ArticleCancer medicine2016
Determination of ETV6-RUNX1 genomic breakpoint by next-generation sequencing.
Article in Cancer medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 17 citations in OpenAlex.
- Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia.The Journal of pathology · 2026Article
- From fragments to full pictures: how long-read sequencing platforms are revolutionizing oncology research.Molecular biology reports · 2026Review
- The novel ETV6::RARA fusion gene, identified in acute promyelocytic leukemia, is sensitive to invitro all-tans retinoic acid and arsenic trioxide administrations.Annals of hematology · 2026Article
- Germline and somatic drivers in inherited hematologic malignancies.Frontiers in oncology · 2023Review
- A genomic DNA-based NGS method for the simultaneous detection of multiple fusion genes in pediatric leukemia.Oncology letters · 2023Article
- A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins.Blood advances · 2022Article
- Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia.Molecular genetics & genomic medicine · 2020Article
- Next-Generation Sequencing in Acute Lymphoblastic Leukemia.International journal of molecular sciences · 2019Review
- The genetics and clinical characteristics of children morphologically diagnosed as acute promyelocytic leukemia.Leukemia · 2019Article
- OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.The Journal of molecular diagnostics : JMD · 2018Article
- Five percent of healthy newborns have anBlood · 2018Article
- Patterns of DNMT1 Promoter Methylation in Patients with Acute Lymphoblastic Leukemia.International journal of hematology-oncology and stem cell research · 2017Article
- Identification of potential predictive markers of dexamethasone resistance in childhood acute lymphoblastic leukemia.Journal of cell communication and signaling · 2017Article
- Pathogenesis of ETV6/RUNX1-positive childhood acute lymphoblastic leukemia and mechanisms underlying its relapse.Oncotarget · 2017Review
- Optimization of proximity ligation assay (PLA) for detection of protein interactions and fusion proteins in non-adherent cells: application to pre-B lymphocytes.Molecular cytogenetics · 2017Article
- Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.Nature communications · 2016Article
- Determination of ETV6-RUNX1 genomic breakpoint by next-generation sequencing.Cancer medicine · 2016Article
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The t(12;21)(p13;q22) ETV6-RUNX1 gene fusion is one of the most common chromosomal translocation in childhood acute lymphoblastic leukemia (ALL). It is associated with favorable prognosis. The identification of the genomic sequence of the breakpoint flanking regions of the ETV6-RUNX1 translocation should be the best strategy to monitor minimal residual disease (MRD) in patients with ETV6-RUNX1-positive ALL. In this study, the ETV6-RUNX1 translocation was sequenced by next-generation sequencing (NGS) in 26 patients with ETV6-RUNX1-positive ALL and re-sequenced by using the Sanger method. Interestingly, the three-way translocation, including ETV6-RUNX1, was detected in five patients. Four of them relapsed during or after therapy, while 21 patients without the three-way translocation were still in remission (P < 0.0001). The three-way translocation pattern was identical between the diagnosis and relapse samples in three patients, excluding one patient (SCMC-001245). The relapse samples retained the translocation of ETV6-RUNX1 relative to the three-way translocation t(8;12;21) at diagnosis, suggesting that the three-way translocation might be an important risk factor for relapse in patients with ETV6-RUNX1-positive ALL and should be further studied.
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