CSF3R P733T is a deleterious germline variant in acute leukaemia showing gain‐of‐function‐like T618I mutation.

Autor: Sun, Haimin, Zhu, Yongmei, Li, Jianfeng, Zhao, Lingling, Yan, Zeying, Zhang, Sujiang
Předmět:
Zdroj: British Journal of Haematology; Mar2024, Vol. 204 Issue 3, pe31-e33, 3p
Abstrakt: This article discusses the identification of a germline variant, CSF3R P733T, in patients with acute leukemia. The study analyzed data from 1146 patients with newly diagnosed acute leukemia and found that CSF3R P733T was present in 3.66% of acute myeloid leukemia (AML) cases, 7.97% of B-cell acute lymphoblastic leukemia (B-ALL) cases, and 1.92% of T-cell acute lymphoblastic leukemia (T-ALL) cases. The variant was also associated with other genetic abnormalities and showed gain-of-function properties similar to the well-known CSF3R T618I mutation. The findings suggest that CSF3R P733T may play a role in the development of acute leukemia and could be targeted with certain drugs. [Extracted from the article]
Databáze: Complementary Index