Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep1217 | Clinical case reports - Thyroid/Others | ECE2017

Simultaneous papillary and medullary thyroid carcinoma in siblings with RET 611 mutation. More than a coincidence?

Paja Miguel , Zabalegui Alba , Dublang Maddalen , Etxeberria Eider , Iglesias Natalia C , Calles Laura A , Arrizabalaga Cristina , Lizarraga Aitzol , Gutierrez M Teresa , Ugalde Aitziber

Germinal mutations of the oncogene RET originate the development of medullary thyroid carcinoma (MTC) in carriers with phenotypic expression depending on the mutated codon and other unknown factors. Simultaneous detection of differentiated thyroid carcinomas is considered a casual phenomenon (collision tumours). We communicate two brothers with double heterozygous mutation of maternal inheritance at codon 611 of RET, TGC to TTT, changing to encode phenylalanine (C611F), with a...