Vol 9, No 1 (2024)
Case report
Published online: 2023-10-13

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

Mateusz Raniewicz1, Maciej Dubaj1, Karol Bigosiński1, Aleksandra Dembowska1, Małgorzata Mitura-Lesiuk2
Medical Research Journal 2024;9(1):103-106.

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.

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