文摘
客观的说明一些神经炎症疾病可能反应最好的抗增殖治疗而不是免疫调节治疗。
背景基因组学的诊断医疗设备越来越多地采用耐火neuro-inflammatory疾病。宏基因组下一代测序是用来检测病原体,生殖系基因检测是用来检测先天性免疫系统。基因检测的组织可以识别体细胞突变有针对性的治疗。MEK-inhibitors是一个新兴的治疗RAS / MAPK途径的突变疾病包括一些像neuro-histiocytoses neuro-inflammatory模仿。
设计/方法NA。
结果原本健康的12岁的小女孩面对1月的复视和头痛。她的哥哥有临床诊断NF1(浅褐色斑点,皮肤纤维瘤)。考试的第三个神经麻痹。MRI显示T2 /天赋hyperintense右颞叶病变,基底神经节,和颈胸线,结节性leptomeningeal增强沿整个脊髓,和右大脑中动脉血管壁的提高。CSF:白细胞6 /毫米3淋巴细胞单核细胞的37%(62%),蛋白质133 mg / dL。她用脉冲提高甲基强的松龙和维护类固醇。在5个月,她开发的恶性颅内压升高与CSF OP > 50厘米的水,心动过缓,脑病要求每周有限合伙人。脑活检显示星形和小胶质激活没有显著炎症。没有注意到周围。没有任何证据表明肿瘤或感染。她试穿了anakinra。在6个月时,她离开了第三神经麻痹和癫痫发作。几个星期以来,她每天需要有限合伙人为颅内高血压尽管ventriculoperitoneal分流安置。额外的治疗包括英夫利昔单抗,类固醇,siltuximab。 NGS from brain biopsy identified 2 NF1 mutations (nonsense, splicing). Allele fractions: 6% and 9%. Her mental status and need for frequent LP improved dramatically with trametinib.
结论这个案例说明的重要性考虑神经组织的体细胞基因组测试即使恶性肿瘤或组织细胞增生症的神经病理学不是暗示可以通知新的分子靶向治疗选项。
脚注
披露:陈竺没有披露。亚达夫博士已经收到个人薪酬在500 - 4999美元的范围为Alexion担任顾问。亚达夫博士已经收到个人薪酬在500 - 4999美元的范围为EMD-Serono担任顾问。亚达夫博士已经收到个人薪酬在500 - 4999美元的范围作为顾问詹森制药。亚达夫博士收到退伍军人事务部的研究支持。亚达夫博士收到NIH的研究支持。亚达夫博士接到PCORI研究支持。亚达夫博士收到nms的研究支持。博士之间没有披露。曹博士没有披露。 Dr. Nath has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier. The institution of Dr. Nath has received research support from National Institutes of Health. Dr. Brown has nothing to disclose. Dr. Diamond has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Day One Biopharmaceuticals. Dr. Diamond has received research support from Applebaum Foundation. Dr. Diamond has received research support from Frame Family Fund. Dr. Diamond has received research support from Joy Family West Foundation. David Solit has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Pfizer. David Solit has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for BridgeBio. David Solit has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Vividion Therapeutics. David Solit has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Fore Therapeutics. David Solit has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Scorpion Therapeutics. David Solit has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for AACR. Randall L. Woltjer has nothing to disclose. Dr. Sayama has nothing to disclose. Dr. Winer has nothing to disclose. Dr. Garavatti has nothing to disclose. Dr. Garrett has nothing to disclose. Dr. Angappan has nothing to disclose. Dr. Nicholson has nothing to disclose.
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