ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker: CHRONIC LYMPHOCYTIC LEUKEMIA
| Title: | ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker: CHRONIC LYMPHOCYTIC LEUKEMIA |
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| Authors: | Thorvaldsdottir B.; Mansouri L.; Sutton L. -A.; Nadeu F.; Meggendorfer M.; Parker H.; Brieghel C.; Laidou S.; Moia R.; Rossi D.; Kotaskova J.; Delgado J.; Rodriguez-Vicente A. E.; Benito R.; Rigolin G. M.; Bonfiglio S.; Scarfo L.; Mattsson M.; Davis Z.; Baliakas P.; Rapado I.; Miras F.; Martinez-Lopez J.; de la Serna J.; Hernandez Rivas J. M.; Larrayoz M. J.; Calasanz M. J.; Smedby K. E.; Espinet B.; Puiggros A.; Bullinger L.; Bosch F.; Tazon-Vega B.; Baran-Marszak F.; Oscier D.; Nguyen-Khac F.; Zenz T.; Terol M. J.; Cuneo A.; Hernandez-Sanchez M.; Pospisilova S.; Gaidano G.; Niemann C. U.; Campo E.; Strefford J. C.; Ghia P.; Stamatopoulos K.; Rosenquist R. |
| Contributors: | Thorvaldsdottir, B.; Mansouri, L.; Sutton, L. -A.; Nadeu, F.; Meggendorfer, M.; Parker, H.; Brieghel, C.; Laidou, S.; Moia, R.; Rossi, D.; Kotaskova, J.; Delgado, J.; Rodriguez-Vicente, A. E.; Benito, R.; Rigolin, G. M.; Bonfiglio, S.; Scarfo, L.; Mattsson, M.; Davis, Z.; Baliakas, P.; Rapado, I.; Miras, F.; Martinez-Lopez, J.; De La Serna, J.; Hernandez Rivas, J. M.; Larrayoz, M. J.; Calasanz, M. J.; Smedby, K. E.; Espinet, B.; Puiggros, A.; Bullinger, L.; Bosch, F.; Tazon-Vega, B.; Baran-Marszak, F.; Oscier, D.; Nguyen-Khac, F.; Zenz, T.; Terol, M. J.; Cuneo, A.; Hernandez-Sanchez, M.; Pospisilova, S.; Gaidano, G.; Niemann, C. U.; Campo, E.; Strefford, J. C.; Ghia, P.; Stamatopoulos, K.; Rosenquist, R. |
| Publisher Information: | Springer Nature |
| Publication Year: | 2025 |
| Description: | Despite the well-established adverse impact of del(11q) in chronic lymphocytic leukemia (CLL), the prognostic significance of somatic ATM mutations remains uncertain. We evaluated the effects of ATM aberrations (del(11q) and/or ATM mutations) on time-to-first-treatment (TTFT) in 3631 untreated patients with CLL, in the context of IGHV gene mutational status and mutations in nine CLL-related genes. ATM mutations were present in 246 cases (6.8%), frequently co-occurring with del(11q) (112/246 cases, 45.5%). ATM-mutated patients displayed a different spectrum of genetic abnormalities when comparing IGHV-mutated (M-CLL) and unmutated (U-CLL) cases: M-CLL was enriched for SF3B1 and NFKBIE mutations, whereas U-CLL showed mutual exclusivity with trisomy 12 and TP53 mutations. Isolated ATM mutations were rare, affecting 1.2% of Binet A patients and |
| Document Type: | article in journal/newspaper |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/40275070; info:eu-repo/semantics/altIdentifier/wos/WOS:001473957800001; volume:39; issue:7; firstpage:1650; lastpage:1660; numberofpages:11; journal:LEUKEMIA; https://hdl.handle.net/20.500.11768/182950 |
| DOI: | 10.1038/s41375-025-02615-5 |
| Availability: | https://hdl.handle.net/20.500.11768/182950; https://doi.org/10.1038/s41375-025-02615-5 |
| Rights: | info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: | edsbas.D37550B1 |
| Database: | BASE |