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Tricoleucémia : caracterização clínica de uma série unicêntrica num período de 12 anos
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A Tricoleucemia (HCL) é uma neoplasia linfoproliferativa crónica de células B. É uma doença rara, mais frequente no sexo masculino e com uma idade média de apresentação de 50 anos. A apresentação clinica é caracterizada por citopénias, esplenomegália e sintomas inespecíficos como astenia e perda ponderal. O gold standard diagnóstico é a imunofenotipagem de medula óssea por citometria de fluxo, com identificação de uma população neoplásica que habitualmente expressa os antigénios CD11c, CD25 e CD103. Estudos recentes estabeleceram que a mutação BRAFV600E está presente na vasta maioria dos doentes com esta patologia. A terapêutica mais frequentemente utilizada são os análogos das purinas, fármacos que apresentam taxas de resposta completa (RC) elevadas. Fármacos mais recentes incluem inibidores da BRAF e imunotoxinas recombinantes. A sobrevivência da HCL é geralmente prolongada. Neste trabalho foram analisados retrospectivamente todos os casos de HCL com início de seguimento no Instituto Português de Oncologia de Lisboa entre 2003 e 2015. Da análise desta série conclui-se que é epidemiologicamente semelhante ao descrito na literatura, com uma apresentação clínica e fenótipo medular característicos e uma excelente resposta à terapêutica e longa sobrevivência.
The Hairy Cell Leukemia is a chronic B cell lymphoproliferative neoplasia. It is a rare disease, more frequent in the male sex and with an average age at presentation of 50 years. The clinical presentation is characterized by cytopenia, splenomegaly and unspecific symptoms as weakness and weight loss. The gold standard for the diagnosis of HCL is the bone marrow immunophenotyping by flow cytometry. This exam identifies a neoplastic population that usually expresses the antigens CD11c, CD25 and CD103. Recent studies have established that the BRAFV600E mutation is present in the vast majority of the patients with HCL. The pharmacological therapy widely used in this disease is the purine analogues, agents with high percentages of complete responses. Recent therapies include BRAF inhibitors and recombinant immunotoxins. The overall survival of HCL is usually high. In this paper all cases of HCL with a follow-up in IPO Lisbon between 2003 and 2015 were retrospectively analyzed. From this analysis we concluded that this population has a similar epidemiology when in comparison with the data found in scientific papers, with a classical clinical presentation and phenotype. The therapy response rates are excellent and the overall survival is long.
The Hairy Cell Leukemia is a chronic B cell lymphoproliferative neoplasia. It is a rare disease, more frequent in the male sex and with an average age at presentation of 50 years. The clinical presentation is characterized by cytopenia, splenomegaly and unspecific symptoms as weakness and weight loss. The gold standard for the diagnosis of HCL is the bone marrow immunophenotyping by flow cytometry. This exam identifies a neoplastic population that usually expresses the antigens CD11c, CD25 and CD103. Recent studies have established that the BRAFV600E mutation is present in the vast majority of the patients with HCL. The pharmacological therapy widely used in this disease is the purine analogues, agents with high percentages of complete responses. Recent therapies include BRAF inhibitors and recombinant immunotoxins. The overall survival of HCL is usually high. In this paper all cases of HCL with a follow-up in IPO Lisbon between 2003 and 2015 were retrospectively analyzed. From this analysis we concluded that this population has a similar epidemiology when in comparison with the data found in scientific papers, with a classical clinical presentation and phenotype. The therapy response rates are excellent and the overall survival is long.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2016
Palavras-chave
Leucemia de células pilosas Hematologia