title: Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia.
abstract: Inherited bone marrow failure syndromes provide extremely useful genetic models for understanding leukaemogenesis because the initial genetic defect can be identified and the risk of leukaemia is very high. Shwachman-Diamond syndrome is one of the most common inherited bone marrow failure syndromes and an example of such a model. Here, I describe the malignant features of Shwachman-Diamond syndrome and discuss the potential molecular mechanisms that can lead to leukaemia.
authors.affiliation: Division of Haematology/Oncology, Marrow Failure and Myelodysplasia Program,Cell Biology Program, Research Institute The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada. yigal.dror@sickkids.ca
authors.forename: Yigal
authors.initials: Y
authors.lastname: Dror
mesh_terms: D000818:Animals; D001853:Bone Marrow / Q000378:metabolism / Q000473:pathology; D002471:Cell Transformation, Neoplastic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D015870:Gene Expression; D020022:Genetic Predisposition to Disease; D006801:Humans; D007938:Leukemia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D013577:Syndrome
chemical_list: D011506:Proteins; C470521:SBDS protein, human