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用达拉非尼治疗的伴有BRAF V600E突变的复发性乳头状颅咽管瘤:病例报告

Recurrent papillary craniopharyngioma with BRAF V600E mutation treated with dabrafenib: case report.

作者信息

Himes Benjamin T, Ruff Michael W, Van Gompel Jaimie J, Park Sean S, Galanis Evanthia, Kaufmann Timothy J, Uhm Joon H

机构信息

Departments of1Neurological Surgery.

2Neurology.

出版信息

J Neurosurg. 2018 Apr 27;130(4):1299-1303. doi: 10.3171/2017.11.JNS172373. Print 2019 Apr 1.

Abstract

The authors present the case of a man with a papillary craniopharyngioma, first diagnosed at 47 years of age, who experienced multiple recurrences. Review of the pathologic specimen from his first resection demonstrated the BRAF V600E mutation. With his most recent recurrence following previous surgery and radiotherapy, at 52 years of age, the decision was made to initiate treatment with the BRAF V600E inhibitor dabrafenib. Imaging following initiation of dabrafenib demonstrated reduction in tumor size. He remained on dabrafenib therapy for approximately 1 year and continued to demonstrate a good clinical result. At that time the decision was made to discontinue dabrafenib therapy and follow up with serial imaging. After more than 1 year of follow-up since stopping dabrafenib, the patient has continued to do well with no radiographic evidence of tumor progression and continues to be monitored with frequent interval imaging.

摘要

作者报告了一例患有乳头状颅咽管瘤的男性病例,该患者47岁首次确诊,经历了多次复发。对其首次切除的病理标本进行复查发现存在BRAF V600E突变。在他52岁时,此前接受过手术和放疗后出现了最近一次复发,于是决定开始使用BRAF V600E抑制剂达拉非尼进行治疗。开始使用达拉非尼治疗后的影像学检查显示肿瘤大小缩小。他接受达拉非尼治疗约1年,临床效果持续良好。当时决定停止达拉非尼治疗,并通过系列影像学检查进行随访。自停止使用达拉非尼以来经过1年多的随访,患者情况一直良好,没有肿瘤进展的影像学证据,仍通过定期影像学检查进行监测。

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