骨髓增生异常综合征中常见基因突变相关血液学与免疫学特征差异分析

Genetic mutations play a crucial role in the development and progression of myelodysplastic syndromes (MDS), impacting the immune microenvironment and influencing the choice of treatment regimen, as well as the efficacy and prognosis of patients. The objective of this study was to examine variations in hematological and immunological characteristics associated with common gene mutations in MDS patients and establish a foundation for the precise treatment of MDS.

The hematological, immunological, and other clinical features of 71 recently diagnosed MDS patients from January 1, 2019, to July 31, 2023, were retrospectively analyzed. These patients were categorized based on their gene mutations, and the variances in hematological and immunological characteristics among distinct groups were compared.

Hematological variances were observed among different gene mutation groups. Specifically, platelet counts in the splicing factor 3B subunit 1 ( SF3B1 ) mutation group were notably higher compared to the wild-type group ( p = 0.009). Conversely, in the additional sex combs like 1 ( ASXL1 ) mutation groups, monocyte ratios were significantly elevated in comparison to the wild-type group ( p = 0.046), and in the ten-eleven translocation 2 ( TET2 ) mutation group, lymphocyte ratios were significantly lower ( p = 0.022). Additionally, the leukocyte ( p = 0.005), neutrophil ratio ( p = 0.002), and lymphocyte ratio ( p = 0.001) were significantly higher in the Runt-related transcription factor 1 ( RUNX1 ) mutation group. Regarding immunological distinctions, the Natural Killer (NK) cell ratio demonstrated a significant increase in the SF3B1 mutation group ( p = 0.005). Moreover, the TET2 mutation group exhibited a significantly higher Interleukin-8 (IL-8) level ( p = 0.017). In contrast, the U2 small nuclear RNA auxiliary factor 1 ( U2AF1 ) group displayed significantly lower levels of IL-1 ( p = 0.033), IL-10 ( p = 0.033), and Tumour Necrosis Factor- (TNF- ) ( p = 0.009).

Distinct variations exist in the immune microenvironment of MDS associated with different genetic mutations. Further studies are imperative to delve into the underlying mechanisms that drive these differences.