Premium
Rare mutations of the Gs alpha subunit gene in human endocrine tumors. Mutation detection by polymerase chain reaction—primer‐introduced restriction analysis
Author(s) -
Yoshimoto Katsuhiko,
Iwahana Hiroyuki,
Fukuda Ayumi,
Sano Toshiaki,
Itakura Mitsuo
Publication year - 1993
Publication title -
cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.052
H-Index - 304
eISSN - 1097-0142
pISSN - 0008-543X
DOI - 10.1002/1097-0142(19930815)72:4<1386::aid-cncr2820720439>3.0.co;2-j
Subject(s) - multiple endocrine neoplasia , point mutation , adenoma , multiple endocrine neoplasia type 2 , pituitary tumors , thyroid , mutation , gene mutation , biology , cancer research , germline mutation , medicine , endocrinology , gene , genetics
Background . The Gs alpha (Gsα) gene can be activated to the putative oncogene gsp by specific point mutations at codons 201 or 227. Such mutations have been reported in growth hormone (GH)‐secreting pituitary adenomas and thyroid tumors. To clarify the role of Gsα gene in human endocrine tumors, 197 tumors were screened for point mutations at codons 201 or 227 of the Gsα gene. Methods . Mutations were detected by primer‐introduced restriction analysis (PIRA) of the polymerase chain reaction (PCR) product of genomic DNA. Results . These Gsα mutations were present in 4 of 53 pituitary adenomas (4 of 43 GH‐secreting adenomas; 1 of these 4 was a GH‐ and prolactin‐secreting adenoma from a patient with familial multiple endocrine neoplasia Type 1), 4 of 66 thyroid tumors (4 of 30 papillary carcinomas), and 1 of 19 adrenocortical adenomas (1 of 6 aldosterone‐secreting adenomas). In contrast, none of these Gsα mutations were detected in parathyroid tumors, endocrine pancreatic tumors, or pheochromocytomas. Conclusions . Gsα mutations at these two loci may play a role in the pathogenesis of a small population of GH‐secreting pituitary adenomas, papillary thyroid carcinomas, and adrenocortical adenomas, but that they are not involved in the pathogenesis of other types of endocrine tumors.