Evidence map›Paper›PMID 40805197›Full record

ArticleCancers2025

Loss of Heterozygosity in Pediatric Acute Lymphoblastic Leukemia and Its Prognostic Impact: A Retrospective Study.

Borys Styka, Gabriela Ręka, Aleksandra Ozygała, Mariola Janiszewska, Magdalena Stelmach, Paulina Skowera, Zuzanna Urbańska, Monika Lejman

Abstract read
In one paragraph

Article in Cancers, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Borys StykaIndependent Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland.
Gabriela RękaIndependent Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland.ORCID 0000-0001-9728-5281
Aleksandra OzygałaIndependent Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland.
Mariola JaniszewskaDepartment of Medical Informatics and Statistics with e-Health Lab, Medical University of Lublin, 20-059 Lublin, Poland.ORCID 0000-0002-7116-6783
Magdalena StelmachIndependent Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland.
Paulina SkoweraIndependent Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland.
Zuzanna UrbańskaDepartment of Genetic Predisposition to Cancer, Medical University of Lodz, 92-216 Lodz, Poland.
Monika LejmanIndependent Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland.ORCID 0000-0002-8760-0775

Funding

Medical University of Lublin DS411 and GI13
6 · The paper itself

Abstract

backgroundIn childhood acute lymphoblastic leukemia (ALL), in addition to classical chromosomal abnormalities, loss of heterozygosity (LOH), including copy-neutral LOH, is also observed. While LOH has been described in the literature, its clinical relevance in pediatric ALL remains unclear. The aim of this study is to identify and analyze patterns of LOH, assess their frequency, and evaluate their association with clinical characteristics and early treatment response during the induction phase of the ALL protocol.

methodsThe study included 853 pediatric ALL patients, of whom 120 had B-ALL LOH+ and 58 had T-ALL LOH+. LOH was analyzed using CytoScan HD SNP microarrays. Patients were stratified using multiple correspondence analysis (MCA) and hierarchical clustering on principal components (HCPC), which identified three genetically and clinically distinct clusters.

resultsIn B-ALL, two clusters with extensive LOH-particularly involving chromosome 9-were associated with poor prognosis and suboptimal response to therapy. In contrast, Cluster 2, characterized by CDKN2A duplication and rare LOH, showed a favorable clinical course. In T-ALL, Cluster 1 had LOH in CDKN2A but favorable outcomes; Cluster 2 exhibited biallelic CDKN2A deletion and aggressive disease; Cluster 3 lacked CDKN2A alterations and showed a genetically stable profile. LOH was common on chromosomes not typically affected by trisomy and rare on those gained.

conclusionsOur study indicates that LOH profiling can positively influence patient stratification by identifying high-risk subgroups, inform prognosis by highlighting unfavorable genetic alterations, and help predict poor treatment response in specific clinical profiles.

Indexed as

CDKN2ACDKN2Bhyperdiploidyminimal residual diseasemolecular karyotypepediatric oncologySNP arrays

Identifiers

PMID40805197
PMCPMC12346631

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