RESUMO
La leucemia mieloide aguda es una neoplasia con una elevada letalidad, con resultados inferiores en nuestro país respecto a la experiencia internacional publicada, posicionándola como una prioridad desde el punto de vista de salud pública oncológica. Actualmente, para su diagnóstico y estratificación se dispone de citología, inmunofenotipo, cariograma y escasas traslocaciones/mutaciones por biología molecular. Esta aproximación diagnóstica es insuficiente, ya que nos permite clasificar menos del 50% de los pacientes en un grupo específico y, por lo tanto, la elección de la terapia de consolidación se realiza con escasa información biológica. El rol de la morfología y de la citogenética progresivamente pierden relevancia pronóstica con respecto a la biología molecular, y la secuenciación de siguiente generación se ha posicionado como un elemento clave para el diagnóstico y estratificación de riesgo de estos pacientes. Además, la pesquisa de mutaciones germinales ha ido adquiriendo mayor relevancia, aumentando su frecuencia de detección e influyendo en la toma de decisiones respecto al tratamiento y en la selección de donante emparentado para un trasplante alogénico. En esta revisión se realiza una actualización del diagnóstico integrado de pacientes con leucemia mieloide aguda, a la luz de las nuevas clasificaciones diagnósticas (OMS 2022 e ICC 2022) y pronósticas (ELN 2022) y se propone un algoritmo a considerar para su implementación. Es perentorio como país invertir en nuevas tecnologías diagnósticas para mejorar el pronóstico de nuestros pacientes.
Acute myeloid leukemia is a neoplasm with a high lethality, with alarming results in our country, positioning it as a priority from the point of view of oncological public health. Cytology, immunophenotype, karyogram, and a few translocations/mutations by molecular biology are currently available for diagnosis and stratification. This diagnostic approach is insufficient since it allows classifying less than 50% of patients in a specific group. Therefore, consolidation therapy is selected with little biological information. The role of morphology and cytogenetics is progressively losing prognostic weight with respect to molecular biology, and next-generation sequencing has positioned itself as a key element for diagnosing our patients. In addition, the investigation of germline mutations is acquiring greater relevance, increasing its detection frequency and influencing decision-making regarding treatment and selecting a related donor for an allogeneic transplant. In this review, an update of the integrated diagnosis of patients with acute myeloid leukemia is carried out in light of the new diagnostic (WHO 2022 and ICC 2022), and prognostic classifications (ELN 2022). We propose an algorithm for integrated diagnosis to be considered for its implementation. It is imperative as a country to invest in new diagnostic technologies to improve the prognosis of our patients.
Assuntos
Humanos , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/terapia , Prognóstico , AlgoritmosRESUMO
Acute myeloid leukemia is a neoplasm with a high lethality, with alarming results in our country, positioning it as a priority from the point of view of oncological public health. Cytology, immunophenotype, karyogram, and a few translocations/mutations by molecular biology are currently available for diagnosis and stratification. This diagnostic approach is insufficient since it allows classifying less than 50% of patients in a specific group. Therefore, consolidation therapy is selected with little biological information. The role of morphology and cytogenetics is progressively losing prognostic weight with respect to molecular biology, and next-generation sequencing has positioned itself as a key element for diagnosing our patients. In addition, the investigation of germline mutations is acquiring greater relevance, increasing its detection frequency and influencing decision-making regarding treatment and selecting a related donor for an allogeneic transplant. In this review, an update of the integrated diagnosis of patients with acute myeloid leukemia is carried out in light of the new diagnostic (WHO 2022 and ICC 2022), and prognostic classifications (ELN 2022). We propose an algorithm for integrated diagnosis to be considered for its implementation. It is imperative as a country to invest in new diagnostic technologies to improve the prognosis of our patients.