Caracterização das alterações citogenéticas e classificação de risco das leucemias mieloides agudas / Characterization of cytoogenetic changes and risk classification of acute myeloid leukemia

Amanda Shinzato, Leniza Pola Silva, Verônica Ramos Souza Oliveira, Adelson Alves, Elíseo Joji Sekiya

Abstract


A Leucemia Mielóide Aguda (LMA) é caracterizada pela proliferação clonal de blastos derivados de células-tronco hematopoiéticas na medula óssea, sendo um grupo heterogêneo de doenças neoplásicas com grande variabilidade clínica e terapêutica. Fatores como idade, alterações citogenéticas e moleculares presentes ao diagnóstico são as principais variáveis relacionadas ao prognóstico do LMA. Neste estudo foram caracterizadas como mudanças citogenéticas e a evolução clínica de pacientes com LMA atendidos em um serviço de oncohematologia de São Paulo analisando retrospectivamente os cariótipos realizados entre 2014 e 2018 no laboratório de Citogenética da TECHLIFE. Foram analisadas 239, sendo 190 com resultado normal e 49 alterados (20,5%), 10 com idade acima de 60 anos (> 67 e <94) e 39 abaixo de 60 anos (> 1 e <59). Dez casos alterados foram classificados como bom prognóstico, t (8; 21), t (15; 17) e inv (16), dois casos relacionados a prognóstico intermediário (+8) e 37 casos com prognóstico ruim ou indeterminado setor cariótipos complexo, com trissomias dos cromossomos 8, 9, 11, 15, monossomias 2, 7, 17, 22 e tetraploidia. Dentre as mudanças seletivas com prognóstico ruim, foram observadas translocações entre os cromossomos 7 e 15, 8 e 21, 11 e 19, 11 e 17, 15 e 17, 15 e 21 analisando e cariótipos complexos com translocações 1 e 13, 3 e 12 , 11 e 19, deleções 6q, 9q, 11q e 20q cheque e cariótipos complexos com deleções em 1p, 1q, 2p, 3q, 5q, 6q, 7p, 9q, 11q, 12q, e 15q, inversões dos cromossomos 16 e 17, material adicional e formação de isocromossomo 7q. Faça grupo acima de 60 anos, dois pacientes com mudanças classificadas como de prognóstico bom estão vivos e dos 8 com classificação de prognóstico ruim, 63% foram a óbito. Nenhum grupo de pacientes com menos de 60 anos classificados com prognóstico bom, intermediário e ruim 75%, 100% e 62% permanecer vivos, respectivamente. O aperfeiçoamento das técnicas genômicas no monitoramento de mutações e rearranjos gênicos relevantes na LMA têm evoluído continuamente, apesar disto, a importância do cariótipo persiste e não se restringe apenas ao auxílio diagnóstico, classificação e definição prognóstica, podendo fornecer informações adicionais na escolha da melhor opção terapia e no monitoramento evolutivo. 100% e 62% permanecem vivos, respectivamente. O aperfeiçoamento das técnicas genômicas no monitoramento de mutações e rearranjos gênicos relevantes na LMA têm evoluído continuamente, apesar disto, a importância do cariótipo persiste e não se restringe apenas ao auxílio diagnóstico, classificação e definição prognóstica, podendo fornecer informações adicionais na escolha da melhor opção terapia e no monitoramento evolutivo. 100% e 62% permanecem vivos, respectivamente. O aperfeiçoamento das técnicas genômicas no monitoramento de mutações e rearranjos gênicos relevantes na LMA têm evoluído continuamente, apesar disto, a importância do cariótipo persiste e não se restringe apenas ao auxílio diagnóstico, classificação e definição prognóstica, podendo fornecer informações adicionais na escolha da melhor opção terapia e no monitoramento evolutivo.


Keywords


Citogenética, Leucemia Mielóide Aguda, Prognóstico, Cariótipo.

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DOI: https://doi.org/10.34117/bjdv6n9-082

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