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髓母细胞瘤相关遗传综合征的研究进展 被引量:5

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摘要 髓母细胞瘤是儿童期颅内高发肿瘤之一,分为Wnt亚型、Shh亚型、Group 3和Group 4亚型。手术切除肿瘤后可以辅以放疗和化疗,患者的5年无进展生存率可达50%~70%以上。部分患者伴有一些遗传性疾病,例如Gorlin-Goltz综合征、Li-Fraumeni综合征、家族性腺瘤性息肉病综合征等,不同综合征伴随着不同的胚系基因突变,其治疗方案、临床预后与患者的年龄、病理、分子亚型有密切关系。Shh亚型是合并基因胚系突变的高危亚型,需要常规行基因检测,以排除TP53、PTCH1、SUFU、GPR161、ELP1等基因胚系突变,其他亚型的发病率相对较低,但需要排除APC、PALB2、BRCA2等基因胚系突变。
作者 杨宝 姜涛
出处 《中华神经外科杂志》 CSCD 北大核心 2020年第9期970-972,共3页 Chinese Journal of Neurosurgery
基金 首都卫生科研发展专项(CFH 2018-2-2042)。
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