Role and clinical significance of MUC4 gene mutations in thrombotic events in patients with classic paroxysmal nocturnal hemoglobinuria

• Published in: Zhōnghuá xuèyèxué zázhì Vol. 44; no. 7; pp. 561 - 566
• Main Authors: Chen, Y Y, Liu, H, Li, L Y, Li, L J, Wang, H Q, Song, J, Wu, Y H, Guan, J, Xing, L M, Wang, G J, Qu, W, Wang, X M, Shao, Z H, Fu, R
• Format: Journal Article
• Language: Chinese
• Published: 14.07.2023
• ISSN: 0253-2727
• DOI: 10.3760/cma.j.issn.0253-2727.2023.07.007

Objective: This study aimed to investigate the role and clinical significance of MUC4 gene mutations in thrombotic events in patients with classic paroxysmal nocturnal hemoglobinuria (PNH) patients. Methods: A retrospective analysis was conducted on the clinical data and gene sequencing results of 45 patients with classic PNH admitted to the Department of Hematology, Tianjin Medical University General Hospital, from June 2018 to February 2022. MUC4 gene mutations in patients with classic PNH were summarized, and the risk factors for thrombotic events in these patients were analyzed. Additionally, the effects of MUC4 gene mutations on the cumulative incidence and survival of thrombotic events in patients with classic PNH were determined. Results: The detection rate of MUC4 gene mutations in patients with classic PNH who experienced thrombotic events (thrombotic group) was 68.8% (11/16), which was significantly higher than that in the non-thrombotic group [10.3% (3/29) ] (P<0.001). All mutations occurred in exo