biostudies-literatureArniani SAssociazione Italiana per la Ricerca sul CancroRocheMinistero dell'Istruzione, dell'Università e della Ricerca2577-2585https://www.ebi.ac.uk/biostudies/studies/S-EPMC9613476biostudies-literatureUnknown36(11)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 SFPQLeukemiaChromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.PMC9613476PRIN 2017PPS2X4MYNERVA 5X1000Medicina di precisione 2020Pierini VGorello PBeacci DArniani SElia LDi Giacomo DRomoli SNardelli CMatteucci CMavridou ELema Fernandez AGForghieri FMoretti MCerrano MLa Starza RBardelli VGiglio FPellanera FFracchiolla NDargenio MQuintini MCrescenzi BSica SMecucci CfalseChromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.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 SFPQ2022-01-01T00:00:00Z2022 Nov2026-06-01T02:15:55.699Z2025-04-07T08:19:58.332ZS-EPMC96134763597410210.1038/s41375-022-01671-5