Outcomes of allogeneic hematopoietic stem cell transplantation in Shwachman-Diamond syndrome: a systematic review and meta-analysis

We conducted a systematic review and meta-analysis to evaluate the outcomes of Allogeneic hematopoietic stem cell transplantation (Allo-HSCT) in the treatment of Shwachman-Diamond syndrome (SDS). A literature search was performed on PubMed, Embase, and Web of Science. After screening 397 articles, 10 studies were included. Data was extracted in accordance with the PRISMA guidelines and analyzed using the R 'meta' package. The pooled median 3 (1-5)-year overall survival (OS) after Allo-HSCT were 63.7% (95% CI 56.9-70.2%), 80.3% (95% CI 68.% 5-92.1%), 41.1% (95% CI 21.7-60.4%), 48.9% (95% CI 29.0-68.9%), and 8.7% (95% CI 0.0-60.8%) in SDS patients, SDS patients with bone marrow failure (BMF), SDS patients with myeloid neoplasms (MN), SDS patients with myelodysplastic syndrome (MDS), and SDS patients with acute myeloid leukemia (AML), respectively. Allo-HSCT is an efficacious approach for treating SDS patients with severe hematologic complications. However, poor outcomes were revealed in SDS patients with MN with a pooled 3 (1-5)-year relapse rate (RR) after Allo-HSCT of 25.8% (95% CI 12.5-39.0%), and a pooled 3-year non-relapse mortality (NRM) was 52.6% (95% CI 34.2-70.9%). These findings were consistent with the clinical findings that transplant-related complications are the main cause of the poor transplantation prognosis of SDS patients with MN. Efficacious bone marrow conditioning regimens, graft-versus-host disease (GVHD) prevention, and bridging treatment regimens are potential means to improve the transplantation prognosis of SDS patients.