Systematic review of the impact of germline mutations from unrelated bone marrow donors on post-allogeneic transplantation.
This systematic review identified five human studies reporting associations between germline variants in unrelated hematopoietic stem-cell donors—including TGFβ1, IFNL4, ALDH2, and TLR genes—and survival, transplant-related mortality, infection deaths, or graft-versus-host disease after allogeneic transplantation.
Open original publication →What the AI sees
This systematic review identified five human studies reporting associations between germline variants in unrelated hematopoietic stem-cell donors—including TGFβ1, IFNL4, ALDH2, and TLR genes—and survival, transplant-related mortality, infection deaths, or graft-versus-host disease after allogeneic transplantation.
Research significance
The evidence supports associations between selected donor germline variants and post-transplant outcomes; it is an untested inference that prospective donor genotyping could improve donor selection or risk-adapted management, and the supplied record does not establish pediatric benefit or clinical utility.
Source abstract
INTRODUCTION: Germline mutations are screened at hematological disease's patients, and their investigation is crucial for right diagnose and treatment, that can be allogeneic hematopoietic stem cell transplantation (HSCT). However, unrelated donors are not tested for any mutation. The objective of this systematic review was to search articles that studied germline mutation from unrelated donors on post-allogeneic transplantation. METHODS: Six researchers searched for studies in four databases, PubMed, Scope, Embase and Web of Science. STREGA was used to analyze bias. Abstract available, English language, studies in human and the disclosure of unrelated HSCT were the inclusion criteria. In vitro, in silico, in animals and children, case report, editorials, reviews, letters, comments to the editor, related donors and not attending to the objective, for exclusion. The systematic review was registered on PROSPERO (CRD420251040572). RESULTS: 883 articles were found and after following inclusion and exclusion criteria and PRISMA statement, five studies were selected. Authors identified germline mutation at TGFβ1, IFNL4, ALDH2, TLR1-2-4 that were associated with overall survival, non-relapse mortality, treatment related mortality, infections deaths and graft-versus-host disease. CONCLUSIONS: It was possible to understand the impact of unrelated donors IFNL4-positive, TLR1 rs5743551 G/G and TLR4 rs11536889 G/G on post allogeneic hematopoietic stem cell transplantation.