Gaucher disease and cancer: concept and controversy.
Gaucher disease and cancer: concept and controversy.
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DOI：
10.1155/2011/150450
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发表时间：
2011
影响因子：
--
通讯作者：
Campbell TN
中科院分区：
文献类型：
--
作者：
Choy FY;Campbell TN
戈谢病是一种由溶酶体水解酶葡萄糖脑苷脂酶缺乏引起的遗传性疾病。其临床表现多样，最常见的特征是肝脾肿大、骨骼疾病和血细胞减少。根据是否存在神经系统受累，戈谢病被分为三种广泛的表型：1型（非神经元病性）、2型（急性神经元病性）和3型（亚急性神经元病性）。两种主要的治疗方案包括酶替代疗法和底物减少疗法。最近，围绕戈谢病和癌症之间的关联的讨论已经升级，关于戈谢病患者是否有恶性肿瘤风险增加的报道相互矛盾。在这篇综述中，我们提出的概念和争议周围的协会戈谢病与癌症。
Gaucher disease is an inherited disorder caused by a deficiency in the lysosomal hydrolase glucocerebrosidase. There is a wide spectrum of clinical presentations, with the most common features being hepatosplenomegaly, skeletal disease, and cytopenia. Gaucher disease has been classified into three broad phenotypes based upon the presence or absence of neurological involvement: Type 1 (nonneuronopathic), Type 2 (acute neuronopathic), and Type 3 (subacute neuronopathic). The two main treatment options include enzyme replacement therapy and substrate reduction therapy. Recently, discussion has escalated around the association of Gaucher disease and cancer, with conflicting reports as to whether Gaucher patients have an increased risk of malignancy. In this review, we present both the concept and controversy surrounding the association of Gaucher disease with cancer.