Cytogenetic Characteristics and Treatment Outcomes of Congenital Acute Leukemia in Children in Kazakhstan: Retrospective Study

Saule Nukusheva 1 2, Almagul Saduova 1, Aman Berkinbay 1 * , Samal Aliyeva 1, Dana Zauytbek 1, Akerke Azanbai 1, Aygerim Ayazova 1, Araylym Abduali 1, Aiya Slamkhan 1, Anel Daber 1
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1 JSC «Asfendiyarov Kazakh National Medical University», Almaty, Kazakhstan
2 JSC Scientific Center of Pediatrics and Pediatric Surgery, Almaty, Republic of Kazakhstan
* Corresponding Author
J CLIN MED KAZ, Volume 23, Issue 2, pp. 51-56. https://doi.org/10.23950/jcmk/18326
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Author Contributions: Conceptualization, A. B., S. N., A. S., S. A.; methodology, A. B., S. N., A. S.; data curation, A. B., S. N., A. S.; writing – original draft preparation, A. B., S. N., A. S., S. A., D. Z., A. Az., A. Az., A. Ab., A. S., A. D.; writing – review and editing, A. B., S. N., A. S., S. A., D. Z., A. Az., A. Az., A. Ab., A. S., A. D. All authors have read and agreed to the published version of the manuscript.

Data availability statement: The corresponding author can provide the data supporting the study's conclusions upon request. 

Artificial Intelligence (AI) Disclosure Statement: The authors declare no AI Tools used for preparation of this work.

ABSTRACT

Background: Congenital acute leukemia (CAL) is a rare and aggressive hematologic malignancy diagnosed within the first 28 days of life. Cytogenetic abnormalities are essential for risk stratification and prognosis, but data on CAL in Kazakhstan remain limited.
Objective: To describe cytogenetic characteristics and evaluate their association with treatment outcomes in children with congenital and early infant acute leukemia treated at a tertiary pediatric center in Kazakhstan.
Methods: This retrospective single-center study included 33 children treated between 2018 and 2023 at the Scientific Center of Pediatrics and Pediatric Surgery (Almaty, Kazakhstan). Patients were classified as true CAL (diagnosis ≤28 days) or early infant leukemia (>28 days). Cytogenetic findings, treatment protocols, remission, relapse, mortality, treatment-related toxicity, and survival were analyzed. Overall survival (OS) and event-free survival (EFS) were assessed using the Kaplan–Meier method.
Results: Cytogenetic abnormalities were detected in 17/33 patients (51.5%). Favorable abnormalities included t(12;21), t(8;21), and inv(16), whereas unfavorable abnormalities included t(4;11)/KMT2A-rearranged leukemia and t(9;22). Complete remission after induction was achieved in 66.7% of patients and was significantly more frequent in the favorable cytogenetic group than in the unfavorable group (91.6% vs. 58.3%; p = 0.019). Treatment-related toxicity occurred in 42.4% of patients and was more common among those with non-complete remission (83.3% vs. 31.8%; p = 0.017). Estimated 2-year OS was 83.3% in the favorable cytogenetic group and 50.0% in the unfavorable group, while estimated 2-year EFS was 75.0% and 41.7%, respectively. Survival differed significantly according to cytogenetic risk (log-rank p = 0.032 for OS; p = 0.021 for EFS).
Conclusion: Congenital and early infant acute leukemia in this single-center cohort from Kazakhstan demonstrated substantial cytogenetic heterogeneity associated with remission and survival outcomes. Cytogenetic-based risk stratification and careful management of treatment-related toxicity may improve outcomes in this vulnerable patient population.
Keywords: congenital acute leukemia (CAL), cytogenetics, molecular stratification, chemotherapy, pediatric oncohematology, Kazakhstan.

CITATION

Nukusheva S, Saduova A, Berkinbay A, Aliyeva S, Zauytbek D, Azanbai A, et al. Cytogenetic Characteristics and Treatment Outcomes of Congenital Acute Leukemia in Children in Kazakhstan: Retrospective Study. J CLIN MED KAZ. 2026;23(2):51-6. https://doi.org/10.23950/jcmk/18326

REFERENCES

  • Green K, Tandon S, Ahmed M, Toscano W, O'Connor D, Ancliff P, Vora A, Bartram J, Samarasinghe S, Ghorashian S, Pavasovic V, Rao A. Congenital acute myeloid leukemia: challenges and lessons. A 15-year experience from the UK. Leuk Lymphoma. 2021;62(3):688–695. https://doi.org/10.1080/10428194.2020.1845335
  • Yang CX, Yang Y, Zhang FL, Wang DH, Bian QH, Zhou M, Zhou MX, Yang XY. Congenital leukemia: a case report and review of literature. World J Clin Cases. 2023;11(29):7227–7233. https://doi.org/10.12998/wjcc.v11.i29.7227
  • Brown PA. Neonatal leukemia. Clin Perinatol. 2021;48(1):15–33. https://doi.org/10.1016/j.clp.2020.11.002
  • Tsujimoto H, Kounami S, Mitani Y, Watanabe T, Takifuji K. Neonatal acute megakaryoblastic leukemia presenting with leukemia cutis and multiple intracranial lesions successfully treated with unrelated cord blood transplantation. Case Rep Hematol. 2015;2015:610581. https://doi.org/10.1155/2015/610581
  • Mussina K, Kuanova B, Syssoyev D, Gaipov A, Poddighe D, Shaikhyzada K, Aimyshev T, Galiyeva D. Epidemiology of pediatric hematological malignancies in Kazakhstan: data from Unified National Electronic Healthcare System 2014–2021. Eur J Pediatr. 2024;183(4):1683–1691. https://doi.org/10.1007/s00431-023-05412-3
  • Yamato G, Park MJ, Sotomatsu M, Kaburagi T, Maruyama K, Kobayashi T, Nishi A, Sameshima K, Ohki K, Hayashi Y. Clinical features of 35 Down syndrome patients with transient abnormal myelopoiesis at a single institution. Int J Hematol. 2021;113(5):662–667. https://doi.org/10.1007/s12185-020-03066-7
  • Ekmen N, Can G, Sasani H. Acute lymphoid leukemia developing in the course of Crohn's disease: are there any guilty agents? J Clin Med Kaz. 2021;18(3):65-67. https://doi.org/10.23950/jcmk/10924
  • Bekniyazova A, Maidan A, Mishutin I, Bakhytzhan S, Yessenbayeva G. Combined use of inhaled and intravenous colistin in a patient with acute lymphoblastic leukemia complicated by multi-organ failure and sepsis: a case report. J Clin Med Kaz. 2025;22(3):93-97. https://doi.org/10.23950/jcmk/16366