RET proto-oncogene point mutations in sporadic neuroendocrine tumors

The Journal of Clinical Endocrinology and Metabolism
P KomminothP U Heitz

Abstract

We investigated the possible role of the RET proto-oncogene, which has recently been identified as the susceptibility gene for multiple endocrine neoplasia type 2, in the development of sporadic neuroendocrine tumors from different locations. DNA extracted from paraffin-embedded specimens of 112 neuroendocrine tumors was screened for somatic RET point mutations in exons 10, 11, 13, 15, and 16, where recently oncogenic mutations have been described in a subset of sporadic medullary thyroid carcinomas and pheochromocytomas. Methods employed included nonisotopic PCR-based single strand conformation polymorphism (PCR-SSCP) analysis, heteroduplex gel electrophoresis, and restriction enzyme digestion. The nucleotide sequence of samples with aberrant band patterns was identified by nonisotopic direct sequencing of PCR-amplified DNA. Forty-four percent (7/16) of sporadic medullary thyroid carcinomas and 15% (3/20) of pheochromocytomas contained a somatic, heterozygous point mutation at codon 918 of exon 16 (ATG --> ACG) causing a Met --> Thr substitution. None of the remaining 4 parathyroid adenomas, 8 pituitary adenomas, 17 pancreatic neuroendocrine tumors, 11 pulmonary and 10 gastrointestinal carcinoids, 7 small cell lung carcinomas,...Continue Reading

Citations

Nov 10, 2000·Journal of Medical Genetics·J R Hansford, L M Mulligan
Jun 18, 2011·Clinical & Experimental Metastasis·Nicole PosorskiFerdinand von Eggeling
Oct 6, 2007·Endocrine Pathology·Andrea Z LaiLois M Mulligan
Jul 13, 2002·Endocrine Pathology·Paul Komminoth
Jul 13, 2002·Endocrine Pathology·Paul KomminothJürgen Roth
Nov 28, 2015·Archivum Immunologiae Et Therapiae Experimentalis·Nan Xiao, Quynh-Thu Le
Aug 9, 2007·Virchows Archiv : an International Journal of Pathology·Aurel PerrenPaul Komminoth
Jan 11, 2018·Endocrine Research·Fereidoun AziziAtieh Amouzegar
Aug 24, 1999·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·C Eng

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