ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker
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THORVALDSDOTTIR, Birna; Larry MANSOURI; Lesley-Ann SUTTON; Ferran NADEU; Manja MEGGENDORFER; Helen PARKER; Christian BRIEGHEL; Stamatia LAIDOU; Riccardo MOIA; Davide ROSSI; Jana KOTAŠKOVÁ; Julio DELGADO; Ana E RODRIGUEZ-VICENTE; Rocio BENITO; Gian Matteo RIGOLIN; Silvia BONFIGLIO; Lydia SCARFO; Mattias MATTSSON; Zadie DAVIS; Panagiotis BALIAKAS; Inmaculada RAPADO; Fatima MIRAS; Joaquin MARTINEZ-LOPEZ; de la Serna JAVIER; Hernandez Rivas Jesus MARIA; Maria Jose LARRAYOZ; Maria Jose CALASANZ; Karin E SMEDBY; Blanca ESPINET; Anna PUIGGROS; Lars BULLINGER; Francesc BOSCH; Barbara TAZON-VEGA; Fanny BARAN-MARSZAK; David OSCIER; Florence NGUYEN-KHAC; Thorsten ZENZ; Maria Jose TEROL; Antonio CUNEO; Maria HERNANDEZ-SANCHEZ; Šárka POSPÍŠILOVÁ; Gianluca GAIDANO; Carsten U NIEMANN; Elias CAMPO; Jonathan C STREFFORD; Paolo GHIA; Kostas STAMATOPOULOS a Richard ROSENQUIST
lt;1% of M-CLL cases. While univariable analysis revealed shorter TTFT for Binet A patients with any ATM aberration compared to ATM-wildtype, multivariable analysis identified only del(11q), trisomy 12, SF3B1, and EGR2 mutations as independent prognosticators of shorter TTFT among Binet A patients and within M-CLL and U-CLL subgroups. These findings highlight del(11q), and not ATM mutations, as a key biomarker of increased risk of early progression and need for therapy, particularly in otherwise indolent M-CLL, providing insights into risk-stratification and therapeutic decision-making.
THORVALDSDOTTIR, Birna; Larry MANSOURI; Lesley-Ann SUTTON; Ferran NADEU; Manja MEGGENDORFER; Helen PARKER; Christian BRIEGHEL; Stamatia LAIDOU; Riccardo MOIA; Davide ROSSI; Jana KOTAŠKOVÁ; Julio DELGADO; Ana E RODRIGUEZ-VICENTE; Rocio BENITO; Gian Matteo RIGOLIN; Silvia BONFIGLIO; Lydia SCARFO; Mattias MATTSSON; Zadie DAVIS; Panagiotis BALIAKAS; Inmaculada RAPADO; Fatima MIRAS; Joaquin MARTINEZ-LOPEZ; de la Serna JAVIER; Hernandez Rivas Jesus MARIA; Maria Jose LARRAYOZ; Maria Jose CALASANZ; Karin E SMEDBY; Blanca ESPINET; Anna PUIGGROS; Lars BULLINGER; Francesc BOSCH; Barbara TAZON-VEGA; Fanny BARAN-MARSZAK; David OSCIER; Florence NGUYEN-KHAC; Thorsten ZENZ; Maria Jose TEROL; Antonio CUNEO; Maria HERNANDEZ-SANCHEZ; Šárka POSPÍŠILOVÁ; Gianluca GAIDANO; Carsten U NIEMANN; Elias CAMPO; Jonathan C STREFFORD; Paolo GHIA; Kostas STAMATOPOULOS a Richard ROSENQUIST. ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker. Leukemia. London: Nature Publishing Group, 2025, 11 s. ISSN 0887-6924. Dostupné z: https://doi.org/10.1038/s41375-025-02615-5.
