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

• Main Authors: ZHU Lidan, ZHANG Xi, KONG Peiyan, LIU Yao, ZHANG Cheng
• Format: Article
• Language: zho
• Published: Editorial Office of Journal of Third Military Medical University 2020-09-01
• Series: Di-san junyi daxue xuebao
• Subjects: bone marrow failure gene; inherited bone marrow failure syndrome; hematopoietic stem cell transplantation; adults
• Online Access: http://aammt.tmmu.edu.cn/Upload/rhtml/202006089.htm

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.