Abstract: Objective To investigate the clinical characteristics of patients with myelodysplastic syndrome (MDS) complicated with TUBB1 mutations, and the correlation between TUBB1 mutations and platelet transfusion refractoriness. Methods Retrospective research was done. Systematically collect clinical data of 81 patients diagnosed with MDS and treated with chemotherapy at Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine from February 2018 to October 2023. Observe the incidence of blood routine, gene mutations, CD34 and platelet transfusion rejection (PTR). The survival curve was plotted using the Kaplan Meier, the PTR risk factor analysis was performed using logistic regression analysis, and the forest map was plotted using R studio. Results Among 81 MDS patients, there were 10 cases in the TUBB1 mutation group and 71 cases in the TUBB1 wild-type group. Compared with TUBB1 wild-type group patients, TUBB1 mutation group patients have a higher proportion of CD34⁺MKs [33.50 (14.25, 55.88)% vs. 4.00 (2.00, 10.00)%, P<0.001], decreased platelet count with increased volume [36.00 (18.75, 186.50)×10⁹/L vs. 91.00 (67.00, 164.00)×10⁹/L, P<0.05; (12.03±1.92) fL vs. (9.19±0.97) fL, P<0.001]. There were 8 cases (80.00%) of PTR in the TUBB1 mutation group, and 18 cases (25.35%) of PTR in the TUBB1 wild-type group. The difference between the two groups was statistically significant (P<0.05).The results of logistic regression analysis showed that TUBB1 mutation was an independent risk factor for ineffective platelet transfusion therapy (P<0.05, OR=7.28). Conclusion MDS patients with TUBB1 mutations generally exhibit an increase in the proportion of CD34⁺MKs, an increase in platelet volumeand and a decrease in platelet count.TUBB1 mutation is an independent risk factor for PTR during the bone marrow suppression phase after chemotherapy in MDS patients.

Key words: TUBB1 Myelodysplastic syndrome, Giant platelets, CD34⁺MKs, Platelet transfusion rejection (PTR)