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Article

Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia.

The Journal of pathology - 1 Oct 2026

Bekő Anna, Péterffy Borbála, Hughes Alex, Jakab Janka Sára, Haltrich Irén, Árvai Kristóf Balázs, Bedics Gábor, Csonka Katalin, Papp Gergő, Kapczár Dóra, Bohusné Barta Bettina Aranka, Hegyi Lajos László, Szalóki Gábor, Barna Gábor, Matolcsy András, Egyed Bálint, Hevessy Zsuzsanna, Benard-Slagter Anne, Palit Sander, Savola Suvi, Bödör Csaba, Alpár Donát

Abstract excerpt

Reliable detection of structural variants (SVs) and copy number variations (CNVs) is crucial in the contemporary diagnostics of pediatric B-cell acute lymphoblastic leukemia (B-ALL). However, limitations of commonly used conventional and molecular cytogenetic methods may hinder the accurate genetic characterization of patients. Optical genome mapping (OGM) offers a reliable alternative by enabling...

Read the complete abstract on PubMed

Topics

Humans
DNA Copy Number Variations
In Situ Hybridization, Fluorescence
Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Male

Precursor Cell Lymphoblastic Leukemia-Lymphoma

Karyotyping

Chromosome Mapping

ETS Translocation Variant 6 Protein

Child, Preschool

Genetic Predisposition to Disease

Core Binding Factor Alpha 2 Subunit

Repressor Proteins

Infant

Proto-Oncogene Proteins c-ets

Adolescent

Oncogene Proteins, Fusion

Source

Open in PubMed Open full text

Identifiers

PMID: 42557824
DOI: 10.1002/path.70096
PMCID: PMC13576893

Genes

ETV6
RUNX1
KMT2A
NR3C2
RAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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