ea0014oc3.4 | Endocrine tumors & neoplasia | ECE2007
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....