We’re happy to share that our collaborative study led by Dr. Ferran Nadeu and Dr. Elías Campo (IDIBAPS), with COmics PI Dr. Shimin Shuai as a co-first author, has been published in Leukemia!

Graphical Abstract

In this work, we provide the first pan-B-cell neoplasm catalog of U1 spliceosomal RNA mutations, analyzing over 2,000 samples across chronic lymphocytic leukemia (CLL) and several mature B-cell lymphomas.

Highlights:

  • Validated our previous discovery (Shuai et al., Nature, 2019) of a recurrent g.3A>C U1 mutation in ~3.5% of CLL, linked to accelerated disease progression
  • Identified a novel g.9C>T U1 mutation in CLL, associated with poor clinical outcomes
  • Discovered tumor-subtype-specific U1 hotspot mutations in DLBCL (g.4C>T) and Burkitt lymphoma (g.7A>G), each driving distinct splicing alterations

This study establishes U1 as a driver gene in multiple mature B-cell malignancies, providing new insights into splicing dysregulation and cancer biology.

📄 Leukemia, 2025.
DOI: 10.1038/s41375-025-02667-7