Article
Disease-specific U1 spliceosomal RNA mutations in mature B-cell neoplasms.
Leukemia - 1 Sept 2025
Nadeu Ferran, Shuai Shimin, Clot Guillem, Hilton Laura K, Diaz-Navarro Ander, Martín Silvia, Royo Romina, Baumann Tycho, Kulis Marta, López-Oreja Irene, Cossio Manuel, Lu Junyan, Ljungström Viktor, Young Emma, Plevova Karla, Knisbacher Binyamin A, Lin Ziao, Hahn Cynthia K, Bousquets Pablo, Alcoceba Miguel, González Marcos, Colado Enrique, Payer Ángel R, Aymerich Marta, Terol María J, Rivas-Delgado Alfredo, Enjuanes Anna, Ruiz-Gaspà Sílvia, Chatzikonstantinou Thomas, Hägerstrand Daniel, Jylhä Cecilia, Skaftason Aron, Mansouri Larry, Stranska Kamila, Doubek Michael, van Gastel-Mol Ellen J, Davis Zadie, Walewska Renata, Scarfò Lydia, Trentin Livio, Visentin Andrea, Parikh Sameer A, Rabe Kari G, Moia Riccardo, Armand Marine, Rossi Davide, Davi Frederic, Gaidano Gianluca, Kay Neil E, Shanafelt Tait D, Ghia Paolo, Oscier David, Langerak Anton W, Beà Sílvia, López-Guillermo Armando, Neuberg Donna, Wu Catherine J, Getz Gad, Pospisilova Sarka, Stamatopoulos Kostas, Rosenquist Richard, Huber Wolfgang, Zenz Thorsten, Colomer Dolors, Martín-Subero José I, Delgado Julio, Morin Ryan D, Stein Lincoln D, Puente Xose S, Campo Elías
Abstract excerpt
Recurrent mutations in the third base of U1 spliceosomal RNA responsible for marked splicing and expression abnormalities have been described in chronic lymphocytic leukemia (CLL) and some solid tumors. However, the clinical significance of these mutations in large and independent CLL cohorts as well as their presence in other B-cell neoplasms is unknown. Here we characterized U1 mutations in 1670 CLL and 363...
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