Expert Reviews in Molecular Medicine

Review Article

Shwachman–Diamond syndrome: implications for understanding the molecular basis of leukaemia

Yigal Drora1

a1 Cell Biology Program, Research Institute and the Marrow Failure and Myelodysplasia Program, Division of Haematology/Oncology, The Hospital for Sick Children and the University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. Tel. +1 416 813 8886; Fax: +1 416 813 5327; E-mail:


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.