Abstract:Abstract: Objective To investigate the co-mutation gene expression spectrum of myeloid malignaney patients with BCOR/ BCORLI mutation, and analyze its pathological parameters and clinical significance. Methods Forty-seven myeloid malignancy patients with BCOR/ BCORLI mutation diagnosed in the First People's Hospital Afiliated to Shanghai Jiaotong University during January 2017 and August 2021 were analyzed retrospectively. The co-mutation gene expression spectrum of the patients was analyzed by the next generation sequencing technology, and the correlation of mutations with pathological parameters was analyzed by the Mann-W hitney test. The effects of mutation location and treatment methods on the disease-free survival (DFS) time and overall survival (OS) time of the patients were evaluated by the Kaplan-Meier analysis. Results The patients with AML were mainly with point mutations (51.1%) of BCOR/ BCORLI/ matati, while the patients with MDS and MDS/MPN were mainly with frameshift mutations,missense mutations and nonsense mutations of BCOR/ BC0RLI/matati ( 19.1%, X=7.458, P= 0.006). There were significant differences in white blood cell ( WBC) count (Z=-3.500, P=0.018), platelet count ( Z= 82.500, P= 0.027), plasma fibrinogen ( Fib) level ( Z=-0.935, P=0.008) and thrombin time ( Z =0.800, P=0.027) between the patients with metabolic enzyme-related gene mutations and with wild-type. The plasma Fib level of patients with methylation-related gene mutations (Z= -0.855, P=0.030),WBC count of patients with signaling transduction pathway -related gene mutations ( Z= 5.500, P= 0.019) and prothrombin time of patients with transcription factor-related gene mutations (Z=-1 600, P=0.008) were significantly different from those of patients with wild-type. The median DFS timeof patients with domain mutation was significantly shorter than that of patients with non-domain mutation (X2= 4.920, P=0.027). The median DFS time and OS time of the patients in the transplantation group were significantly longer than that in the non-transplantation group (x2= 7.703, P=0.006;x2= 13.380, P= 0.000). Conclusion The co-mutation genes in myeloid malignancy patients with BCOR/ BCORLI mutation are closely related to the pathological parameters of the patients, such as WBC count, plasma Fib level and etc. Allogeneic hematopoietic stem cell transplantation can effectively improve the prognosis of patients with such mutations.