伴ASXL1基因突变初诊急性髓系白血病患者的临床特征及生存分析

OBJECTIVE: To examine the survival rates and clinical characteristics of people with newly discovered non-M(3) acute myeloid leukemia（AML）who carry the ASXL1 gene mutation. METHODS: From January 2016 to April 2021, the clinical information of patients with newly diagnosed non-M(3) AML at Shandong University's Qilu Hospital was retrospectively examined, and their clinical characteristics and survival were compared and analyzed. Gene mutation was detected by next-generation sequencing. RESULTS: ① The study included 256 AML patients who were initially diagnosed and had complete data, including 47 cases of ASXL1 gene mutation-positive（ASXL1(+)）patients and 209 cases of ASXL1 gene mutation-negative（ASXL1(−)）patients. All patients were divided into three groups: elderly（≥60 years old, n＝92）, middle-aged（45–59 years old, n＝92）, and young（≤44 years old, n＝72）. ②WBC, and age were higher in patients with ASXL1 mutations compared to ASXL1(−) patients, while complete response after the first round of treatment（CR(1)）was lower（P<0.05）. In the elderly group, WBC and the proportion of aberrant cells in nuclear cells in ASXL1(+) patients were higher than those in ASXL1(−) patients（P<0.05）. In the young group, the WBC of ASXL1(+) patients was higher than that of ASXL1(−) patients（z＝−2.314，P＝0.021）. ③IDH2 mutation and ASXL1 mutation was related（P＝0.018, r＝0.34）. In ASXL1(+) patients, the proportion of peripheral blasts in the high VAF group（VAF>40％）was higher than that in the low VAF group（VAF<20％）, and the proportion of aberrant nuclear cells was higher in the duplication and replacement mutation patients than in the deletion mutation patients（P<0.05）. ④The overall survival（OS）and progression-free survival（PFS）of ASXL1(+) patients were shorter than those of ASXL1(−) patients（median, 10 months vs 20 months，10 months vs 17 months; P<0.05）. The proportion number of aberrant cells in nuclear cells（≥20％）, complex karyotypes, and TET2 mutation were all independent risk variables that had an impact on the prognosis of ASXL1(+) patients, according to multivariate analysis（P<0.05）. CONCLUSION: ASXL1-mutated non-M(3) AML patients have higher WBC in peripheral blood, a higher proportion of aberrant cells in nuclear cells, lower CR(1) rate, and shorter OS and PFS. Additionally, a poor prognosis is linked to higher VAF, duplication, and substitution mutations in the ASXL1 gene, as well as the high proportion of aberrant cells in nuclear cells, complex karyotype, and TET2 mutation.