Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease caused by mutations in the SBDS gene in approximately 90% of cases. SDS is characterized by exocrine pancreatic insufficiency and bone marrow failure, which predisposes to the development of myelodysplastic syndrome and/or acute myeloid leukemia. In a new report, the French national cohort studied 102 SDS patients with a median follow-up of 11.6 years, focusing on the natural history of severe cytopenias. The authors concluded that SDS patients with a young age (<3 months) at first symptomatic presentation or cytopenia at diagnosis were at a high risk of subsequent severe hematological complications (either malignant or nonmalignant). Their findings raise the possibility that a clinical algorithm may predict the subsequent development of hematological complications in SDS.