{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pastorczak A"],"funding":["Uniwersytet Medyczny w Lublinie (Medical University of Lublin)","Uniwersytet Medyczny w Lublinie","Fundacja na rzecz Nauki Polskiej","Fundacja na rzecz Nauki Polskiej (Foundation for Polish Science)"],"pagination":["2344-2354"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11518979"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["38(11)"],"pubmed_abstract":["Chromothripsis (cth) is a form of genomic instability leading to massive de novo structural chromosome rearrangements in a one-time catastrophic event. It can cause cancer-promoting alterations, such as loss of sequences for tumor-suppressor genes, formation of oncogenic fusions, and oncogene amplifications. We investigated the genetic background and clinical significance of cth in childhood T-cell acute lymphoblastic leukemia (T-ALL) patients. For this purpose, whole-genome copy number alterations were analyzed in 173 children with newly diagnosed T-ALL using high-density microarrays. Cth was identified in 10 T-ALL samples (5.78%). In six of them, cth occurred in a constitutional background of Nijmegen breakage syndrome (n = 5) or Li-Fraumeni syndrome (n = 1). Cth generated alterations, i"],"journal":["Leukemia"],"pubmed_title":["Genetic hallmarks and clinical implications of chromothripsis in childhood T-cell acute lymphoblastic leukemia."],"pmcid":["PMC11518979"],"funding_grant_id":["GI/13","POIR.04.04.00-00-16ED/18-00","(POIR.04.04.00-00-16ED/18-00"],"pubmed_authors":["Styka B","Wakulinska A","Lejman M","Miarka-Walczyk K","Mlynarski W","Sedek L","Kowalczyk J","Nowicka Z","Urbanska Z","Stanczak M","Wypyszczak K","Fendler W","Pastorczak A","Szczepanski T"],"additional_accession":[]},"is_claimable":false,"name":"Genetic hallmarks and clinical implications of chromothripsis in childhood T-cell acute lymphoblastic leukemia.","description":"Chromothripsis (cth) is a form of genomic instability leading to massive de novo structural chromosome rearrangements in a one-time catastrophic event. It can cause cancer-promoting alterations, such as loss of sequences for tumor-suppressor genes, formation of oncogenic fusions, and oncogene amplifications. We investigated the genetic background and clinical significance of cth in childhood T-cell acute lymphoblastic leukemia (T-ALL) patients. For this purpose, whole-genome copy number alterations were analyzed in 173 children with newly diagnosed T-ALL using high-density microarrays. Cth was identified in 10 T-ALL samples (5.78%). In six of them, cth occurred in a constitutional background of Nijmegen breakage syndrome (n = 5) or Li-Fraumeni syndrome (n = 1). Cth generated alterations, i","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2026-06-04T11:10:25.226Z","creation":"2025-04-19T18:12:03.506Z"},"accession":"S-EPMC11518979","cross_references":{"pubmed":["39192035"],"doi":["10.1038/s41375-024-02370-z"]}}