摘要SRSF2基因编码关键剪接体蛋白富含丝氨酸/精氨酸剪接因子(SRSF)2。越来越多的研究证据证实, SRSF2在机体生理和病理过程中发挥重要作用。 SRSF2突变导致异常的RNA剪接,影响细胞的功能,可能与髓系肿瘤的发病机制相关。 SRSF2突变在不同髓系肿瘤患者中的分布和影响存在差异,急性髓细胞白血病(AML)患者的 SRSF2突变频率为0.7%~5.6%,骨髓增生异常肿瘤(MDS)患者为12.0%~15.0%,慢性粒-单核细胞白血病(CMML)患者则接近50.0%。 SRSF2突变虽然常见于CMML患者,但是对CMML患者的预后影响迄今尚未知。大部分研究结果显示, SRSF2突变在AML及MDS患者中提示预后不良,与患者较短的生存期相关。笔者拟就AML、CMML及MDS患者 SRSF2突变情况的研究现状进行阐述,从而探讨 SRSF2突变在髓系肿瘤患者预后中的作用及可能的致病机制。
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abstractsSRSF2 encodes a crucial spliceosomal protein serine/arginine-rich splicing factor (SRSF)2. Increasing evidence confirms the significance of SRSF2 in both physiological and pathological processes. SRSF2 mutation results in aberrant RNA splicing, affecting cellular function, which may be associated with the pathogenesis of myeloid neoplasms. There are differences in distribution and effects of SRSF2 mutation in different patients with myeloid neoplasms. Frequency of SRSF2 mutation in acute myeloid leukemia (AML) patients ranges from 0.7% to 5.6%, in myelodysplastic neoplasms (MDS) patients that ranges from 12.0% to 15.0%, and in chronic myelomonocytic leukemia (CMML) patients that is nearly 50%. Although SRSF2 mutation is common in CMML patients, the prognostic impact on patients is unknown. Whereas, most studies have shown that SRSF2 mutation has a poor prognosis in patients with AML and MDS and is associated with a shorter survival time in them. This article elaborates on SRSF2 mutation in AML, CMML and MDS patients, to explore the prognostic role of SRSF2 mutation in patients with myeloid neoplasms and possible pathogenic mechanisms.
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