Paraganglioma – Fatores preditores de maior agressividade
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Paraganglioma, mutação da succinato desidrogenase, doença metastática, prognósticoResumo
Os paragangliomas são tumores neuroendrócrinos raros cuja clínica e apresentação dependem do perfil secretor, tamanho e localização. Cerca de 40% dos paragangliomas estão associados a síndromes genéticos, sendo a mutação do complexo enzimático succinato desidrogenase (SDH) a mais frequente. A presença de mutação no SDHB está associada a pior prognóstico com risco aumentado de metastização. Apresentamos um caso clínico de um homem de 45 anos, com mutação germinativa no gene SDHB, submetido inicialmente a exérese de paraganglioma com 10 cm que recidivou com doença disseminada. Realizou diversos tratamentos sistémicos com resposta parcial, mas acabou por falecer no contexto da doença oncológica. A propósito deste caso, revemos alguns fatores preditores de mau prognóstico.
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Referências
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