Shahrabi Saeid, Khosravi Abbas, Shahjahani Mohammad, Rahim Fakher, Saki Najmaldin
Department of Biochemistry and Hematology, Semnan University of Medical Sciences , Semnan.
Health Research Institute, Thalassemia and Hemoglobinopathy Research Center, Ahvaz Jundishapur University of Medical Sciences , Ahvaz.
Oncol Rev. 2016 Dec 14;10(2):311. doi: 10.4081/oncol.2016.311. eCollection 2016 Oct 10.
Myelodysplastic syndromes (MDS) are a heterogeneous group of hematologic neoplasms ocurring mostly in the elderly. The clinical outcome of MDS patients is still poor despite progress in treatment approaches. About 90% of patients harbor at least one somatic mutation. This review aimed to assess the potential of molecular abnormalities in understanding pathogenesis, prognosis, diagnosis and in guiding choice of proper therapy in MDS patients. Papers related to this topic from 2000 to 2016 in PubMed and Scopus databases were searched and studied. The most common molecular abnormalities were TET2, ASXL1 as well as molecules involved in spliceosome machinery (U2AF1, SRSF2 and SF3B1). Patients with defects in TET2 molecule show better response to treatment with azacitidine. IDH and DNMT3A mutations are associated with a good response to decitabine therapy. In addition, patients with del5q subtype harboring TP53 mutation do not show a good response to lenalidomide therapy. In general, the results of this study show that molecular abnormalities can be associated with the occurrence of a specific morphological phenotype in patients. Therefore, considering the morphology of patients, different gene profiling methods can be selected to choice the most appropriate therapeutic measure in these patients in addition to faster and more cost-effective diagnosis of molecular abnormalities.
骨髓增生异常综合征（MDS）是一组异质性血液系统肿瘤，主要发生于老年人。尽管治疗方法有所进展，但MDS患者的临床结局仍然较差。约90%的患者至少存在一种体细胞突变。本综述旨在评估分子异常在理解MDS患者发病机制、预后、诊断以及指导选择合适治疗方法方面的潜力。检索并研究了2000年至2016年在PubMed和Scopus数据库中与该主题相关的论文。最常见的分子异常是TET2、ASXL1以及参与剪接体机制的分子（U2AF1、SRSF2和SF3B1）。TET2分子存在缺陷的患者对阿扎胞苷治疗反应较好。异柠檬酸脱氢酶（IDH）和DNA甲基转移酶3A（DNMT3A）突变与地西他滨治疗的良好反应相关。此外，携带TP53突变的5q缺失亚型患者对来那度胺治疗反应不佳。总体而言，本研究结果表明分子异常可能与患者特定形态学表型的发生有关。因此，考虑患者形态学，除了能更快、更具成本效益地诊断分子异常外，还可选择不同的基因谱分析方法为这些患者选择最合适的治疗措施。
