Genetic profiling in paediatric Acute Leukemias

Acute leukaemia is the most common childhood cancer, making up about one-third of all paediatric cancers. It is a blood disorder that disrupts normal development of blood cells, leading to an overproduction of immature cells called blasts. A diagnosis is made when blasts make up more than 25% of bone marrow cells. The most common type in children is Acute Lymphoblastic Leukaemia (ALL), especially the B-cell subtype.

In India, around 101.4 cases per million children occur annually, with about 387 cases reported yearly in North India. Acute Myeloid Leukaemia (AML) is less common in children, accounting for 15–20% of cases. The M3 subtype of AML, known as Acute Promyelocytic Leukaemia, is rare but has high cure rates. Infant AML is also rare, with 1.5 cases per 100,000 infants each year.

Genetic mutations play a major role in acute leukaemia, though their exact causes are unknown. In Indian children, certain genetic alterations such as BCR-ABL, TEL-AML1, ETV6-RUNX1, MLL, FLT3, TP53, NRAS, KRAS, and NOTCH1 are more frequently seen. These genes are significant due to their prevalence, relevance to treatment, and their impact on disease outcome.

At LN Hospital, about 30 paediatric leukaemia cases are reported each year. This study aims to analyze genetic abnormalities in confirmed cases using bone marrow samples, to better understand the genetic profile and how it relates to treatment outcomes.