@article{84488, author = {Thorvaldsdottir, Birna and Mansouri, Larry and Sutton, LesleyandAnn and Nadeu, Ferran and Meggendorfer, Manja and Parker, Helen and Brieghel, Christian and Laidou, Stamatia and Moia, Riccardo and Rossi, Davide and Kotašková, Jana and Delgado, Julio and RodriguezandVicente, Ana E and Benito, Rocio and Rigolin, Gian Matteo and Bonfiglio, Silvia and Scarfo, Lydia and Mattsson, Mattias and Davis, Zadie and Baliakas, Panagiotis and Rapado, Inmaculada and Miras, Fatima and MartinezandLopez, Joaquin and Javier, de la Serna and Maria, Hernandez Rivas Jesus and Larrayoz, Maria Jose and Calasanz, Maria Jose and Smedby, Karin E and Espinet, Blanca and Puiggros, Anna and Bullinger, Lars and Bosch, Francesc and TazonandVega, Barbara and BaranandMarszak, Fanny and Oscier, David and NguyenandKhac, Florence and Zenz, Thorsten and Terol, Maria Jose and Cuneo, Antonio and HernandezandSanchez, Maria and Pospíšilová, Šárka and Gaidano, Gianluca and Niemann, Carsten U and Campo, Elias and Strefford, Jonathan C and Ghia, Paolo and Stamatopoulos, Kostas and Rosenquist, Richard}, article_location = {London}, doi = {https://doi.org/10.1038/s41375-025-02615-5}, language = {eng}, issn = {0887-6924}, journal = {Leukemia}, title = {ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker}, url = {https://www.nature.com/articles/s41375-025-02615-5}, year = {2025} }
TY - JOUR ID - 84488 AU - Thorvaldsdottir, Birna - Mansouri, Larry - Sutton, Lesley-Ann - Nadeu, Ferran - Meggendorfer, Manja - Parker, Helen - Brieghel, Christian - Laidou, Stamatia - Moia, Riccardo - Rossi, Davide - Kotašková, Jana - Delgado, Julio - Rodriguez-Vicente, Ana E - Benito, Rocio - Rigolin, Gian Matteo - Bonfiglio, Silvia - Scarfo, Lydia - Mattsson, Mattias - Davis, Zadie - Baliakas, Panagiotis - Rapado, Inmaculada - Miras, Fatima - Martinez-Lopez, Joaquin - Javier, de la Serna - Maria, Hernandez Rivas Jesus - Larrayoz, Maria Jose - Calasanz, Maria Jose - Smedby, Karin E - Espinet, Blanca - Puiggros, Anna - Bullinger, Lars - Bosch, Francesc - Tazon-Vega, Barbara - Baran-Marszak, Fanny - Oscier, David - Nguyen-Khac, Florence - Zenz, Thorsten - Terol, Maria Jose - Cuneo, Antonio - Hernandez-Sanchez, Maria - Pospíšilová, Šárka - Gaidano, Gianluca - Niemann, Carsten U - Campo, Elias - Strefford, Jonathan C - Ghia, Paolo - Stamatopoulos, Kostas - Rosenquist, Richard PY - 2025 TI - ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker JF - Leukemia PB - Nature Publishing Group SN - 0887-6924 UR - https://www.nature.com/articles/s41375-025-02615-5 N2 - lt;1% of M-CLL cases. While univariable analysis revealed shorter TTFT for Binet A patients with any ATM aberration compared to ATM-wildtype, multivariable analysis identified only del(11q), trisomy 12, SF3B1, and EGR2 mutations as independent prognosticators of shorter TTFT among Binet A patients and within M-CLL and U-CLL subgroups. These findings highlight del(11q), and not ATM mutations, as a key biomarker of increased risk of early progression and need for therapy, particularly in otherwise indolent M-CLL, providing insights into risk-stratification and therapeutic decision-making. ER -
THORVALDSDOTTIR, Birna; Larry MANSOURI; Lesley-Ann SUTTON; Ferran NADEU; Manja MEGGENDORFER; Helen PARKER; Christian BRIEGHEL; Stamatia LAIDOU; Riccardo MOIA; Davide ROSSI; Jana KOTAŠKOVÁ; Julio DELGADO; Ana E RODRIGUEZ-VICENTE; Rocio BENITO; Gian Matteo RIGOLIN; Silvia BONFIGLIO; Lydia SCARFO; Mattias MATTSSON; Zadie DAVIS; Panagiotis BALIAKAS; Inmaculada RAPADO; Fatima MIRAS; Joaquin MARTINEZ-LOPEZ; de la Serna JAVIER; Hernandez Rivas Jesus MARIA; Maria Jose LARRAYOZ; Maria Jose CALASANZ; Karin E SMEDBY; Blanca ESPINET; Anna PUIGGROS; Lars BULLINGER; Francesc BOSCH; Barbara TAZON-VEGA; Fanny BARAN-MARSZAK; David OSCIER; Florence NGUYEN-KHAC; Thorsten ZENZ; Maria Jose TEROL; Antonio CUNEO; Maria HERNANDEZ-SANCHEZ; Šárka POSPÍŠILOVÁ; Gianluca GAIDANO; Carsten U NIEMANN; Elias CAMPO; Jonathan C STREFFORD; Paolo GHIA; Kostas STAMATOPOULOS a Richard ROSENQUIST. ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker. \textit{Leukemia}. London: Nature Publishing Group, 2025, 11 s. ISSN~0887-6924. Dostupné z: https://doi.org/10.1038/s41375-025-02615-5.
