Somatic mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in patients with sporadic, nonfamilial primary hyperparathyroidism.
BACKGROUND
Multiple endocrine neoplasia type 1 (MEN 1) is a syndrome with tumors of many endocrine tissues. Germline MEN1 gene mutations were found in most patients with familial or sporadic MEN 1. Recently, somatic MEN1 gene mutations were also detected in sporadic non-MEN 1 endocrine tumors.


METHODS
We used direct sequence analysis to investigate MEN1 gene mutations in 30 parathyroid tumors obtained from 30 patients with sporadic, nonfamilial primary hyperparathyroidism.


RESULTS
Four patients had somatic mutations of the MEN1 gene, comprising 1 small insertion (1091insAGC), one missense mutation (G42S), and 2 non-sense mutations (E388X, R460X). Identical missense and non-sense mutations were found in patients with familial and non-familial MEN 1. There were no differences between clinical features of patients with and without MEN1 gene mutations.


CONCLUSIONS
The incidence of somatic MEN1 gene mutations (13.3%) in Japanese patients with sporadic, nonfamilial primary hyperparathyroidism is almost equal to those of such patients in the United States and Sweden. Occasionally, the MEN1 gene mutation sites in sporadic parathyroid tumors are identical to those reported in tumors from patients with familial or sporadic MEN 1.
Sato
K
K
Department of Medicine, Tokyo Women's Medical University, Japan.
Yamazaki
K
K
Zhu
H
H
Kanbe
M
M
Iihara
M
M
Wada
Y
Y
Tanaka
R
R
Okamoto
T
T
Ito
Y
Y
Obara
T
T
D004247:DNA / Q000737:chemistry; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics*; D007438:Introns; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011518:Proto-Oncogene Proteins
C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D004247:DNA