关键词: BRAF-V600E case report dabrafenib papillary craniopharyngioma trametinib

Mesh : Adult Antineoplastic Combined Chemotherapy Protocols / therapeutic use Craniopharyngioma / drug therapy genetics pathology Humans Male Mutation Oximes / therapeutic use Pituitary Neoplasms / drug therapy genetics surgery Protein Kinase Inhibitors / therapeutic use Proto-Oncogene Proteins B-raf / genetics Pyridones / therapeutic use Pyrimidinones / therapeutic use

来  源:   DOI:10.1111/jcpt.13600

Abstract:
OBJECTIVE: The BRAF-V600E genetic mutation offers a potential targeted therapy for the treatment of papillary craniopharyngiomas.
METHODS: A 35-year-old man underwent a craniotomy and subtotal resection of a large BRAF-V600E-positive papillary craniopharyngioma before referral to our institution. Our treatment included the BRAF-V600 inhibitor dabrafenib mesylate (75 mg, twice/day) and trametinib dimethyl sulfoxide (2 mg/day). The residual tumour decreased in size by 95% over 21 months without negative side effects.
CONCLUSIONS: We reviewed the literature on BRAF-V600E inhibition as a non-invasive method of treating papillary craniopharyngiomas harbouring the BRAF-V600E mutation.
摘要:
目的:BRAF-V600E基因突变为乳头状颅咽管瘤的治疗提供了潜在的靶向治疗。
方法:一名35岁的男子在转诊到我们机构之前接受了一个大型BRAF-V600E阳性乳头状颅咽管瘤的开颅手术和次全切除术。我们的治疗包括BRAF-V600抑制剂甲磺酸达布拉非尼(75毫克,两次/天)和曲美替尼二甲基亚砜(2mg/天)。在21个月内,残留肿瘤的大小减少了95%,没有负面影响。
结论:我们回顾了关于BRAF-V600E抑制作为一种非侵入性方法治疗具有BRAF-V600E突变的乳头状颅咽管瘤的文献。
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