基因突变与含砷化合物青黄散（）治疗骨髓增生异常综合征患者反应的相关性研究。
Association of Gene Mutations with Response to Arsenic-Containing Compound Qinghuang Powder () in Patients with Myelodysplastic Syndromes.
机构信息
Department of Hematology, Xiyuan Hospital, China Academy of Chinese Medical Sciences, Beijing, 100091, China.
Annoroad Gene Technology Co. Ltd., Beijing, 100176, China.
出版信息
Chin J Integr Med. 2019 Jun;25(6):409-415. doi: 10.1007/s11655-018-2977-3. Epub 2018 Apr 4.
OBJECTIVES
To investigate the relationship between gene mutations and response to Compound Qinghuang Powder (, CQHP) in patients with myelodysplastic syndrome (MDS).
METHODS
Forty-three MDS patients were genotyped by ultra-deep targeted sequencing and the clinical data of patients were collected and the relationship between them was analyzed.
RESULTS
Up to 41.86% of patients harbored genet mutations, in most cases with more than one mutation. The most common mutations were in SF3B1, U2AF1, ASXL1, and DNMT3A. After treatment with CQHP, about 88.00% of patients no longer required blood transfusion, or needed half of prior transfusions.
CONCLUSIONS
CQHP is an effective treatment for patients with MDS, especially those with gene mutations in SF3B1, DNMT3A, U2AF1, and/or ASXL1.
目的
探讨基因突变为骨髓增生异常综合征（MDS）患者对复方青黛散（CQHP）反应的关系。
方法
采用超深度靶向测序对 43 例 MDS 患者进行基因分型，并收集患者的临床资料，分析两者之间的关系。
结果
多达 41.86%的患者存在基因突变，大多数患者存在一种以上的突变。最常见的突变发生在 SF3B1、U2AF1、ASXL1 和 DNMT3A 基因上。经 CQHP 治疗后，约 88.00%的患者不再需要输血，或仅需以前输血的一半。
结论
CQHP 是治疗 MDS 患者的有效方法，特别是对 SF3B1、DNMT3A、U2AF1 和/或 ASXL1 基因突变的患者。
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