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Factores de prognóstico na leucemia mielóide aguda : o que há de novo
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Desde há algum tempo que as alterações citogenéticas se tornaram marcadores diagnósticos e prognósticos bem estabelecidos. Nos tempos mais recentes, com os avanços nos testes de sequenciamento, houve um aumento do conhecimento da heterogeneidade molecular da leucemia mielóide aguda (LMA). O que se traduziu numa melhor classificação da doença, na estratificação do seu prognóstico e nos cuidados clínicos individualizados para cada doente. Desta forma, várias alterações citogenéticas e moleculares foram incluídas na actualização da classificação da LMA da OMS, em 2016, e no relatório European Leukemia Net (ELN), em 2017.
A LMA é caracterizada por múltiplas mutações somaticamente adquiridas que afetam genes de diferentes categorias funcionais, tendo uma arquitetura clonal complexa. Existem várias mutações recorrentes que são sistematicamente associadas a LMA, assim como genes que apenas mais recentemente têm sido implicados na leucemogénese. Com as constantes descobertas que se têm verificado, as implicações dos critérios de risco pré-tratamento como fatores prognósticos estão constantemente sob avaliação.
Assim, continuam a ser realizados estudos com o objectivo de se compreender melhor alguns mecanismos de acção e, também de modo a que se descubram outras alterações que possam afectar o prognóstico. Nesta revisão, fez-se um compêndio do que há de novo em relação aos factores de prognóstico da LMA, com maior incidência ao nível das alterações genéticas uma vez que estas são, actualmente, o factor de prognóstico independente mais importante.
For some time cytogenetic changes have become well established diagnostic and prognosis markers. In recent times, with advances in sequencing tests, there has been an increase in the knowledge of the molecular heterogeneity of acute myeloid leukemia (AML). Which resulted in better classification of the disease, stratification of its prognosis and individualized clinical care for each patient. Thus, several cytogenetic and molecular changes were included in the update of the WHO AML classification in 2016 and in the European Leukemia Net report (ELN) in 2017. AML is characterized by multiple somatically acquired mutations that affect genes of different functional categories, having a complex clonal architecture. There are several recurrent mutations that are systematically associated with AML, as well as genes that have only recently been implicated in leukemogenesis. With the constant discoveries that have taken place, the implications of the pre-treatment risk criteria as prognostic factors are constantly under evaluation. Thus, studies are still carried out in order to better understand some mechanisms of action and also in order to discover other changes that may affect the prognosis. In this review, a summary was made of what is new in relation to the prognostic factors of AML, with a greater incidence in the genetic alterations because these are currently the most important independent prognostic factor.
For some time cytogenetic changes have become well established diagnostic and prognosis markers. In recent times, with advances in sequencing tests, there has been an increase in the knowledge of the molecular heterogeneity of acute myeloid leukemia (AML). Which resulted in better classification of the disease, stratification of its prognosis and individualized clinical care for each patient. Thus, several cytogenetic and molecular changes were included in the update of the WHO AML classification in 2016 and in the European Leukemia Net report (ELN) in 2017. AML is characterized by multiple somatically acquired mutations that affect genes of different functional categories, having a complex clonal architecture. There are several recurrent mutations that are systematically associated with AML, as well as genes that have only recently been implicated in leukemogenesis. With the constant discoveries that have taken place, the implications of the pre-treatment risk criteria as prognostic factors are constantly under evaluation. Thus, studies are still carried out in order to better understand some mechanisms of action and also in order to discover other changes that may affect the prognosis. In this review, a summary was made of what is new in relation to the prognostic factors of AML, with a greater incidence in the genetic alterations because these are currently the most important independent prognostic factor.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2018
Palavras-chave
Leucemia mielóide aguda Prognóstico Mutações Genes Hematologia