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[Proto-oncogene RET somatic mutations in medullary thyroid carcinoma]
M Wiench1, M Kwaśniewski, E Gubała
1Zakładu Medycyny Nuklearnej i Endokrynologii Onkologicznej, Centrum Onkologii-Instytut im. M. Skłodowskiej-Curie, Oddział w Gliwicach.
Unlabelled:
Somatic mutations of the RET protooncogene are present in 23-68% cases of sporadic medullary thyroid carcinoma (MTC). The aim of the study was to introduce the RET somatic mutations analysis in tumor tissue as well as to evaluate their types and frequencies in postoperative specimens of MTC patients treated in the Center of Oncology in Gliwice.
Material:
14 tumor tissues obtained from sporadic MTC patients and two control groups--six and four specimens from patients with MEN 2A and MEN 2B syndrome respectively.
Methods:
Tumor tissue DNA isolation followed by PCR amplification of RET exons 10, 11, 13, 14, 16 and automated, fluorescent sequencing of PCR products. We identified somatic mutation ATG > ACG in codon 918, exon 16 in 7 of 14 (50%) of analyzed sporadic MTC cases. We also found one deletion/insertion mutation in RET exon 11 that encompasses cysteine codon 634 and has not been published so far. The types and frequencies of found RET gene mutations were similar to previously reported. The analysis of RET somatic mutations supports the differentiation between the sporadic and inherited MTC. The presence of somatic mutation and its simultaneous absence in the germline proves sporadic type of cancer.