Unlocking the Genetic Vault of Acute Myeloid Leukaemia: A Series of Five Cases

Acute Myeloid Leukaemia (AML) is a rare disease in children, accounting for approximately 15-20% of paediatric leukaemic cases. Acute Lymphoblastic Leukaemia (ALL) is the most common cause of paediatric leukaemia with a better prognosis. AML is the leading type of paediatric cancer by its relatively high mortality rate, as it is a genetically heterogeneous, aggressive haematological malignancy. AML results from a series of genetic changes in a haematopoietic precursor cell, altering normal haematopoietic growth and differentiation and leading to the accumulation of large numbers of abnormal, immature myeloid cells in the bone marrow and peripheral blood. Genetic abnormalities play a critical role in leukaemogenesis, influencing disease classification, risk stratification and treatment response. This case series presents five paediatric cases of AML, each with distinct clinical, morphological, immunophenotypic and genetic features. Case 1 was diagnosed as AML M7 with a rare t(1;12)(q21;q24) translocation. Case 2, an infant with AML M4 and CBFB-MYH11 fusion, succumbed to sepsis and refractory shock. Case 3, also AML M4, showed FLT3-TKD and IDH1/2 mutations with intermediate prognosis. Case 4, diagnosed as AML M2/M3 variant, had severe infectious complications but attained Minimal Residual Disease (MRD) negativity. Case 5, an AML M4 with multiple mutations including CBFB-MYH11, NPM1, FLT3, and IDH1/2, also achieved remission. These cases highlight the heterogeneity and complexity of paediatric AML.