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Importance of genetic diagnosis for treatment and prognosis in acute lymphoblastic leukaemia (ALL) — a case report
, 1, 1, 1, 2
Affiliations- Student Scientific Society of the Department of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, Lublin, Poland
- Department of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, Lublin, Poland
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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.
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.
Keywords
acute lymphoblastic leukaemia; children; JAK/STAT pathway
About this articleTitle
Importance of genetic diagnosis for treatment and prognosis in acute lymphoblastic leukaemia (ALL) — a case report
Journal
Issue
Article type
Case report
Pages
103-106
Published online
2023-10-13
Page views
235
Article views/downloads
268
DOI
Bibliographic record
Medical Research Journal 2024;9(1):103-106.
Keywords
acute lymphoblastic leukaemia
children
JAK/STAT pathway
Authors
Mateusz Raniewicz
Maciej Dubaj
Karol Bigosiński
Aleksandra Dembowska
Małgorzata Mitura-Lesiuk
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