Congenital leukemia: a case report and review of literature

Abstract

This thesis provides a comprehensive review of congenital leukemia (CL), a rare and aggressive hematologic malignancy that presents within the first four weeks of life and is frequently associated with KMT2A gene rearrangements. It explores the epidemiology, risk factors, molecular pathogenesis, clinical presentation, diagnosis, differential diagnosis, and current treatment approaches for congenital leukemia. Special emphasis is placed on the role of genetic alterations, particularly KMT2A rearrangements and molecular pathways involved in neonatal leukemogenesis. The thesis also presents a rare neonatal case of Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) with KMT2A involvement, highlighting the significant diagnostic challenges posed by congenital leukemia-like disorders. Through a review of the literature and detailed case analysis, the study emphasizes the importance of immunophenotyping, cytogenetics, and molecular investigations in establishing an accurate diagnosis. Ultimately, the thesis underscores the need for continued research and the development of more effective and less toxic therapies to improve outcomes in neonates with hematologic malignancies.