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施瓦赫曼-戴蒙德综合征：对理解白血病分子基础的启示

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

作者信息

Dror Yigal

机构信息

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.

出版信息

Expert Rev Mol Med. 2008 Dec 23;10:e38. doi: 10.1017/S1462399408000938.

DOI:10.1017/S1462399408000938
PMID:19102804
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.

摘要

遗传性骨髓衰竭综合征为理解白血病发生提供了极为有用的遗传模型，因为初始遗传缺陷能够被识别，且白血病风险非常高。施瓦赫曼-戴蒙德综合征是最常见的遗传性骨髓衰竭综合征之一，也是这类模型的一个例子。在此，我描述了施瓦赫曼-戴蒙德综合征的恶性特征，并讨论了可能导致白血病的潜在分子机制。

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