PDF(Pubmed)
Abstract：
We report partial response (PR) to novel therapy with selumetinib in a patient with neurofibromatosis type 2 (NF2). A 25-year-old male presented with bilateral vestibular schwannomas, spinal cord intramedullary ependymomas, cranial and spinal meningiomas, spinal nerve root mixed schwannoma-neurofibromas, and peripheral nerve sheath tumors. He tested negative for germline NF2, SWItch/sucrose non-fermentable-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1), and leucine zipper-like transcription regulator 1 (LZTR1) mutations. Molecular analysis of a resected cervical spine schwannoma-neurofibroma demonstrated an isolated somatic SMARCB1 mutation. Due to progression of all tumors, he was treated medically with both everolimus (10 mg/day) and selumetinib (25 mg/kg twice a day), but he rapidly transitioned to selumetinib monotherapy due to everolimus toxicity. 3 months of treatment resulted in PR in one spinal ependymoma and stable disease in other tumors. This PR was quantified by the differences in units of intensity in pre- and post-treatment magnetic resonance image. To the best of our knowledge, this is the first reported case for using selumetinib in NF2-associated tumors or ependymomas.
摘要：
我们报告了2型神经纤维瘤病（NF2）患者对司美替尼新疗法的部分反应（PR）。一名25岁的男性表现为双侧前庭神经鞘瘤，脊髓髓内室管膜瘤,头颅和脊髓脑膜瘤，脊神经根混合神经鞘瘤-神经纤维瘤，和周围神经鞘瘤。他对染色质亚家族B成员1（SMARCB1）的种系NF2，SWItch/蔗糖不可发酵相关的基质相关肌动蛋白依赖性调节因子进行了阴性测试，和亮氨酸拉链样转录调节因子1(LZTR1)突变。对切除的颈椎神经鞘瘤-神经纤维瘤的分子分析显示出分离的体细胞SMARCB1突变。由于所有肿瘤的进展，他接受了依维莫司（10mg/天）和司美替尼（25mg/kg，每天两次）的药物治疗，但由于依维莫司毒性,他迅速转用了司美替尼单药治疗.3个月的治疗导致一个脊髓室管膜瘤的PR和其他肿瘤的稳定疾病。通过治疗前和治疗后磁共振图像中强度单位的差异来量化该PR。据我们所知,这是在NF2相关肿瘤或室管膜瘤中使用司美替尼的首例报道病例.
