A complex nine base pair deletion in RET exon 11 common in sporadic medullary thyroid carcinoma

Oncogene
M AlemiE Wilander

Abstract

Genetic alteration of the RET proto-oncogene is associated with multiple endocrine neoplasia type 2A and 2B (MEN 2A and MEN 2B), familial medullary thyroid carcinoma (FMTC) and Hirschprung's disease. Oncogenically activated RET has also been demonstrated in sporadic medullary thyroid tumors, which in some cases show somatic missense mutations. We have recently described a complex 9 bp deletion in RET exon 11 in a single case of sporadic MTC. In order to determine the prevalence of this mutation among sporadic MTC tumors, we have now analysed 15 cases and five normal controls by PCR-based nonradioactive single-strand conformational polymorphism analysis (PCR-SSCP) and fragment size analysis of exon 11. DNA was extracted from microdissected tumor tissue or normal cells and subjected to nested PCR prior to analysis. A markedly divergent SSCP pattern and a PCR fragment 9 bp shorter than normal were demonstrated in 14 of the 15 MTC tumors. Sequencing revealed the deletion of nine bases encompassing a key cysteine at codon 634, often altered in MEN 2A. Four lymphocyte controls and normal thyroid tissue from one patient failed to show the deletion. Several factors in the DNA sequence environment immediately surrounding the deletions, ...Continue Reading

Citations

Jul 21, 2005·Thyroid : Official Journal of the American Thyroid Association·Maria A KouvarakiDouglas B Evans
Mar 31, 2006·Thyroid : Official Journal of the American Thyroid Association·S DvorákováB Bendlová
Jun 9, 2000·Annual Review of Physiology·A O HoffR F Gagel
Jul 5, 2003·Journal of Endocrinological Investigation·O Gimm, D J Marsh
Oct 20, 2009·The Surgical Clinics of North America·Göran Akerström, Peter Stålberg
Feb 20, 2008·Molecular and Cellular Endocrinology·S DvorakovaB Bendlova
Jun 9, 1998·Japanese Journal of Cancer Research : Gann·S UchinoH Yamashita
May 14, 2016·Genetics Research·Maha Rebaї, Ahmed Rebaї
Jul 20, 2006·Endocrine Reviews·Jan Willem B de GrootRobert M W Hofstra

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