DOI: 10.25259/asjo_39_2025 ISSN: 2455-4618
Infant with RAM acute megakaryoblastic leukemia (AMKL) immunophenotype and CBFA2T3::GLIS2 fusion: A case report
Mansi Mehrotra, Twinkle Vikram Singh Khanka, Ravikiran Narayansing Pawar, Sankalp M Sancheti, Nidhi DhariwalAcute myeloid leukemia (AML) in pediatric patients is rare compared to adults. Recent updates in the World Health Organization classification (WHO). Indicate that the genetic signatures defined in adult AMLs are classified into different categories. The genetic landscape in pediatric AMLs is also characterized by different fusions, mainly involving the more common translocation t (11; x), resulting in KMT2A rearrangements, and mutations defined by the presence of DNMT3A and other splicing factor genes. Core binding factors are evenly distributed across all age groups. Here, we describe a case of a rare RAM phenotype with acute megakaryoblastic leukemia (AMKL), characterized by a disease-defining fusion and poorer outcomes.