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MEN1 gene mutations in sporadic neuroendocrine tumors of foregut derivation
Author(s) -
Fujii Takeshi,
Kawai Toshiro,
Saito Ken,
Hishima Tsunekazu,
Hayashi Yukiko,
Imura Joji,
Hironaka Mitsugu,
Hosoya Yoshinori,
Koike Morio,
Fukayama Masashi
Publication year - 1999
Publication title -
pathology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
eISSN - 1440-1827
pISSN - 1320-5463
DOI - 10.1046/j.1440-1827.1999.00971.x
Subject(s) - men1 , multiple endocrine neoplasia , foregut , missense mutation , germline mutation , biology , neuroendocrine tumors , pancreas , nonsense mutation , mutation , cancer research , pathology , germline , carcinogenesis , gene , genetics , medicine , endocrinology , anatomy
Foregut‐derived neuroendocrine (NE) tumors occur sporadically or in association with multiple endocrine neoplasia type 1 (MEN1) syndrome. Thirty‐nine sporadic NE tumors of foregut derivation (six thymic, 21 bronchial, three gastric, and nine pancreatic tumors) as well as two hindgut‐derived rectal carcinoids for somatic MEN1 gene mutation were analyzed by direct sequencing analysis. Five tumors showed mutations: nonsense mutations (Q393X and R98X) in thymic and pancreatic NE tumors, respectively, a 4 b.p. deletion (357del4) in a gastric NE carcinoma, and missense mutations (D172Y and S178Y) in pancreatic NE tumors. No mutation was identified in pulmonary or rectal NE tumors. In a patient with a pancreatic NE tumor (D172Y), the corresponding germline DNA showed the same mutation, suggesting that sporadic MEN1 syndrome was masked in this case. Somatic MEN1 gene mutations and deletions may play a crucial role in the tumorigenesis of a subset of foregut‐derived NE tumors. Sporadic MEN1 syndrome may occur as a sporadic NE tumor of the pancreas.