RESUMO
Background: Lysine methyltransferase 2A (KMT2A) rearrangements are commonly found in juvenile acute myeloid leukaemia (AML). Although distinct diseases, there is a known clinical overlap between KMT2A-rearranged AML and juvenile myelomonocytic leukaemia (JMML). Both occur in infancy or early childhood and present with abnormal monocytosis. Case Report. We report a case of a 20-month-old girl, who presented with lethargy, recurrent infections, bruising, and marked hepatosplenomegaly. JMML was suspected after initial work-up, revealing an abnormal monocytosis without blast excess on immunophenotyping. The additional cytogenetic and molecular diagnostics, revealing a KMT2A rearrangement, was decisive for the confirmation of AML. Conclusion: This case highlights the challenges of diagnosing KMT2A-rearranged monocytic AML and the importance of careful morphological assessment in partnership with cytogenetic and molecular diagnostics to distinguish between KMT2A-rearranged AML and JMML. Moreover, the emerging role of molecular monitoring in AML is highlighted.
Assuntos
Síndrome Linfoproliferativa Autoimune , Linfoma , Transtornos Linfoproliferativos , Síndrome Linfoproliferativa Autoimune/diagnóstico , Síndrome Linfoproliferativa Autoimune/patologia , Medula Óssea/patologia , Humanos , Linfoma/diagnóstico , Linfoma/patologia , Transtornos Linfoproliferativos/diagnóstico , Transtornos Linfoproliferativos/patologiaRESUMO
This article summarizes the recent development in the field of front-line unrelated donor transplantation for idiopathic aplastic anemia. The role of unrelated donor transplantation in the algorithm of pediatric aplastic anemia is reviewed and incorporates upfront unrelated donor transplantation. Newer strategies to delineate which children should receive immune suppression or transplantation are also discussed.