Somatic Mutational Analysis of MEN1 and Phenotypic Correlation in Sporadic Parathyroid Tumors
Journal of the Korean Surgical Society
;
: 15-22, 2009.
Article
in Korean
| WPRIM
| ID: wpr-95320
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Adenoma
/
Medical Records
/
Exons
/
Point Mutation
/
Multiple Endocrine Neoplasia Type 1
/
Codon, Nonsense
/
Mutation, Missense
/
Base Pairing
/
Hyperplasia
Language:
Korean
Journal:
Journal of the Korean Surgical Society
Year:
2009
Type:
Article
Similar
MEDLINE
...
LILACS
LIS