1. Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL
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Sarka Pavlova, Jitka Malcikova, Lenka Radova, Silvia Bonfiglio, Jack B. Cowland, Christian Brieghel, Mette K. Andersen, Maria Karypidou, Bella Biderman, Michael Doubek, Gregory Lazarian, Inmaculada Rapado, Matthijs Vynck, Naomi A. Porret, Martin Andres, Dina Rosenberg, Dvora Sahar, Carolina Martínez‐Laperche, Ismael Buño, Andrew Hindley, David Donaldson, Julio B. Sánchez, José A. García‐Marco, Alicia Serrano‐Alcalá, Blanca Ferrer‐Lores, Concepción Fernández‐Rodriguez, Beatriz Bellosillo, Stephan Stilgenbauer, Eugen Tausch, Hero Nikdin, Fiona Quinn, Emer Atkinson, Lisette van deCorput, Cafer Yildiz, Cristina Bilbao‐Sieyro, Yanira Florido, Christian Thiede, Caroline Schuster, Anastazja Stoj, Sylwia Czekalska, Anastasia Chatzidimitriou, Stamatia Laidou, Audrey Bidet, Charles Dussiau, Friedel Nollet, Giovanna Piras, Maria Monne, Svetlana Smirnova, Eugene Nikitin, Ivan Sloma, Alexis Claudel, Laetitia Largeaud, Loïc Ysebaert, Peter J. M. Valk, Amy Christian, Renata Walewska, David Oscier, Marta Sebastião, Maria Gomes daSilva, Piero Galieni, Mario Angelini, Davide Rossi, Valeria Spina, Sónia Matos, Vânia Martins, Tomasz Stokłosa, Monika Pepek, Panagiotis Baliakas, Rafa Andreu, Irene Luna, Tiina Kahre, Ülle Murumets, Tereza Pikousova, Terezia Kurucova, Sophie Laird, Daniel Ward, Miguel Alcoceba, Ana Balanzategui, Lydia Scarfo, Francesca Gandini, Ettore Zapparoli, Adoración Blanco, Pau Abrisqueta, Ana E. Rodríguez‐Vicente, Rocío Benito, Clotilde Bravetti, Frédéric Davi, Paula Gameiro, Joaquin Martinez‐Lopez, Bárbara Tazón‐Vega, Fanny Baran‐Marszak, Zadie Davis, Mark Catherwood, Andrey Sudarikov, Richard Rosenquist, Carsten U. Niemann, Kostas Stamatopoulos, Paolo Ghia, and Sarka Pospisilova
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Diseases of the blood and blood-forming organs ,RC633-647.5 - Abstract
Abstract In chronic lymphocytic leukemia, the reliability of next‐generation sequencing (NGS) to detect TP53 variants ≤10% allelic frequency (low‐VAF) is debated. We tested the ability to detect 23 such variants in 41 different laboratories using their NGS method of choice. The sensitivity was 85.6%, 94.5%, and 94.8% at 1%, 2%, and 3% VAF cut‐off, respectively. While only one false positive (FP) result was reported at >2% VAF, it was more challenging to distinguish true variants
- Published
- 2025
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