{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Arniani S"],"funding":["Associazione Italiana per la Ricerca sul Cancro","Roche","Ministero dell'Istruzione, dell'Università e della Ricerca"],"pagination":["2577-2585"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9613476"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["36(11)"],"pubmed_abstract":["Chromothripsis is a mitotic catastrophe that arises from multiple double strand breaks and incorrect re-joining of one or a few chromosomes. We report on incidence, distribution, and features of chromothriptic events in T-cell acute lymphoblastic leukemias (T-ALL). SNP array was performed in 103 T-ALL (39 ETP/near ETP, 59 non-ETP, and 5 with unknown stage of differentiation), including 38 children and 65 adults. Chromothripsis was detected in 11.6% of all T-ALL and occurred only in adult cases with an immature phenotype (12/39 cases; 30%). It affected 1 to 4 chromosomes, and recurrently involved chromosomes 1, 6, 7, and 17. Abnormalities of genes typically associated with T-ALL were found at breakpoints of chromothripsis. In addition, it gave rise to new/rare alterations, such as, the SFPQ"],"journal":["Leukemia"],"pubmed_title":["Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults."],"pmcid":["PMC9613476"],"funding_grant_id":["PRIN 2017PPS2X4","MYNERVA 5X1000","Medicina di precisione 2020"],"pubmed_authors":["Pierini V","Gorello P","Beacci D","Arniani S","Elia L","Di Giacomo D","Romoli S","Nardelli C","Matteucci C","Mavridou E","Lema Fernandez AG","Forghieri F","Moretti M","Cerrano M","La Starza R","Bardelli V","Giglio F","Pellanera F","Fracchiolla N","Dargenio M","Quintini M","Crescenzi B","Sica S","Mecucci C"],"additional_accession":[]},"is_claimable":false,"name":"Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.","description":"Chromothripsis is a mitotic catastrophe that arises from multiple double strand breaks and incorrect re-joining of one or a few chromosomes. We report on incidence, distribution, and features of chromothriptic events in T-cell acute lymphoblastic leukemias (T-ALL). SNP array was performed in 103 T-ALL (39 ETP/near ETP, 59 non-ETP, and 5 with unknown stage of differentiation), including 38 children and 65 adults. Chromothripsis was detected in 11.6% of all T-ALL and occurred only in adult cases with an immature phenotype (12/39 cases; 30%). It affected 1 to 4 chromosomes, and recurrently involved chromosomes 1, 6, 7, and 17. Abnormalities of genes typically associated with T-ALL were found at breakpoints of chromothripsis. In addition, it gave rise to new/rare alterations, such as, the SFPQ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2026-06-01T02:15:55.699Z","creation":"2025-04-07T08:19:58.332Z"},"accession":"S-EPMC9613476","cross_references":{"pubmed":["35974102"],"doi":["10.1038/s41375-022-01671-5"]}}