Novel Mutations in Acute Erythroid Leukemia-A Case Report with Review of Literature.

Background: Acute erythroid leukemia (AEL) accounts for 3% to 5% of AML patients. We present a case of AEL with whole exome sequencing (WES) data. Case Report: A 25-year-old male presented with easy fatiguability and fever on & off for 6 months. Complete blood counts revealed anemia, leukocytosis and thrombocytopenia. Peripheral blood smear showed numerous nucleated RBCs ~600nRBCs/ 100WBCs and no blastsBone marrow aspirate smears were markedly hemodiluted. Bone marrow biopsy was hypercellular for age with marked erythroid hyperplasia and predominance of early erythroid precursors. On immunohistochemistry, Glycophorin was diffusely positive, E-cadherin highlighted the early erythroid precursors and CD34 was negative. Possibility of AEL was considered.Total 77 AEL associated genes were taken out for functional association studies. Mutations already described in literature for AEL noted in this case were EPOR, JAK2, TP53, GATA 2, NPM1 and WT1. Novel mutations found in this case were ERCC6L2, PYGO1 and MYH9The patient left the hospital against medical advice and expired within a month of diagnosis. Conclusion: This case is interesting as AEL presented in a young male and PBS showed 600nRBCs/ 100 WBCs. Targeted sequencing can help to confirm the diagnosis of AEL especially in dilute marrows. Supplementary Information: The online version contains supplementary material available at 10.1007/s12288-024-01826-7.