文摘
摘要目的:描述的长期增长行为成人神经鞘瘤和神经纤维瘤病2型(NF2)和schwannomatosis (SWN)。
背景:NF2和SWN肿瘤遗传易感性相关综合症引起的不同的生殖系致病变种22号染色体上,主要由颅,外围和/或脊髓神经神经鞘瘤。神经鞘瘤的长期增长行为是未知的,但其知识将有助于指导病人监测和治疗选择。全身MRI (WBMRI)可以检测全身神经鞘瘤的负担。
设计/方法:12 NF2和10 SWN病人之间2007 - 2010进行了重复WBMRI WBMRI在2018 - 2019之间。神经鞘瘤被分割在短τ反转恢复序列(搅拌)。肿瘤体积计算使用肿瘤三维量化软件(3 dqi)。肿瘤的生长和收缩被定义为一个体积变化在整个研究期间≥20%。
结果:扫描之间的平均时间为10年。共有103个神经鞘瘤(46 NF2-associated 57 SWN-associated)进行了分析。NF2和SWN, 50%的肿瘤生长。中位数在SWN NF2增长88.3%和100.4%。所有增长NF2-associated神经鞘瘤长在暴露于系统性治疗的设置而只有一个增长SWN-associated肿瘤治疗系统。不包括切除肿瘤,神经鞘瘤的19.4%萎缩。中位数收缩在SWN NF2的48.5%和37.4%。所有NF2-associated萎缩肿瘤治疗系统性治疗而没有SWN-associated肿瘤萎缩。19个新肿瘤(7 NF2-associated 12 SWN-associated) 8例。
结论:一半的NF2——SWN-associated神经鞘瘤显著增长超过十年。NF2病人,增长尽管全身治疗而发生,SWN患者,神经鞘瘤可能会缩小自发没有治疗。这些发现表明一个更激进的NF2患者的肿瘤表型。持续的病人登记和核磁共振的发现与功能结果和激素的相关性目前正在接触史。
披露:立即Ly获得了博士的家庭成员的个人作为一个雇员补偿Enanta药品。Ly获得股票或博士Enanta制药的所有者权益。博士的直系亲属成员Ly获得股票或Enanta制药的所有者权益。立即家人Ly博士已收到知识产权利益从发现或技术有关卫生保健。拉奎尔·d·Thalheimer已收到Jhpeigo的个人作为一个雇员补偿。Wenli Cai已收到股票或智商医学成像LLC的所有权。米利暗Bredella没有披露。Alona Muzikansky没有披露。凡妮莎默克已经收到个人薪酬在5000 - 9999美元的范围与神经纤维瘤网络作为科普作家。珍妮弗Da没有披露。戈登·哈里斯已经收到个人薪酬在10000 - 49999美元的范围为在科学咨询服务或数据安全监测委员会Fovia, Inc .)戈登·哈里斯已经收到了股票或Novometrics的所有者权益,LLC。戈登·哈里斯已经收到了股票或智商医学成像的所有者权益,LLC。普罗金博士已经收到个人薪酬在500 - 4999美元的范围为阿斯利康作为顾问。 Dr. Plotkin has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for NFlection Therapeutics. Dr. Plotkin has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for SonALAsense. Dr. Plotkin has received research support from Children's Tumor Foundation. Dr. Plotkin has received research support from Department of Defense. Dr. Plotkin has received research support from National Institutes of Health. Dr. Jordan has received personal compensation for serving as an employee of Massachusetts General Physician Organization. Dr. Jordan has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Navio Theragnostics. Dr. Jordan has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Recursion Pharmaceuticals, Inc. Dr. Jordan has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Health2047, Inc. Dr. Jordan has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for NF Network. Dr. Jordan has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Guidepoint. Dr. Jordan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for CereXis, Inc.. Dr. Jordan has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Medical Mutual Insurance Company. Dr. Jordan has received stock or an ownership interest from Navio Theragnostics. The institution of Dr. Jordan has received research support from The Burke Foundation. Dr. Jordan has received intellectual property interests from a publication relating to health care. Dr. Jordan has a non-compensated relationship as a board member with United Council for Neurologic Subspecialties that is relevant to AAN interests or activities. Dr. Jordan has a non-compensated relationship as a board member with Neurofibromatosis Northeast that is relevant to AAN interests or activities.
