Neoplasia endócrina múltipla Tipo 2B – caso clínico
Palavras-chave:
MEN 2B, carcinoma medular da tiróide, proto-oncogene RETResumo
Descreve-se o caso de um doente de 19 anos, sexo masculino,
raça caucasiana, com habitus marfanóide, hipertrofia dos nervos
da córnea, neuromas dos lábios e da língua, alterações músculo-esqueléticas, aumento da glândula supra-renal esquerda com
expressão nodular compatível com adenoma não funcionante e
seringomielia, pelo que foi referenciado à consulta de Medicina
Interna por suspeita de Neoplasia Endócrina Múltipla (MEN 2B).
Do estudo do doente destaca-se o diagnóstico de carcinoma
medular da tiróide (CMT) com metastização ganglionar cervical e
pulmonar, tendo sido submetido a tiroidectomia total, com várias
complicações no pós-operatório. O estudo molecular revelou
a presença de mutação no codão 918 do exão 16 do protooncogene RET localizado no cromossoma 10, que confirmou o
diagnóstico de MEN2B.
Discute-se a necessidade de um diagnóstico precoce, dada a
existência de alterações já presentes na infância e adolescência,
de terapêutica agressiva e rastreio familiar tendo em conta a elevada mortalidade destas síndromes.
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Referências
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Este trabalho encontra-se publicado com a Licença Internacional Creative Commons Atribuição 4.0.
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