Association of B-Lineage Lymphoblastic Leukaemia Gene Polymorphisms with Poor Prognostic Features
Bazarbayeva A. Manzhuova L. Svyatova G. Berezina G. Sarsekbayeva F. Kamalova D.
2024Asian Pacific Organization for Cancer Prevention
Asian Pacific Journal of Cancer Prevention
2024#25Issue 124339 - 4349 pp.
Objective: Of this study was to analyse the correlation of gene polymorphisms with clinical and laboratory data of paediatric patients with B-lineage acute lymphoblastic leukaemia with prognostically unfavourable features. Methods: A study of 200 children with B-lineage acute lymphoblastic leukaemia (B-ALL) treated with polychemotherapy programmes was conducted. Analysis by sex revealed a statistically insignificant predominance of the group of boys over girls (54%). The mean age of the subjects was 9.3±0.2 years. Genotyping of polymorphic loci was performed using TaqMan method of single site-specific amplification and genotyping. The data of patients with initial prognostically unfavourable clinical and laboratory data in the form of initial leukocytosis from 50 to 99 thousand – 10 (5%), over 100 thousand – 16 (8%), initial CNS lesion in the form of neuroleukaemia – 5 (2.5%), initial splenomegaly more than 6 cm – 12 (6%); patients with poor response to therapy, having absolute number of blast cells in peripheral blood over 1,000 on day 8 of treatment according to the protocol (response to prednisolone prophase) – 13 (7%), with unsatisfactory response to treatment on Day 15 – 40 patients (20%) and on Day 33 – 4 children (2%); also patients who developed relapse of the disease – 17 (9%). Results: According to the findings, of all 24 gene variants, 13 variants (54%), namely, HLA – rs6457327, TNF – rs1800630 and rs2229094, GATA3 – rs3824662, TP53 – rs1042522, CASP9 – rs4661636, CASP8 – rs10505477, CEBPE – rs2239633; PIP4K2A – rs7088318, CASC8 – rs10505477, IRF4 – rs87207, CYP1A1 – rs4646903 and rs7089424 of ARID5B gene were found to be associated with B-ALL and unfavourable prognostic features. Conclusions: The findings of this study revealed significant associations of polymorphic genetic variants, which may serve as a basis for the development of effective methods for predicting the risk of relapse development and the timeliness of intensification of B-ALL treatment. Prompt genetic counselling of children with identified unfavourable genotypes of the investigated gene polymorphisms will make it possible to predict the development of relapse, resistance and/or poor response to B-ALL treatment, and to propose an individual strategy for monitoring childrens health in the short and long term.
biomarkers , disease prediction , gene polymorphisms , Genetic predisposition , genomic mutations , leukaemia
Text of the article Перейти на текст статьи
Department of Science and Postgraduate Education, Scientific Center of Pediatrics and Pediatric Surgery, Almaty, Kazakhstan
Scientific Center of Pediatrics and Pediatric Surgery, Almaty, Kazakhstan
Republican Medical and Genetic Counselling Centre, Scientific Center for Obstetrics, Gynecology and Perinatology, Almaty, Kazakhstan
Department of Strategic Development and Science, Scientific Center for Obstetrics, Gynecology and Perinatology, Almaty, Kazakhstan
Department of Biostatistics, Scientific Center of Pediatrics and Pediatric Surgery, Almaty, Kazakhstan
Department of Science and Postgraduate Education
Scientific Center of Pediatrics and Pediatric Surgery
Republican Medical and Genetic Counselling Centre
Department of Strategic Development and Science
Department of Biostatistics
10 лет помогаем публиковать статьи Международный издатель
Книга Публикация научной статьи Волощук 2026 Book Publication of a scientific article 2026