Clinical prognostic value of different NPM1 mutations in acute myeloid leukemia patients

• Published in: Annals of hematology 2024-07, Vol.103 (7), p.2323-2335
• Main Authors: Shi, Yu, Chen, Xiao, Jin, Huimin, Zhu, Liying, Hong, Ming, Zhu, Yu, Wu, Yujie, Qiu, Hairong, Wang, Yan, Sun, Qian, Jin, Hui, Li, Jianyong, Qian, Sixuan, Qiao, Chun
• Format: Article
• Language: English
• Subjects: Hematology; Leukemia; Medical prognosis; Medicine; Medicine & Public Health; Mutation; Oncology; Original Article
• ISSN: 0939-5555; 1432-0584; 1432-0584
• DOI: 10.1007/s00277-024-05786-w

Background: Acute myeloid leukemia (AML) patients with various nucleophosmin 1 ( NPM1 ) mutations are controversial in the prognosis. This study aimed to investigate the prognosis of patients according to types of NPM1 mutations ( NPM1 mut ). Methods: Bone marrow samples of 528 patients newly diagnosed with AML, were collected for morphology, immunology, cytogenetics, and molecular biology examinations. Gene mutations were detected by next-generation sequencing (NGS) technology. Results: About 25.2% of cases exhibited NPM1 mut . 83.5% of cases were type A, while type B and D were respectively account for 2.3% and 3.0%. Furthermore, 15 cases of rare types were identified, of which 2 cases have not been reported. Clinical characteristics were similar between patients with A-type NPM1 mutations ( NPM1 A − type mut ) and non-A-type NPM1 mutations ( NPM1 non  −  A−type mut ). Event-free survival (EFS) was significantly different between patients with low NPM1 non − A−type mut variant allele frequency (VAF) and low NPM1 A − type mut VAF (median EFS = 3.9 vs. 8.5 months, P  = 0.020). The median overall survival (OS) of the NPM1 non − A−type mut FLT3 -ITD mut group, the NPM1 A − type mut FLT3 -ITD mut group, the NPM1 non − A−type mut FLT3 -ITD wt group, and the NPM1 A − type mut FLT3 -ITD wt group were 3.9, 10.7, 17.3 and 18.8 months, while the median EFS of the corresponding groups was 1.4, 5.0, 7.6 and 9.2 months ( P