myelodysplastic syndrome<\/a> (MDS), acute myeloid leukaemia (AML), and bone marrow failure increased\u00a0substantially with\u00a0age, while outcomes following transplantation appeared better when HCT was performed before malignant transformation.\u00a0<\/p>\nTracking Haematological Disease Across the Lifespan\u00a0<\/p>\n
SDS is a rare inherited bone marrow failure syndrome associated with haematological abnormalities and an increased risk of myeloid malignancies.\u00a0<\/p>\n
For the study, the\u00a0international research team assembled a large cohort of patients with SDS, examining haematological complications and long-term outcomes from infancy through adulthood.\u00a0<\/p>\n
More than 90% of children with SDS survived beyond 20 years of age, but long-term survival declined\u00a0substantially thereafter.\u00a0<\/p>\n
By the age of 50 years, the cumulative risk of MDS, AML, or bone marrow failure approached 78%, highlighting the progressive haematological burden associated with the condition.\u00a0<\/p>\n
Researchers also examined whether\u00a0identifying\u00a0high-risk features before overt malignancy could\u00a0provide\u00a0an opportunity for earlier intervention.\u00a0<\/p>\n
Earlier Transplant Associated\u00a0with\u00a0Better Survival\u00a0<\/p>\n
High-risk features included the emergence of abnormal clones of mutated bone marrow cells and evidence of progressive dysplasia.\u00a0<\/p>\n
Among 24 patients who underwent HCT after developing high-risk features but before overt malignancy, approximately 82% were alive two years after transplantation.\u00a0<\/p>\n
In comparison, two-year survival was approximately 55% among patients transplanted after MDS had developed and 36% among those transplanted following AML.\u00a0<\/p>\n
The findings suggest that waiting for malignant transformation before\u00a0proceeding\u00a0to transplantation may be associated with poorer outcomes.\u00a0<\/p>\n
Could Surveillance Enable Earlier Intervention?\u00a0<\/p>\n
The researchers propose that close haematological and molecular surveillance could help\u00a0identify\u00a0patients approaching malignant transformation and\u00a0provide\u00a0an opportunity for HCT at an earlier stage.\u00a0<\/p>\n
Increasing access to genetic testing may also lead to more people with SDS being diagnosed before severe haematological complications develop.\u00a0<\/p>\n
However, HCT carries substantial\u00a0risks\u00a0and the findings do not mean that all patients with SDS should undergo transplantation at an early age. Further research is\u00a0required\u00a0to\u00a0establish\u00a0which combinations of molecular and clinical features most reliably\u00a0identify\u00a0patients who would\u00a0benefit\u00a0from pre-emptive treatment.\u00a0<\/p>\n
Access to transplantation may also be limited in lower-resource settings.\u00a0<\/p>\n
The findings support continued surveillance throughout the lifespan and further evaluation of risk-adapted HCT strategies aimed at preventing progression to MDS and AML.\u00a0<\/p>\n
Reference\u00a0<\/p>\n
Myers KC\u00a0et al. Cumulative hematologic morbidity and outcomes in\u00a0Shwachman-Diamond syndrome. N Engl J Med. 2026. doi:10.1056\/NEJMc2605001.\u00a0<\/p>\n
Featured image:\u00a0\u202fVadim\u00a0on\u00a0AdobeStock\u00a0<\/p>\n","protected":false},"excerpt":{"rendered":"EARLIER haematopoietic cell transplantation (HCT) could improve survival among patients with\u00a0Shwachman-Diamond syndrome (SDS) who develop features\u00a0indicating\u00a0a high risk\u00a0of…\n","protected":false},"author":2,"featured_media":909678,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[64,63,137],"class_list":["post-909677","post","type-post","status-publish","format-standard","has-post-thumbnail","category-health","tag-au","tag-australia","tag-health"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/posts\/909677","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/comments?post=909677"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/posts\/909677\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/media\/909678"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/media?parent=909677"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/categories?post=909677"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/tags?post=909677"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}