ea0049ep1217 | Clinical case reports - Thyroid/Others | ECE2017
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...