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Article

Genomic Characterization of ETV6::RUNX1-Positive Childhood B-ALL in a Chinese Cohort: Novel Fusion Partners, Co-Occurring Mutations, and Risk-Stratifying Biomarkers.

Pediatric blood & cancer - 1 Nov 2026

Luo Hualei, Zhou Guichi, Li Qian, Yao Qiang, Chen Yunsheng, Tang Xue, Liu Shilin, Ye Huiying, Mai Huirong, Fu Xiaoying, Wang Ying

Abstract excerpt

BACKGROUND: ETV6::RUNX1 is the most common genetic abnormality in pediatric B-cell acute lymphoblastic leukemia (ALL; ∼25%), yet the comprehensive genetic architecture and molecular predictors of intermediate-risk (IR) stratification remain incompletely characterized. METHODS: We performed whole-transcriptome sequencing (Illumina NovaSeq 6000, rRNA depletion, 41.70 Gb/sample) on bone marrow samples from 93...

Read the complete abstract on PubMed

Topics

Humans
ETS Translocation Variant 6 Protein
Core Binding Factor Alpha 2 Subunit
Oncogene Proteins, Fusion
Female

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

Repressor Proteins

Child

Mutation

Proto-Oncogene Proteins c-ets

Male

Child, Preschool

Biomarkers, Tumor

Precursor B-Cell Lymphoblastic Leukemia-Lymphoma

Infant

Adolescent

Prognosis

Genomics

East Asian People

Source

Identifiers

PMID: 42720515
DOI: 10.1002/1545-5017.70636

Genes

ETV6
RUNX1
GNB1
KRAS
KLF12
KMT2C
NRAS
NSD2
PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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Genomic Characterization of ETV6::RUNX1-Positive Childhood B-ALL in a Chinese Cohort: Novel Fusion Partners, Co-Occurring Mutations, and Risk-Stratifying Biomarkers.PMID 42720515Read ↗

ETV6/RUNX1-like acute lymphoblastic leukemia: A novel B-cell precursor leukemia subtype associated with the CD27/CD44 immunophenotype.Semantic proximity Read ↗

Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemiaSemantic proximity Read ↗

RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia.Semantic proximity Read ↗

The Clinical and Genetic Features of ETV6/RUNX1-like Acute Lymphoblastic Leukemia in Pediatric: A Multicenter Retrospective StudySemantic proximity Read ↗

Identification of Novel Fusion Genes in Pediatric B-ALL patients Using Whole Transcriptome SequencingSemantic proximity Read ↗

Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic LeukemiaSemantic proximity Read ↗

Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.Semantic proximity Read ↗

ETV6/RUNX1-positive childhood acute lymphoblastic leukemia (ALL): The spectrum of clonal heterogeneity and its impact on prognosisSemantic proximity Read ↗

Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profilesSemantic proximity Read ↗

Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia.Semantic proximity Read ↗

Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemiaSemantic proximity Read ↗

The Diverse Roles of ETV6 Alterations in B-Lymphoblastic Leukemia and Other Hematopoietic Cancers.Semantic proximity Read ↗

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