Olivia Newton-John Cancer Wellness and Research Centre, Austin Hospital, 145 Studley Road, Heidelberg, Victoria 3084, Australia.
Olivia Newton-John Cancer Wellness and Research Centre, Austin Hospital, 145 Studley Road, Heidelberg, Victoria 3084, Australia.
J Clin Neurosci. 2020 Sep;79:269-271. doi: 10.1016/j.jocn.2020.07.028. Epub 2020 Aug 26.
Pilocytic astrocytomas are World Health Organisation (WHO) grade I tumors, occurring predominantly supratentorially and in the pediatric population. Although the mainstay of treatment is local therapies such as surgery, targeted systemic therapies may be necessary for recurrent or unresectable disease. The majority of sporadic pilocytic astrocytomas are associated with the BRAF-KIAA fusion gene, which results in constitutive activation of the MAP Kinase pathway. Less frequently, the BRAF V600E point mutation has been described, occurring in less than 10% of supratentorial pilocytic astrocytomas. Tumours with this mutation may respond to targeted therapy against the BRAF/MAP Kinase pathway. We report the first described case of a spinal pilocytic astrocytoma in an adult patient with a BRAF V600E mutation responding to targeted therapy using BRAF and MEK tyrosine kinase inhibitors, and share our experiences with the management of toxicity in this patient population.
毛细胞型星形细胞瘤是世界卫生组织（WHO）一级肿瘤，主要发生在幕上和儿童人群中。虽然主要的治疗方法是局部治疗，如手术，但对于复发性或不可切除的疾病，可能需要靶向系统性治疗。大多数散发性毛细胞型星形细胞瘤与 BRAF-KIAA 融合基因相关，该基因导致 MAP 激酶途径的组成性激活。较少见的是 BRAF V600E 点突变，发生在不到 10%的幕上毛细胞型星形细胞瘤中。具有这种突变的肿瘤可能对针对 BRAF/MAP 激酶途径的靶向治疗有反应。我们报告了首例 BRAF V600E 突变的成人脊髓毛细胞型星形细胞瘤病例，该病例对 BRAF 和 MEK 酪氨酸激酶抑制剂的靶向治疗有反应，并分享了我们在该患者人群中管理毒性的经验。
