroid Neoplasms;
Thyroidectomy
- From:Clinical Pediatric Hematology-Oncology
2014;21(2):163-167
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Multiple endocrine neoplasia type 2(MEN2) is a rare autosomal dominant inherited disorder characterized by the presence of medullary thyroid carcinoma, pheochromocytoma and other hyperplasia and/or neoplasia of different endocrine tissues in a single patient. MEN 2 is caused by germline mutations in the RET proto-oncogene is located on the pericentromeric region of chromosome 10 (10q11.2). We present our experience with two rare cases of MEN 2, an 11-years-old girl and a 10-years-old boy. Their parents had medullary thyroid carcinoma and genetic analysis showed the missense mutation of RET. They were screened for mutations in the RET proto-oncogene and RET mutations were found at codons 634 and 641. They were asymptomatic state but the girl had prophylactic total thyroidectomy. Children of families with RET mutations may develop early cancers and require prophylactic thyroidectomy before eight years.
