ArticleLeukemia2017
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis.
Article in Leukemia, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
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Who cites it
34 citing papers in PubMed.
- Mapping the non-coding RNA landscape in ataxia telangiectasia: a scoping review of ATM dependent miRNA and lncRNA dysregulation.Molecular biology reports · 2025Article
- Modelling Acral Melanoma in Admixed Brazilians Uncovers Genomic Drivers and Targetable Pathways.medRxiv : the preprint server for health sciences · 2025Article
- Chromoanagenesis in Osteosarcoma.Biomolecules · 2025Review
- Chromothripsis-Mediated Small Cell Lung Carcinoma.Cancer discovery · 2025Article
- Chromothripsis.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Multi-omic and single-cell profiling of chromothriptic medulloblastoma reveals genomic and transcriptomic consequences of genome instability.Nature communications · 2024Article
- Genetic hallmarks and clinical implications of chromothripsis in childhood T-cell acute lymphoblastic leukemia.Leukemia · 2024Article
- Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL.HemaSphere · 2024Article
- Chromothripsis is a novel biomarker for prognosis and differentiation diagnosis of pancreatic neuroendocrine neoplasms.MedComm · 2024Article
- MicroRNA dysregulation in ataxia telangiectasia.Frontiers in immunology · 2024Article
- Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.Leukemia · 2022Article
- Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders.Nature communications · 2022Article
- Homologous Recombination Deficiency Scar: Mutations and Beyond-Implications for Precision Oncology.Cancers · 2022Review
- Inborn errors of immunity caused by defects in the DNA damage response pathways: Importance of minimizing treatment-related genotoxicity.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2022Review
- Review
- Insight into the Molecular Basis Underlying Chromothripsis.International journal of molecular sciences · 2022Review
- Involvement of classic and alternative non-homologous end joining pathways in hematologic malignancies: targeting strategies for treatment.Experimental hematology & oncology · 2021Review
- Chitosan as possible inhibitory agents and delivery systems in leukemia.Cancer cell international · 2021Review
- Mechanisms Underlying the Suppression of Chromosome Rearrangements by Ataxia-Telangiectasia Mutated.Genes · 2021Review
- Chromothripsis-Explosion in Genetic Science.Cells · 2021Review
Corrections and comments
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Authors and funding
38 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent developments in sequencing technologies led to the discovery of a novel form of genomic instability, termed chromothripsis. This catastrophic genomic event, involved in tumorigenesis, is characterized by tens to hundreds of simultaneously acquired locally clustered rearrangements on one chromosome. We hypothesized that leukemias developing in individuals with Ataxia Telangiectasia, who are born with two mutated copies of the ATM gene, an essential guardian of genome stability, would show a higher prevalence of chromothripsis due to the associated defect in DNA double-strand break repair. Using whole-genome sequencing, fluorescence in situ hybridization and RNA sequencing, we characterized the genomic landscape of Acute Lymphoblastic Leukemia (ALL) arising in patients with Ataxia Telangiectasia. We detected a high frequency of chromothriptic events in these tumors, specifically on acrocentric chromosomes, as compared with tumors from individuals with other types of DNA repair syndromes (27 cases total, 10 with Ataxia Telangiectasia). Our data suggest that the genomic landscape of Ataxia Telangiectasia ALL is clearly distinct from that of sporadic ALL. Mechanistically, short telomeres and compromised DNA damage response in cells of Ataxia Telangiectasia patients may be linked with frequent chromothripsis. Furthermore, we show that ATM loss is associated with increased chromothripsis prevalence in additional tumor entities.
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