2020 年第 12 期 第 15 卷

骨髓增生异常综合征遗传易感人群的监测和治疗研究进展

Progress in monitoring and treatment of genetically susceptible patients with myelodysplastic syndrome

作者：王文儒1唐玉凤1唐旭东2

英文作者：Wang Wenru1 Tang Yufeng1 Tang Xudong2

单位：1中国中医科学院西苑医院血液科，北京100091；2中国中医科学院西苑医院检验科，北京100091

英文单位：1Department of Hematology Xiyuan Hospital Affiliated to China Academy of Chinese Medical Sciences Beijing 100091 China; 2Department of Laboratory Xiyuan Hospital Affiliated to China Academy of Chinese Medical Sciences Beijing 100091 China

关键词：骨髓增生异常综合征;遗传易感性；骨髓监测；血常规

英文关键词：Myelodysplasticsyndrome;Geneticalsusceptibility;Myelogrammonitoring;Routinebloodtest

• 摘要：

• 遗传性骨髓衰竭综合征和部分携带胚系突变基因的患者发展为骨髓增生异常综合征(MDS)风险较高且预后差，对这类MDS遗传易感人群需定期进行血常规和骨髓检测，并需特别注意MDS相关染色体和基因的改变。对于携带突变的家庭成员也需进行血液学监测。MDS遗传易感人群在病情发展为恶性髓系血液系统疾病前应积极予以治疗，造血干细胞移植是最佳方法。其中范科尼贫血、舒-戴二氏综合征和先天性角化不良等遗传性骨髓衰竭综合征因对DNA损伤敏感，需选择低剂量和避免辐射的移植策略，GATA2和RUNX1胚系突变虽可采用常规的MDS治疗方法，但GATA2缺乏症患者应考虑免疫抑制导致的严重感染对移植方案的影响。此外，对于未移植和待移植患者应及时予以支持和对症治疗。

• Inherited bone marrow failure syndrome and some patients with germline mutation genes are at higher risk of developing myelodysplastic syndrome (MDS) and have a poor prognosis. Regular blood routine and bone marrow testing should be performed for these genetically susceptible people, and special attention should be paid to changes in MDS-related chromosomes and genes. Hematology monitoring is also required for family members with mutations. People with MDS genetic susceptibility should be actively treated before the disease progresses to malignant myeloid hematologic diseases. Hematopoietic stem cell transplantation is the best method. Hereditary bone marrow failure syndroms such as Fanconi anemia, Schrader syndrome, and congenital malformation of keratinosis are sensitive to DNA damage and require low-dose and radiation-free transplantation strategies GATA2 and RUNX1 germline mutations can be treated with conventional MDS, but patients with GATA2 deficiency should consider the impact of severe infections caused by immunosuppression on transplantation. In addition, support and symptomatic treatment should be provided in time to patients  who have not been transplanted or are to be transplanted.