[Clinical Characteristics and Prognostic Significance of BCOR/BCORL1 Gene Mutation in Patients with Myelodysplastic Syndromes]

Objective: To investigate the clinical characteristics and prognostic significance of myelodysplastic syndrome (MDS) patients with BCOR/BCORL1 mutation.

Methods: The clinical characteristics of 135 patients diagnosed as de novo MDS in People's Hospital of Xinjiang Uygur Autonomous Region from September 2015 to September 2019 were analyzed retrospectively. Next-generation sequencing was used to detect 34 kinds of myeloid-tumor-related gene in MDS patients. The clinical characteristics of BCOR/BCORL1 mutation and its effect to progression-free survival(PSF) and overall survival (OS) in MDS patients were analyzed.

Results: Among MDS patients, BCOR/BCORL1 mutation was found in 34(25.2%) patients, including 16(11.9%) BCOR mutation and 18(13.3%) BCORL1 mutation. Patients with BCOR/BCORL1 mutation were more common in women and showed lower neutrophil count ［0.75(0.08-22.20) vs 1.27(0.06-35.71)×10⁹/L, P=0.047］ as compared with those without BCOR/BCORL1 mutation. There were no significant difference in the rate of BCOR/BCORL1 mutation in different IPSS-R subgroups, the IPSS-R lower risk group and the IPSS-R higher risk group, different genetic groups, and conversion or non-conversion to leukemia group(P=0.725, P=0.713, P=0.273, P=0.165). BCOR/BCORL1 mutation was associated with DNMT3A, NF1, STAG2, U2AF1, and EZH2 mutation (P=0.003, P=0.007, P=0.000, P=0.004, P=0.024). While the median PFS of patients with BCOR/BCORL1 mutation showed no significantly different as compared with MDS patients without BCOR/BCORL1 mutation (P=0.210), but the median OS was significantly shorter ［16(3-32) vs 22(0.2-48) months, P=0.039］.

Conclusion: BCOR/BCORL1 mutation is more common in MDS patients and often company with other genes co-mutations. BCOR/BCORL1 mutation is not associated with disease progression and AML transformation in MDS patients, but it predicts poor overall survival.