Sun Chao, Zhang Sujiang, Qiao Chun, Yang Xiangchou, Li Jianyong
Department of Hematology, Wuxi People's Hospital, Affiliated to Nanjing Medical University, Wuxi, Jiangsu 214023, China.
Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, Jiangsu 210029, China.
Chin Med J (Engl). 2014;127(24):4215-9.
Spliceosome mutations have been recently identified and associated with hematological malignancies. SRSF2, one of components of the splicing machinery, has a high mutation frequency during chronic myelomonocytic leukemia, according to previous reports. However, the relevance of this finding in Chinese populations remains unknown.
We recruited 50 Chinese patients with chronic myelomonocytic leukemia to analyze the state of SRSF2 and to assess the corresponding clinical features by polymerase chain reaction followed by direct sequencing.
Ten of 50 patients (20%) harbored SRSF2 mutations, including five P95R, two 95H, and three P95L point mutations. The patient group was older than the wild type group (P < 0.01). No significant statistical differences were observed with regard to the other clinical characteristics (sex, peripheral blood count, serum lactate dehydrogenase, karyotype, World Health Organization classification, etc.) between these two groups. Two of the patients showed an early evolution to acute myeloid leukemia.
SRSF2 mutations are frequent in chronic myelomonocytic leukemia patients, but show a relatively lower incidence in Chinese patients. Moreover, the mutation can be related to old age and an unfavorable prognosis. Our results provide valuable insights for the development of a diagnostic marker, or for the identification of a therapeutic target for chronic myelomonocytic leukemia.
剪接体突变最近已被鉴定出来，并与血液系统恶性肿瘤相关。根据先前的报道，剪接机制的组成成分之一SRSF2在慢性粒单核细胞白血病期间具有较高的突变频率。然而，这一发现在中国人群中的相关性仍不清楚。
我们招募了50例中国慢性粒单核细胞白血病患者，通过聚合酶链反应随后直接测序来分析SRSF2的状态并评估相应的临床特征。
50例患者中有10例（20%）存在SRSF2突变，包括5例P95R、2例95H和3例P95L点突变。患者组比野生型组年龄更大（P < 0.01）。两组之间在其他临床特征（性别、外周血细胞计数、血清乳酸脱氢酶、核型、世界卫生组织分类等）方面未观察到显著统计学差异。其中2例患者早期进展为急性髓系白血病。
SRSF2突变在慢性粒单核细胞白血病患者中很常见，但在中国患者中的发生率相对较低。此外，该突变可能与老年及不良预后有关。我们的结果为慢性粒单核细胞白血病诊断标志物的开发或治疗靶点的鉴定提供了有价值的见解。
