Mustansir F, Mushtaq N, Darbar A
Department of Surgery, The Aga Khan University, Karachi, Sindh, Pakistan.
Department of Pediatrics, The Aga Khan University, Karachi, Sindh, Pakistan.
Childs Nerv Syst. 2020 Jan;36(1):203-207. doi: 10.1007/s00381-019-04346-2. Epub 2019 Aug 15.
Pilocytic astrocytomas (PAs) are the most common pediatric central nervous system tumors. They constitute around 30% of all primary central nervous tumors in the pediatric age group. Their clinical behavior may vary but most of them are indolent and do not undergo malignant transformations compared with their adult counterparts. PAs are primarily treated with surgery and in cases of progression; chemotherapy may be needed. They usually carry a good prognosis, with a 10-year survival rate of 90%. BRAFV600E mutations have been identified in approximately 9-15% of patients with PA. These relatively high mutation frequencies in PA open avenues for treatment using targeted therapies such as BRAFV600E inhibitors (e.g., dabrafenib). There have been a few published case reports and case series showing clinical benefits with BRAF inhibitors in BRAF-positive tumors. We report a case of successful treatment of BRAFV600E immunopositive optic pathway PA in a child with dabrafenib.
毛细胞型星形细胞瘤(PAs)是最常见的儿童中枢神经系统肿瘤。它们约占儿童年龄组所有原发性中枢神经系统肿瘤的30%。其临床行为可能有所不同,但与成人型相比,大多数生长缓慢,不会发生恶性转化。PAs主要通过手术治疗,病情进展时可能需要化疗。它们通常预后良好,10年生存率为90%。在约9%-15%的PA患者中已发现BRAFV600E突变。PA中这些相对较高的突变频率为使用BRAFV600E抑制剂(如达拉非尼)等靶向治疗开辟了道路。已有一些发表的病例报告和病例系列显示BRAF抑制剂对BRAF阳性肿瘤有临床益处。我们报告了1例使用达拉非尼成功治疗BRAFV600E免疫阳性视路PA患儿的病例。