biostudies-literaturePastorczak AUniwersytet Medyczny w Lublinie (Medical University of Lublin)Uniwersytet Medyczny w LublinieFundacja na rzecz Nauki PolskiejFundacja na rzecz Nauki Polskiej (Foundation for Polish Science)2344-2354https://www.ebi.ac.uk/biostudies/studies/S-EPMC11518979biostudies-literatureUnknown38(11)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, iLeukemiaGenetic hallmarks and clinical implications of chromothripsis in childhood T-cell acute lymphoblastic leukemia.PMC11518979GI/13POIR.04.04.00-00-16ED/18-00(POIR.04.04.00-00-16ED/18-00Styka BWakulinska ALejman MMiarka-Walczyk KMlynarski WSedek LKowalczyk JNowicka ZUrbanska ZStanczak MWypyszczak KFendler WPastorczak ASzczepanski TfalseGenetic hallmarks and clinical implications of chromothripsis in childhood T-cell acute lymphoblastic leukemia.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, i2024-01-01T00:00:00Z2024 Nov2026-06-04T11:10:25.226Z2025-04-19T18:12:03.506ZS-EPMC115189793919203510.1038/s41375-024-02370-z