A large international study has found that people with Shwachman–Diamond syndrome face a high risk of developing myeloid blood cancer, and that early stem cell transplant may improve survival for those most at risk.
The findings, published in the New England Journal of Medicine, draw on data from 847 patients across multiple countries — making it one of the largest studies of this rare inherited condition to date. Shwachman–Diamond syndrome (SDS) is a genetic disorder that affects the bone marrow’s ability to produce healthy blood cells, among other organs. The research found that patients with the condition faced a high risk of myeloid cancer — a group of blood cancers that start in the bone marrow — and that survival outcomes were poor.
The study also found that early haematopoietic stem cell transplantation (HSCT) — a procedure in which a patient receives healthy blood-forming stem cells from a donor — showed a potential benefit for patients identified as high-risk. The journal posted the findings on its official account.
SDS is a rare condition, typically diagnosed in childhood, that affects the pancreas, bone marrow and skeletal development. Because it is uncommon, large-scale data on long-term outcomes have historically been limited — which is what makes this cohort of 847 patients significant to researchers and clinicians.
The case for earlier intervention is what the study’s authors appear to be building. Identifying high-risk features sooner, and acting on them with transplant, may change the outlook for some patients.
Source: @NEJM