Gotoh Nanami, Munkh-Erdene Tsatsralgerel, Hayashi Ai, Kasamatsu Tetsuhiro, Kitamura Miri, Kojima Asumi, Okawa Takafumi, Oda Tsukasa, Miyauchi Eiji, Sasaki Nobuo, Matsumura Ikuko, Matsumoto Akira, Takei Hisashi, Kobayashi Nobuhiko, Miyazawa Yuri, Ogawa Yoshiyuki, Handa Hiroshi, Saitoh Takayuki
Department of Laboratory Science, Graduate School of Health Sciences, Gunma University, Maebashi, 371-8514, Gunma, Japan.
Faculty of Medical Technology and Clinical Engineering, Gunma University of Health and Welfare, Maebashi, Japan.
Ann Hematol. 2025 Sep 19. doi: 10.1007/s00277-025-06614-5.
Chronic inflammation is increasingly recognized as a key contributor to tumorigenesis, promoting genomic instability, immune evasion, and malignant transformation. Inflammatory cytokines are particularly involved in the pathogenesis and progression of myelodysplastic syndromes (MDS). This study examined the impact of three cytokine polymorphisms-IFNG + 874 A/T, TNFA - 857 C/T, and IL1B -31 C/T-on MDS susceptibility and clinical characteristics. A total of 105 patients with MDS and 117 healthy Japanese controls were analyzed. High-expression TNFA - 857 C/T was significantly associated with adverse risk categories by the revised International Prognostic Scoring System (high or very high: non-CC vs. CC = 36.4% vs. 7.2%, p < 0.001) and an increased likelihood of transformation to leukemia (non-CC vs. CC = 30.3% vs. 11.6%, p = 0.02). Similarly, IFNG + 874 A/T correlated with a higher risk of leukemic progression (non-AA vs. AA = 33.3% vs. 14.3%, p = 0.04). Moreover, high-expression genotypes of TNFA and IL1B were linked to increased chromosomal abnormalities. In conclusion, our results indicate that high-expression cytokine polymorphisms may contribute to more aggressive forms of MDS. Our findings reveal that the TNFA-857 C/T polymorphism is strongly associated with MDS severity and progression, suggesting its potential as a prognostic biomarker.
