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Rhabdomyosarcoma: Flexibility could be important

机译:横纹肌肉瘤:灵活性可能很重要

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Craniopharyngiomas are a rare and exceedingly difficult-to-treat type of brain tumour that can be further divided into papillary and adamantinomatous subtypes. A whole-exome sequencing study of patient tumour samples identified a single driver mutation in each subtype: a 6RAFV600E mutation for papillary craniopharyngiomas and a p-catenin mutation for adamantinomatous craniopharyngiomas. These mutations are mutually exclusive and clonal, and they can be used to classify these tumour types in patients. Furthermore, there are currently targeted therapies for the 8RAP600E mutation that could be used to treat papillary craniopharyngiomas.
机译:颅咽管瘤是一种罕见且极难治疗的脑肿瘤,可进一步分为乳头状和金刚毛状亚型。一项针对患者肿瘤样本的全外显子测序研究确定了每种亚型中的单个驱动基因突变:乳头颅咽咽管瘤的6RAFV600E突变和金刚狼疮颅咽管瘤的p-catenin突变。这些突变是互斥和克隆的,可用于对患者中的这些肿瘤类型进行分类。此外,当前有针对8RAP600E突变的靶向疗法,可用于治疗乳头状颅咽管瘤。

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