期刊
ANNALS OF TRANSLATIONAL MEDICINE
卷 7, 期 8, 页码 -出版社
AME PUBL CO
DOI: 10.21037/atm.2019.03.63
关键词
Splicing factor 3b subunit 1 mutation (SF3B1 mutation); chronic lymphocytic leukemia (CLL); prognosis; risk models
资金
- National Natural Science Foundation of China [81370657, 81470328, 81600130, 81700193, 81770166, 81720108002]
- Jiangsu Province's Medical Elite Program [ZDRCA2016022]
- Natural Science Foundation of Jiangsu Province [BK20161354]
- Excellent Youth Foundation Project of Jiangsu Province [BK20160099]
- Jiangsu Provincial Special Program of Medical Science [BE2017751]
- National Science and Technology Major Project [2018ZX09734007]
Background: Splicing factor 3b subunit 1 (SF3B1), a splicing factor modulating RNA alternative splicing, is frequently mutated in multiple hematological malignancies including myelodysplastic syndromes and chronic lymphocytic leukemia (CLL). The clinical impact of SF3B1 mutation on CLL remains controversial especially for patients of Asian descent. Methods: We retrospectively analyzed the frequency of SF3B1 mutation by Sanger sequencing in 399 newly diagnosed Chinese CLL patients. Results: SF3B1 mutation was detected in 5.5% (22/399) of the studied cohort with 59.1% of them being c.A2098G (p.K700E). SF3B1 mutation was common in patients with unmutated immunoglobulin heavy chain variable region gene, positive CD38 and positive ZAP-70. Survival analysis showed that SF3B1 mutation was associated with short treatment-free survival (TFS), but not overall survival (OS). We then developed 2 new risk models, named CLL-IPI-S and CLL-PI, according to the SF3B1 mutation status and CLL-international prognostic index (CLL-IPI); CLL-PI showed greater power to predict TFS than CLL-IPI in Chinese CLL patients. Conclusions: Our data suggest a low incidence and adverse clinical significance of SF3B1 mutation in newly diagnosed Chinese CLL patients.
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