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- Title
A reappraisal of ASXL1 mutation sites and the cohesin-binding motif in myeloid disease.
- Authors
Johnson, Steven M.; Haberberger, James; Galeotti, Jonathan; Ramkissoon, Lori; Coombs, Catherine C.; Richardson, Daniel R.; Foster, Matthew C.; Duncan, Daniel; Zeidner, Joshua F.; Ferguson, Naomi L.; Montgomery, Nathan D.
- Abstract
Across all I ASXL1 i -mutated patients, I STAG2 i mutations were more likely to be seen with I ASXL1 i SP c.1934dupG sp (21% vs. 16%, I p i = 0.02), whereas I SETBP1 i mutations were more commonly co-mutated with I ASXL1 i SP other sp (15% vs. 10%, I p i = 0.01). The most common I ASXL1 i mutation was c.1934dupG (p.G646Xfs*12), and this was the sole or dominant I ASXL1 i mutation in 520 cases (37%, collectively referred to as I ASXL1 i SP c.1934dupG sp hereafter, Supplementary Fig. Dear Editor, Emerging evidence supports that I ASXL1 i mutation in myeloid neoplasia leads to aberrant protein gain-of-function rather than loss-of-function as initially thought [[1]]. Independent of cohesin mutation status, we found that I EZH2 i , I SETBP1 i , and I CUX1 i mutations were significantly more likely to co-occur with CBM mutations than non-CBM I ASXL1 i mutations.
- Subjects
MYELOFIBROSIS; GENETIC mutation; SOMATIC mutation; CHRONIC leukemia
- Publication
Blood Cancer Journal, 2023, Vol 13, Issue 1, p1
- ISSN
2044-5385
- Publication type
Article
- DOI
10.1038/s41408-023-00876-w