天津医药

天津医药 ›› 2018, Vol. 46 ›› Issue (8): 837-841.doi: 10.11958/20181109

• 专题 综述 • 上一篇    下一篇

异基因造血干细胞移植治疗携带TP53、 TET2、 DNMT3A 基因突变的急性白血病/MDS的挑战

张睿1 ， 刘代红2   

  1. 1河北省沧州市中心医院血液内一科 （邮编061001）； 2解放军总医院血液科
  • 收稿日期:2018-07-20 修回日期:2018-07-24 出版日期:2018-08-15 发布日期:2018-08-23
  • 通讯作者: 刘代红 E-mail:daihongrm@163.com
  • 基金资助:
    国自然基金

The challenge for allogeneic hematopoietic stem cell transplantation in acute leukemia/ myelodyplastic syndrom with TP53, TET2 or DNMT3A gene mutations

ZHANG Rui 1 , LIU Dai-hong2△   

  1. 1 Department of Hematology, Cangzhou Central Hospital, Hebei 061001, China; 2 Department of Hematology, Chinese PLA General Hospital
  • Received:2018-07-20 Revised:2018-07-24 Published:2018-08-15 Online:2018-08-23

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摘要：  随着二代测序技术临床应用逐渐成熟， 在急性白血病/骨髓增生异常综合征 （MDS） 患者中不断有新的基因突变被发现， 并在临床中被证实对预后有重要影响。携带TP53、 TET2、 DNMT3A基因突变的此类疾病患者化疗缓解时间短， 3年无白血病存活率极低。异基因造血干细胞移植是唯一可能治愈此类疾病的手段， 但疗效远差于未携带上述基因突变者。去甲基化药物、 新型靶向药物及免疫靶向治疗有可能为此类疾病的综合治疗带来希望。本文就此类基因对于急性白血病/MDS的预后意义、 对异基因造血干细胞移植疗效的影响以及可能的治疗突破进行综述。

关键词: 造血干细胞移植, 白血病, 髓样, 急性, 白血病, 淋巴样, 骨髓增生异常综合征, 基因, p53, DNMT3A, TET2

Abstract: Recently, much gene mutations have been detected in patients with acute leukemia or myelodysplastic syndrome (MDS) using next-generation sequencing (NSG) technology. Some of them are proved to be important prognostic markers. It has been showed that TP53, TET2 or DNMT3A gene mutations are associated with poor prognosis in acute leukemia or MDS patients. The prognosis of these patients is poor with short remission and survival. Allogeneic hematopoietic stem cell transplantation is the only way to cure these patients. However, the outcomes after transplantation are inferior to those in patients without these mutations. The hypomethylating agents or immune targeting therapy might improve their prognosis when combined with the present strategies. Here, the impact of TP53, TET2 and DNMT3A gene mutations on the prognosis after chemotherapy or transplantation is reviewed.

Key words: hematopoietic stem cell transplantation, leukemia, myeloid, acute, leukemia, lymphoid, myelodysplastic syndromes, gene, p53, DNMT3A, TET2