Rare mutations of the Gs alpha subunit gene in human endocrine tumors. Mutation detection by polymerase chain reaction—primer-introduced restriction analysis
✍ Scribed by Katsuhiko Yoshimoto; Hiroyuki Iwahana; Ayumi Fukuda; Toshiaki Sano; Mitsuo Itakura
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 785 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0008-543X
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✦ Synopsis
Background. The Gs alpha (Gsa) 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 Gsa gene in human endocrine tumors, 197 tumors were screened for point mutations at codons 201 or 227 of the Gsa gene.
Methods. Mutations were detected by primer-introduced restriction analysis (PIRA) of the polymerase chain reaction (PCR) product of genomic DNA.
Results. These Gsa 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 l), 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 Gsa mutations were detected in parathyroid tumors, endocrine pancreatic tumors, or pheochromocytomas.
Conclusions. Gsa mutations at these two loci may play a role in the pathogenesis of a small population of From the