Resumen
Around 30% of children with Down Syndrome (DS) will develop Transient Abnormal Myelopoiesis (TAM) and 20% of them will progress to Acute Myeloid Leukemia (AML), mostly Megakaryoblastic Leukemia (AMKL). The optimal balance between treatment intensity and treatment-related toxicity has not yet been defined; neither the prognostic factors that determine the risk of developing AML nor the outcome. The aims of our retrospective study were to analyze the demographic/biological features of this population, identify possible risk factors and the optimal treatment. We observed that early intervention in TAM is effective to prevent a dismal outcome. The strongest poor-prognostic factor of DS-AML was sporadic DS-AML (non-AMKL immunophenotype), as well as complex karyotype and young age. Classical Myeloid Leukemia associated with DS (ML-DS) good outcome is mainly related to their low relapse rate. Even though the augmented sensitivity to chemotherapy seen in DS patients must be kept in mind, our data do not support the omission of high doses of cytarabine in ML-DS.