成人遗传性骨髓衰竭综合征异基因造血干细胞移植供者相关基因筛选的意义及疗效分析

朱丽丹; 张曦; 孔佩艳; 刘耀; 张诚; 高力; 马影影; 向茜茜; 刘俊; 高蕾

doi:10.16016/j.1000-5404.202006089

您当前的位置：

首页 >

文章列表页 >

成人遗传性骨髓衰竭综合征异基因造血干细胞移植供者相关基因筛选的意义及疗效分析

专题报道:血液肿瘤诊治新策略与临床应用 | 更新时间：2026-01-09

- 成人遗传性骨髓衰竭综合征异基因造血干细胞移植供者相关基因筛选的意义及疗效分析
- Clinical significance of screening donor related genes for allogeneic hematopoietic stem cell transplantation in treatment of inherited bone marrow failure syndrome in adults and analysis on clinical efficacy
- 第三军医大学学报 2020年42卷第17期页码：1730-1734
- 作者机构：
- 作者简介：
- 基金信息：
  
  陆军军医大学临床医学科研人才培养计划(2018XLC2012);重庆市自然科学基金重点项目(CSTC2019jcyj-zdxmX0023);肿瘤免疫病理学教育部重点实验室开放课题(2018jsz102)
- DOI：10.16016/j.1000-5404.202006089
  中图分类号：
- 收稿：2020-06-10，
  
  纸质出版：2020-09-15
- 稿件说明：
移动端阅览
朱丽丹, 张曦, 孔佩艳, 等. 成人遗传性骨髓衰竭综合征异基因造血干细胞移植供者相关基因筛选的意义及疗效分析[J]. 第三军医大学学报, 2020,42(17):1730-1734.

Lidan ZHU, Xi ZHANG, Peiyan KONG, et al. Clinical significance of screening donor related genes for allogeneic hematopoietic stem cell transplantation in treatment of inherited bone marrow failure syndrome in adults and analysis on clinical efficacy[J]. Journal of Third Military Medical University, 2020, 42(17): 1730-1734.
朱丽丹, 张曦, 孔佩艳, 等. 成人遗传性骨髓衰竭综合征异基因造血干细胞移植供者相关基因筛选的意义及疗效分析[J]. 第三军医大学学报, 2020,42(17):1730-1734. DOI： 10.16016/j.1000-5404.202006089.

Lidan ZHU, Xi ZHANG, Peiyan KONG, et al. Clinical significance of screening donor related genes for allogeneic hematopoietic stem cell transplantation in treatment of inherited bone marrow failure syndrome in adults and analysis on clinical efficacy[J]. Journal of Third Military Medical University, 2020, 42(17): 1730-1734. DOI： 10.16016/j.1000-5404.202006089.

摘要

Abstract

Objective

To investigate the effect of screening donor related genes for allogeneic hematopoietic stem cell transplantation (allo-HSCT) on the efficacy of the transplantation for adult patients with inherited bone marrow failure syndrome (IBMFS).

Methods

Clinical data of 65 adult BMFS patients undergoing allo-HSCT in our medical center from July 2014 to February 2019 were collected in this study. According to the results of bone marrow failure gene detection

the positive ones were assigned into IBMFS group and the negative into acquired bone marrow failure syndrome (ABMFS). Donor selection for IBMFS patients were performed based on the results of bone marrow failure gene of donor. While

for ABMFS patients

HLA-sibling donors

unrelated donors or HLA-haploid matched donors were selected according to the results of HLA matching. Then the hematopoietic reconstitution

transplantation related complications and total survival was observed.

Results

IBMFS was diagnosed in 5 patients out of the 65 patients (7.7%) due to positivity of bone marrow failure gene detection. Among the 5 IBMFS patients

3 cases underwent unrelated HLA-matched allo-HSCT because hematopoietic failure genes were detected in their related donors

and the other 2 cases received HLA-haploid allo-HSCT from their healthy related donors. There were no significant differences in donor hematopoietic implantation

acute and chronic graft-versus-host diseases

fever and cytomegalovirus infection between the IBMFS group and the ABMFS group. Till September 2019

all the 5 patients from the IBMFS group were survived

so were the 58 patients from the 60 ABMFS patients.

Conclusion

As long as healthy donors are selected according to bone marrow failure gene detection

adult IBMFS patients can achieve the same effect as ABMFS patients after allo-HSCT.

