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

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.