[Correlation between Peripheral Blood Immunological Markers and Gene Mutations in Myelodysplastic Syndrome]

To explore the status of peripheral blood immunological markers and gene mutations in patients with myelodysplastic syndrome (MDS) and the correlation between them.

A retrospective analysis was performed on the data of 36 MDS patients treated in Xiyuan Hospital Affiliated to China Academy of Chinese Medical Sciences from August 1, 2022 to August 31, 2023. The basic information of the patients and the results of next-generation sequencing (NGS) genetic testing were collected, the proportion of T lymphocyte subsets in peripheral blood was detected by flow cytometry, and the transcription factor T-bet and GATA3 , as well as their ratio was detected by genetic testing. The mutation results from NGS were analyzed based on four dimensions: chromatin regulatory function, transcriptional regulatory function, poor prognosis and leukemia transformation. For each dimension, immunological markers were compared between MDS patients with and without mutations. The correlation between the proportions of T-bet and GATA3 gene mutations and immunological markers was analyzed.

The proportion of lymphocytes in patients with chromatin regulatory function gene (ASXL1, EZH2) mutations was lower than that in those without mutations, while the proportions of activated T cells (the sum of CD25⁺ and HLA-DR⁺ T cells) and HLA-DR⁺ T cells were higher (all P < 0.05). The proportion of HLA-DR⁺ T cells in patients with transcriptional regulatory gene (RUNX1, EYV6, SETBP1, GATA2, PHF6, BCOR) mutations was lower than that in patients without mutations (P < 0.05). The proportion of HLA-DR⁺ T cells in patients with poor prognostic gene (TP53, JAK2, KRAS, NRAS, ASXL1) mutations was higher than that in patients without mutations (P < 0.05). The proportions of activated T cells and HLA-DR⁺ T cells in patients with mutated genes related to leukemia transformation (RUNX1, CEBPA, GATA2, FLT3, RAS) were higher than those in patients without mutations (both P < 0.05). The proportions of T-bet gene mutations and GATA3 gene mutations were both strongly positively correlated with the proportion of peripheral blood lymphocytes. The correlation coefficients were 0.75 and 0.61, respectively. The T-bet/GATA3 ratio was moderately positively correlated with the proportion of peripheral blood lymphocytes. The correlation coefficients was 0.58. The proportions of T-bet and GATA3 gene mutations showed a moderate negative correlation with the proportion of CD25⁺ T cells. The correlation coefficients were -0.43 and -0.47, respectively.

Flow cytometry antibody indicators can suggest that MDS patients are prone to gene mutations related to chromatin regulation, transcriptional regulation, poor prognosis and leukemia transformation. The proportions of CD25⁺ T cells and lymphocytes were both closely related to the T-bet and GATA3 gene mutations.