Cytogenetic Risk Profile of Paediatric Acute Lymphoblastic Leukaemia in a Single-Centre Cohort From Western India: Frequency of BCR::ABL1, Hypodiploidy and Co-Occurring Chromosomal Abnormalities and their Association with Induction Response

Background: Risk-adapted therapy for childhood acute lymphoblastic leukaemia (ALL) rests on cytogenetic distributions described largely in Western trial cohorts. Indian series report variable lesion frequencies, but most rely on G-banding alone and seldom record co-occurring abnormalities. We described the cytogenetic risk profile of paediatric ALL at a single centre in western India and examined its association with induction response.Methods: Single-centre retrospective cohort study (December 2023 to June 2025). Fifty-four children aged 16 years or younger with newly diagnosed ALL underwent G-banded karyotyping and interphase fluorescence in situ hybridisation (FISH) for ETV6::RUNX1, BCR::ABL1 and KMT2A rearrangement. Co-occurring abnormalities were recorded as composite findings, and children were assigned to good, intermediate or poor cytogenetic-risk groups by a pre-specified lesion-based rule applied without reference to outcome. Associations with end-of-induction morphological response were examined by Fisher exact test; proportions are given with 95% confidence intervals (CI).Results: Cytogenetic risk was good in 22 (40.7%; 95% CI 28.7–54.0), intermediate in 15 (27.8%; 17.6–40.9) and poor in 17 (31.5%; 20.7–44.7). BCR::ABL1 was detected in 8 (14.8%), hypodiploidy in 7 (13.0%), KMT2A rearrangement in 5 (9.3%) and t(1;19) in 7 (13.0%); 7 (13.0%) had no detectable abnormality. Thirteen of 16 high-hyperdiploid cases (81%) had a co-detected additional abnormality, most often ETV6::RUNX1. Complete remission was achieved by 19/22 (86.4%), 12/15 (80.0%) and 7/17 (41.2%) children in the good-, intermediate- and poor-risk groups (p<0.001, unadjusted); induction failure occurred in 1, 0 and 9, including six of seven hypodiploid children, whereas both KMT2A-rearranged T-ALL cases achieved remission. Conclusion: BCR::ABL1-positive and hypodiploid ALL were more frequent than in published Western reference ranges,co-occurring abnormalities were common, and poor-risk cytogenetics, hypodiploidy in particular, was strongly associatedwith induction failure. These single-centre observations are hypothesis-generating and require confirmation in multicentrestudies with uniform treatment, extended genomic testing and survival endpoints.

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Journal
International Journal of Contemporary Pathology
Published
2026-10-31
DOI
https://doi.org/10.37506/4q5wnw35
Primary Topic
Acute Lymphoblastic Leukemia research
Type
article
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article

Cytogenetic Risk Profile of Paediatric Acute Lymphoblastic Leukaemia in a Single-Centre Cohort From Western India: Frequency of BCR::ABL1, Hypodiploidy and Co-Occurring Chromosomal Abnormalities and their Association with Induction Response

Bharadwaj Reena, Doshi Preeti, Lakhe Rachana, Umare Shefalika
International Journal of Contemporary Pathology
Acute Lymphoblastic Leukemia research
article

Cytogenetic Risk Profile of Paediatric Acute Lymphoblastic Leukaemia in a Single-Centre Cohort From Western India: Frequency of BCR::ABL1, Hypodiploidy and Co-Occurring Chromosomal Abnormalities and their Association with Induction Response

Bharadwaj Reena, Doshi Preeti, Lakhe Rachana, Umare Shefalika
article en

Abstract

Background: Risk-adapted therapy for childhood acute lymphoblastic leukaemia (ALL) rests on cytogenetic distributions described largely in Western trial cohorts. Indian series report variable lesion frequencies, but most rely on G-banding alone and seldom record co-occurring abnormalities. We described the cytogenetic risk profile of paediatric ALL at a single centre in western India and examined its association with induction response.Methods: Single-centre retrospective cohort study (December 2023 to June 2025). Fifty-four children aged 16 years or younger with newly diagnosed ALL underwent G-banded karyotyping and interphase fluorescence in situ hybridisation (FISH) for ETV6::RUNX1, BCR::ABL1 and KMT2A rearrangement. Co-occurring abnormalities were recorded as composite findings, and children were assigned to good, intermediate or poor cytogenetic-risk groups by a pre-specified lesion-based rule applied without reference to outcome. Associations with end-of-induction morphological response were examined by Fisher exact test; proportions are given with 95% confidence intervals (CI).Results: Cytogenetic risk was good in 22 (40.7%; 95% CI 28.7–54.0), intermediate in 15 (27.8%; 17.6–40.9) and poor in 17 (31.5%; 20.7–44.7). BCR::ABL1 was detected in 8 (14.8%), hypodiploidy in 7 (13.0%), KMT2A rearrangement in 5 (9.3%) and t(1;19) in 7 (13.0%); 7 (13.0%) had no detectable abnormality. Thirteen of 16 high-hyperdiploid cases (81%) had a co-detected additional abnormality, most often ETV6::RUNX1. Complete remission was achieved by 19/22 (86.4%), 12/15 (80.0%) and 7/17 (41.2%) children in the good-, intermediate- and poor-risk groups (p<0.001, unadjusted); induction failure occurred in 1, 0 and 9, including six of seven hypodiploid children, whereas both KMT2A-rearranged T-ALL cases achieved remission. Conclusion: BCR::ABL1-positive and hypodiploid ALL were more frequent than in published Western reference ranges,co-occurring abnormalities were common, and poor-risk cytogenetics, hypodiploidy in particular, was strongly associatedwith induction failure. These single-centre observations are hypothesis-generating and require confirmation in multicentrestudies with uniform treatment, extended genomic testing and survival endpoints.

International Journal of Contemporary PathologyVol. 12(2)
Bharati Vidyapeeth (Deemed to be University) (IN)
Openalex Percentile: Top 10%
Acute Lymphoblastic Leukemia research
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