关键词

Keywords

references

BISWAJIT H PRATIM P P KUMAR S T Aplastic anemia: a common hematological abnormality among peripheral pancytopenia N Am J Med Sci 2012 4 9 384 388 10.4103/1947-2714.100980 BISWAJIT H, PRATIM P P, KUMAR S T, et al. Aplastic anemia: a common hematological abnormality among peripheral pancytopenia[J]. N Am J Med Sci, 2012, 4(9): 384-388. DOI:10.4103/1947-2714.100980.

SIEFF C A Introduction to acquired and inherited bone marrow failure Hematol Clin N Am 2018 32 4 569 580 10.1016/j.hoc.2018.04.008 SIEFF C A. Introduction to acquired and inherited bone marrow failure[J]. Hematol Clin N Am, 2018, 32(4): 569-580. DOI:10.1016/j.hoc.2018.04.008.

WEGMAN-OSTROSKY T SAVAGE S A The genomics of inherited bone marrow failure: from mechanism to the clinic Br J Haematol 2017 177 4 526 542 10.1111/bjh.14535 WEGMAN-OSTROSKY T, SAVAGE S A. The genomics of inherited bone marrow failure: from mechanism to the clinic[J]. Br J Haematol, 2017, 177(4): 526-542. DOI:10.1111/bjh.14535.

中华医学会儿科学分会血液学组《中华儿科杂志》编辑委员会儿童获得性再生障碍性贫血诊疗建议中华儿科杂志 2014 52 2 103 106 10.3760/cma.j.issn.0578-1310.2014.02.006 中华医学会儿科学分会血液学组, 《中华儿科杂志》编辑委员会.儿童获得性再生障碍性贫血诊疗建议[J].中华儿科杂志, 2014, 52(2): 103-106.DOI:10.3760/cma.j.issn.0578-1310.2014.02.006.

Hematology Group of Pediatrics Branch of Chinese Medical Association Editorial Board of The Chinese Journal of Pediatrics Advice on the diagnosis and treatment of acquired aplastic anemia in children Chin J Pediatr 2014 52 2 103 106 10.3760/cma.j.issn.0578-1310.2014.02.006 Hematology Group of Pediatrics Branch of Chinese Medical Association, Editorial Board of The Chinese Journal of Pediatrics. Advice on the diagnosis and treatment of acquired aplastic anemia in children[J]. Chin J Pediatr, 2014, 52(2): 103-106.DOI:10.3760/cma.j.issn.0578-1310.2014.02.006.

DALLE J H LATOUR R P Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes Int J Hematol 2016 103 4 373 379 10.1007/s12185-016-1951-0 DALLE J H, LATOUR R P. Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes[J]. Int J Hematol, 2016, 103(4): 373-379. DOI:10.1007/s12185-016-1951-0.

AYAS M EAPEN M LE-RADEMACHER J Second allogeneic hematopoietic cell transplantation for patients with fanconi anemia and bone marrow failure Biol Blood Marrow Transplant 2015 21 10 1790 1795 10.1016/j.bbmt.2015.06.012 AYAS M, EAPEN M, LE-RADEMACHER J, et al. Second allogeneic hematopoietic cell transplantation for patients with fanconi anemia and bone marrow failure[J]. Biol Blood Marrow Transplant, 2015, 21(10): 1790-1795. DOI:10.1016/j.bbmt.2015.06.012.

竺晓凡儿童骨髓衰竭综合征实用儿科临床杂志 2007 22 3 165 167 http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=syeklczz200703002 竺晓凡.儿童骨髓衰竭综合征[J].实用儿科临床杂志, 2007, 22(3): 165-167.

ZHU X F Bone marrow failure syndrome in children J Appl Clin Pediatr 2007 22 3 165 167 http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=syeklczz200703002 ZHU X F. Bone marrow failure syndrome in children[J]. J Appl Clin Pediatr, 2007, 22(3): 165-167.

CHIRNOMAS S D KUPFER G M The inherited bone marrow failure syndromes Pediatr Clin N Am 2013 60 6 1291 1310 10.1016/j.pcl.2013.09.007 CHIRNOMAS S D, KUPFER G M. The inherited bone marrow failure syndromes[J]. Pediatr Clin N Am, 2013, 60(6): 1291-1310. DOI:10.1016/j.pcl.2013.09.007.

WEST A H CHURPEK J E Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes Hematol Am Soc Hematol Educ Program 2017 2017 1 79 87 10.1182/asheducation-2017.1.79 WEST A H, CHURPEK J E. Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes[J]. Hematol Am Soc Hematol Educ Program, 2017, 2017(1): 79-87. DOI:10.1182/asheducation-2017.1.79.

