作者
F Nadeu, S Shuai, G Clot, LK Hilton, A Diaz‐Navarro, S Martín, R Royo, T Baumann, M Kulis, I López‐Oreja, M Cossio, J Lu, V Ljungström, E Young, K Plevova, BA Knisbacher, Z Lin, CK Hahn, P Bousquets, M Alcoceba, M González, E Colado, M Aymerich, MJ Terol, A Rivas‐Delgado, A Enjuanes, S Ruiz‐Gaspà, T Chatzikonstantinou, D Hägerstrand, C Jylhä, A Skaftason, L Mansouri, K Stranska, M Doubek, EJ van Gastel‐Mol, Z Davis, R Walewska, L Scarfò, L Trentin, A Visentin, SA Parikh, KG Rabe, R Moia, M Armand, D Rossi, F Davi, G Gaidano, NE Kay, T Shanafelt, P Ghia, D Oscier, AW Langerak, S Beà, A López‐Guillermo, D Neuberg, CJ Wu, G Getz, S Pospisilova, K Stamatopoulos, R Rosenquist, W Huber, T Zenz, D Colomer, JI Martín‐Subero, J Delgado, RD Morin, LD Stein, XS Puente, E Campo
发表日期
2022/6
期刊
HemaSphere
卷号
6
页码范围
1167-1168
出版商
Lippincott Williams & Wilkins
简介
Background: 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 (Shuai et al. Nature, 2019; Suzuki et al. Nature, 2019). However, the clinical significance of these mutations in large CLL cohorts and their presence in other B-cell neoplasms is unknown.
Aims: To provide a comprehensive map of U1 mutations across a wide spectrum of mature B-cell neoplasms and to assess their transcriptional and clinical implications.
Methods: We first performed an unbiased characterization of U1 mutations in 762 mature B-cell neoplasms analyzed by whole-genome sequencing (WGS) and complemented with RNA-seq data. This WGS cohort comprised 399 CLL, 155 diffuse large B-cell lymphomas (DLBCL), 110 Burkitt lymphomas (BL), 61 mantle cell lymphomas (MCL), and …
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F Nadeu, S Shuai, G Clot, LK Hilton, A Diaz‐Navarro… - HemaSphere, 2022