Somatic Mutational Analysis of MEN1 and Phenotypic Correlation in Sporadic Parathyroid Tumors .
10.4174/jkss.2009.76.1.15
- Author:
Young Su CHAE
;
Hee Jin KIM
;
Sun Wook KIM
;
Myung Chul CHANG
- Publication Type:Original Article
- Keywords:
Parathyroid;
MEN1;
Sporadic;
Somatic mutation
- MeSH:
Adenoma;
Base Pairing;
Codon, Nonsense;
Exons;
Hyperplasia;
Medical Records;
Multiple Endocrine Neoplasia Type 1;
Mutation, Missense;
Phenotype;
Point Mutation
- From:Journal of the Korean Surgical Society
2009;76(1):15-22
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: MEN1 gene mutation causes multiple endocrine neoplasia type 1. It also suggests that somatic MEN1 gene mutation plays a role in sporadic endocrine tumor. In this study, we examined whether somatic mutations of MEN1 gene are responsible for sporadic parathyroid tumors and correlate with clinical manifestations of parathyroid tumors. METHODS: Somatic mutation of MEN1 gene in the formalin-fixed, paraffin-embedded parathyroid tumor tissue from 8 adenomas, 2 carcinomas and 1 hyperplasia were analyzed by direct sequencing. Clinicopathological parameters were reviewed from medical records and compared with the mutational data. RESULTS: Eight of eleven (73%) sporadic parathyroid tumors had somatic MEN1 mutations of 14 different types. In the 14 types, 13 were a point mutation which is composed of 8 missense mutations, 2 nonsense mutations and 3 silent mutations. One of 14 types is a frameshift deletion of 27 base pairs in exon 2. Somatic mutation was frequent in the exon 2 and exon 10. Four types of polymorphism were found. There was no correlation between the presence of mutations and clinicopathological phenotype of parathyroid tumors. CONCLUSION: This result suggests that somatic mutation of MEN1 gene plays a definite role in sporadic parathyroid tumor formation.