XU L P XU Z L WANG F R Unmanipulated haploidentical transplantation conditioning with busulfan, cyclophosphamide and anti-thymoglobulin for adult severe aplastic anaemia Bone Marrow Transplant 2018 53 2 188 192 10.1038/bmt.2017.237 XU L P, XU Z L, WANG F R, et al. Unmanipulated haploidentical transplantation conditioning with busulfan, cyclophosphamide and anti-thymoglobulin for adult severe aplastic anaemia[J]. Bone Marrow Transplant, 2018, 53(2): 188-192. DOI:10.1038/bmt.2017.237.

ZENG Y J WANG S B WANG J S Optimal donor for severe aplastic anemia patient requiring allogeneic hematopoietic stem cell transplantation: a large-sample study from China Sci Rep 2018 8 1 2479 10.1038/s41598-018-20853-9 ZENG Y J, WANG S B, WANG J S, et al. Optimal donor for severe aplastic anemia patient requiring allogeneic hematopoietic stem cell transplantation: a large-sample study from China[J]. Sci Rep, 2018, 8(1): 2479. DOI:10.1038/s41598-018-20853-9.

GAO L LIU J ZHANG Y Q Low incidence of acute graft-versus-host disease with short-term tacrolimus in haploidentical hematopoietic stem cell transplantation Leuk Res 2017 57 27 36 10.1016/j.leukres.2017.02.006 GAO L, LIU J, ZHANG Y Q, et al. Low incidence of acute graft-versus-host disease with short-term tacrolimus in haploidentical hematopoietic stem cell transplantation[J]. Leuk Res, 2017, 57: 27-36. DOI:10.1016/j.leukres.2017.02.006.

NARAYANAN S Managing anaemia in bone marrow failure syndromes Curr Opin Support Palliat Care 2018 12 4 538 541 10.1097/SPC.0000000000000397 NARAYANAN S. Managing anaemia in bone marrow failure syndromes[J]. Curr Opin Support Palliat Care, 2018, 12(4): 538-541. DOI:10.1097/SPC.0000000000000397.

DIETZ A C SAVAGE S A VLACHOS A Late effects screening guidelines after hematopoietic cell transplantation for inherited bone marrow failure syndromes: consensus statement from the second pediatric blood and marrow transplant consortium international conference on late effects after pediatric HCT Biol Blood Marrow Transplant 2017 23 9 1422 1428 10.1016/j.bbmt.2017.05.022 DIETZ A C, SAVAGE S A, VLACHOS A, et al. Late effects screening guidelines after hematopoietic cell transplantation for inherited bone marrow failure syndromes: consensus statement from the second pediatric blood and marrow transplant consortium international conference on late effects after pediatric HCT[J]. Biol Blood Marrow Transplant, 2017, 23(9): 1422-1428. DOI:10.1016/j.bbmt.2017.05.022.

PARIKH S BESSLER M Recent insights into inherited bone marrow failure syndromes Curr Opin Pediatr 2012 24 1 23 32 10.1097/MOP.0b013e32834eca77 PARIKH S, BESSLER M. Recent insights into inherited bone marrow failure syndromes[J]. Curr Opin Pediatr, 2012, 24(1): 23-32. DOI:10.1097/MOP.0b013e 32834eca77.

MURAMATSU H OKUNO Y YOSHIDA K Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes Genet Med 2017 19 7 796 802 10.1038/gim.2016.197 MURAMATSU H, OKUNO Y, YOSHIDA K, et al. Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes[J]. Genet Med, 2017, 19(7): 796-802. DOI:10.1038/gim.2016.197.

ALTER B P Inherited bone marrow failure syndromes: considerations pre- and posttransplant Blood 2017 130 21 2257 2264 10.1182/blood-2017-05-781799 ALTER B P. Inherited bone marrow failure syndromes: considerations pre- and posttransplant[J]. Blood, 2017, 130(21): 2257-2264. DOI:10.1182/blood-2017-05-781799.

浏览量

下载量

CSCD

文章被引用时，请邮件提醒。

提交

工具集

关联资源

伊布替尼治疗造血干细胞移植后自身免疫性血细胞减少2例报告并文献复习

未去除T细胞的单倍型相合造血干细胞移植的研究进展

异基因造血干细胞移植治疗年轻慢性淋巴细胞白血病患者3例

重视造血干细胞移植中的造血微环境问题