Cytogenetics of Shwachman Diamond syndrome: 27 years report of the Italian cohort and review of the literature

Shwachman-Diamond syndrome (SDS1) is an autosomal recessive disorder principally characterized by exocrine pancreatic insufficiency, a mild to severe bone marrow failure, peripheral blood cytopenias and an increased risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Since 1995 several cytogenetic studies were performed mainly in relation to the myelodysplastic/myeloproliferative risk, and recurrent chromosome changes in bone marrow (BM) were discovered. In this paper we extensively reviewed the cytogenetic studies in SDS patients, and the related significance highlighted over the years. The conclusions were drawn from analyses of our large Italian cohort by long-term monitoring (up to 27 years), together with a comprehensive review of the literature.