Cáncer medular de tiroides familiar: importancia del estudio molecular en el diagnóstico

Familial medullary thyroid cancer (FMTC) is a non-predominant thyroid neoplasia originating from a proto-oncogene RET mutation. The case presented is atypical in its form of presentation, a fairly uncommon mutation (V804L) and does not have conclusive fine-needle aspiration biopsy (FNAB) and image studies. Biochemical and RET molecular analysis has a high diagnostic and predictive value in the index and familial cases.