Searchable abstracts of presentations at key conferences in endocrinology

ea0014p99 | (1) | ECE2007

The genetic association of medullary thyroid carcinoma with Hirschsprung’s disease

Dvorakova Sarka , Vaclavikova Eliska , Skaba Richard , Vlcek Petr , Bendlova Bela

Medullary Thyroid Carcinoma (MTC) can be associated with HirschsprungÂ’s disease (HSCR). Mutations in exon 10 of the RET proto-oncogene were found in patients with co-occurrence of HSCR and MTC. The aim of the study was to screen the MTC risk exons in patients with HSCR. The genetic analysis comprised 73 HSCR patients (53 males, 20 females) who were operated on and followed-up during 2001-2006. The cohort consisted of 48 patients with classical HSCR, 11 with long colonic a...

ea0014oc3.4 | Endocrine tumors & neoplasia | ECE2007

RET mutation – Tyr791Phe – the genetic cause of different diseases derived from neural crest

Vaclavikova Eliska , Dvorakova Sarka , Vlcek Petr , Skaba Richard , Bilek Radovan , Bendlova Bela

Familial medullary thyroid carcinoma (MTC), multiple endocrine neoplasia types 2A and 2B (MEN2A, 2B) and Hirschsprung disease (HSCR) are inherited neurocristopathies linked to germline mutations in the RET proto-oncogene. Activating germline RET mutations are presented in patients with FMTC, MEN2A and MEN2B, on the other hand, inactivating germline mutations in patients with HSCR. Nevertheless, there is an overlay in specific mutations in the exon 10 of the RET proto-oncogene....