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Neoplasia endócrina múltipla tipo 2A : um update e a discussão de um caso clínico
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A neoplasia endócrina múltipla do tipo 2A (NEM-2A) é uma síndrome autossómica dominante caracterizada pela ocorrência concomitante de carcinoma medular da tiroide (CMT), feocromocitoma (FEO) e/ou hiperparatiroidismo primário (HPTP) num mesmo doente. A NEM-2A é causada por mutações ativadoras no protooncogene RET (do inglês, rearranged during transfection).1 Menos frequentemente, a NEM-2A pode ter outras manifestações associadas, nomeadamente, a doença de Hirschsprung e amiloidose cutânea sob a forma de líquen.2 O CMT é normalmente a primeira manifestação e a principal causa de morte em doentes com NEM-2A, tem pior prognóstico quando se encontra metastizado e melhor prognóstico tratado precocemente.3 A relação entre o genótipo da doença e o seu fenótipo (os tumores endócrinos expressos, a idade de aparecimento e a agressividade dos tumores) tem sido cada vez mais bem documentada ao longo dos últimos anos. Deste modo, a associação de mutações no RET causadoras à síndrome NEM-2A proporcionou a identificação de indivíduos em risco, e consequentemente, a antecipação do seu tratamento (por vezes, considerado profilático).3,4 Neste trabalho, será primeiramente abordada a fisiopatologia, a marcha diagnóstica e a terapêutica da NEM-2A, e posteriormente será discutido um caso clínico relacionado com esta patologia.
Multiple endocrine neoplasia type 2A (MEN-2A) is an autosomal dominant genetic syndrome caused by activating mutations in the RET (rearranged during transfection) proto-oncogene. Patients with this syndrome almost always have medullary thyroid carcinoma (MCT), they may have pheochromocytoma and/or primary hyperparathyroidism.1 The syndrome of MEN-2A can have other, but less frequent, associated clinical manifestations, such as, Hirschsprung’s disease and cutaneous lichen amyloidosis.2 Usually, MCT is the first manifestation and the main cause of death of patients with MEN-2A. Its prognosis is worst when the tumor is metastasized and it’s better when early treated.The genotype-phenotype correlation (the kind of endocrine tumors expressed, age of their clinical expression and tumors’ aggressivity) has been well documented in the past few years. Consequently, the association of RET mutations to this syndrome has been helping the identification of individuals at risk and the anticipation of their (sometimes prophylactic) treatment. In this article, there’s firstly an approach to the pathophysiology, diagnostic process and therapeutics of the MEN-2A, and then the discussion of a related clinical case.
Multiple endocrine neoplasia type 2A (MEN-2A) is an autosomal dominant genetic syndrome caused by activating mutations in the RET (rearranged during transfection) proto-oncogene. Patients with this syndrome almost always have medullary thyroid carcinoma (MCT), they may have pheochromocytoma and/or primary hyperparathyroidism.1 The syndrome of MEN-2A can have other, but less frequent, associated clinical manifestations, such as, Hirschsprung’s disease and cutaneous lichen amyloidosis.2 Usually, MCT is the first manifestation and the main cause of death of patients with MEN-2A. Its prognosis is worst when the tumor is metastasized and it’s better when early treated.The genotype-phenotype correlation (the kind of endocrine tumors expressed, age of their clinical expression and tumors’ aggressivity) has been well documented in the past few years. Consequently, the association of RET mutations to this syndrome has been helping the identification of individuals at risk and the anticipation of their (sometimes prophylactic) treatment. In this article, there’s firstly an approach to the pathophysiology, diagnostic process and therapeutics of the MEN-2A, and then the discussion of a related clinical case.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2016
Palavras-chave
Neoplasia endócrina múltipla tipo 2a Carcinoma medular Glândula tireoide Feocromocitoma