Acute erythroid leukemia in a child: insights from a rare case

Acute erythroid leukemia (AEL) is an extremely rare subtype of acute myeloid leukemia (AML), accounting for less than 1% of AML cases. It predominantly affects older adults and is characterized by a proliferation of erythroid precursors, typically constituting >80% of bone marrow components, with ≥30% being proerythroblasts and often associated with poor prognosis. We present the case of a 15-year-old female who developed de novo AEL, an unusual presentation in a pediatric patient. The patient presented with fever, increased vaginal bleeding, leukocytosis, severe anemia, and 87% erythroid cells in peripheral blood smear. Bone marrow analysis revealed 90% erythroid precursors, 60% of which were proerythroblasts. Immunophenotyping confirmed AEL, showing positive expression of CD71, CD235a, CD36, and negative myeloid markers. Next-generation sequencing identified mutations in ARID1A and ATM genes, without TP53 mutation. The patient was treated with AML induction therapy (7+3 regimen). This report highlights a rare case of de novo AEL in a pediatric patient, emphasizing its clinical presentation, the diagnostic challenges posed by its rare occurrence and overlapping features with other hematological disorders, and the critical role of a comprehensive diagnostic evaluation, including morphology, flow cytometry, and genetic studies, in achieving timely diagnosis and appropriate management. Further research is needed to understand the molecular landscape better and identify optimal therapeutic strategies for pediatric AEL.