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

open access

Page views 273
Article views/downloads 299
Get Citation

Connect on Social Media

Connect on Social Media

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.


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.

Article available in PDF format

View PDF Download PDF file


  1. Lejman M, Chałupnik A, Chilimoniuk Z, et al. Genetic biomarkers and their clinical implications in b-cell acute lymphoblastic leukemia in children. Int J Mol Sci. 2022; 23(5).
  2. Nordlund J, Syvänen AC. Epigenetics in pediatric acute lymphoblastic leukemia. Semin Cancer Biol. 2018; 51: 129–138.
  3. Bhojwani D, Yang JJ, Pui CH. Biology of childhood acute lymphoblastic leukemia. Pediatr Clin North Am. 2015; 62(1): 47–60.
  4. Inaba H, Mullighan CG. Pediatric acute lymphoblastic leukemia. Haematologica. 2020; 105(11): 2524–2539.
  5. Norvilas R, Dirse V, Semaskeviciene R, et al. Low incidence of ABL-class and JAK-STAT signaling pathway alterations in uniformly treated pediatric and adult B-cell acute lymphoblastic leukemia patients using MRD risk-directed approach - a population-based study. BMC Cancer. 2021; 21(1): 326.
  6. Hu X, Li J, Fu M, et al. The JAK/STAT signaling pathway: from bench to clinic. Signal Transduct Target Ther. 2021; 6(1): 402.
  7. Chiaretti S, Messina M, Foà R. BCR/ABL1-like acute lymphoblastic leukemia: How to diagnose and treat? Cancer. 2019; 125(2): 194–204.
  8. Malard F, Mohty M. Acute lymphoblastic leukaemia. Lancet. 2020; 395(10230): 1146–1162.
  9. Leak Bryant A, Lee Walton A, Shaw-Kokot J, et al. Patient-reported symptoms and quality of life 
in adults with acute leukemia: a systematic review. Oncol Nurs Forum. 2015; 42(2): E91–E9E101.
  10. Malard F, Mohty M. Acute lymphoblastic leukaemia. Lancet. 2020; 395(10230): 1146–1162.
  11. Pui CH, Roberts KG, Yang JJ, et al. Philadelphia chromosome-like acute lymphoblastic leukemia. Clin Lymphoma Myeloma Leuk. 2017; 17(8): 464–470.
  12. Tran TH, Loh ML. Ph-like acute lymphoblastic leukemia. Hematology Am Soc Hematol Educ Program. 2016; 2016(1): 561–566.
  13. Ostra białaczka limfoblastyczna (ALL) – objawy, diagnostyka, leczenie. https://przyladeknadziei.pl/ostra-bialaczka-limfoblastyczna-all-objawy-diagnostyka-leczenie/ (13.08.2023).
  14. Xu H, Yu H, Jin R, et al. Genetic and epigenetic targeting therapy for pediatric acute lymphoblastic leukemia. Cells. 2021; 10(12): 3349.
  15. Hu M, Liu R, Li J, et al. Clinical features and prognosis of pediatric acute lymphocytic leukemia with JAK-STAT pathway genetic abnormalities: a case series. Ann Hematol. 2023; 102(9): 2445–2457.
  16. Diamond CA, Matthay KK. Childhood acute lymphoblastic leukemia. Pediatr Ann. 1988; 17(3): 156–161; 164–170.