Importance of genetic diagnosis for treatment and prognosis in acute lymphoblastic leukaemia (ALL) — a case report

Abstract

Acute lymphoblastic leukaemia (ALL) is the most common malignancy among children. It originates from over-proliferating immature lymphoid cells called lymphoblasts. Modern genetic studies have shown that the aetiology of ALL is correlated with numerous chromosomal aberrations, including activating mutation of the JAK/STAT pathway. This pathway is responsible for regulating the transmission of signals from extracellular cytokines to the nucleus of cells, regulating their growth, differentiation and immune response. With proper patient diagnosis, it is possible to correctly classify the genetic subtypes of ALL, allowing more effective therapies to be introduced. The following study presents the importance of genetic diagnosis for the treatment of a paediatric patient with ALL with the above mutation in the genome.