J Korean Surg Soc.  2009 Jan;76(1):15-22. 10.4174/jkss.2009.76.1.15.

Somatic Mutational Analysis of MEN1 and Phenotypic Correlation in Sporadic Parathyroid Tumors

Affiliations
  • 1Department of Surgery, Dankook University College of Medicine, Cheonan, Korea. changmc@dankook.ac.kr
  • 2Department of Internal Medicine, Division of Endocrinology and Metabolism, Dankook University College of Medicine, Cheonan, Korea.
  • 3Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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.

Keyword

Parathyroid; MEN1; Sporadic; Somatic mutation

MeSH Terms

Adenoma
Base Pairing
Codon, Nonsense
Exons
Hyperplasia
Medical Records
Multiple Endocrine Neoplasia Type 1
Mutation, Missense
Phenotype
Point Mutation
Codon, Nonsense
Full Text Links
  • JKSS
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
    DB Error: unknown error