Rubright Randy, Caterina Michael J, Belzberg Allan, Ostrow Kimberly Laskie
Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Department of Neurosurgery, The Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Sci Rep. 2025 May 6;15(1):15851. doi: 10.1038/s41598-025-99820-0.
The majority of non-NF2 schwannomatosis (non-NF2 SWN) patients experience debilitating pain. Yet, it is not known why only some schwannomas cause pain or whether mutations in SWN-related genes, (SMARCB1 or LZTR1) differentially influence pain signaling pathways. Here, we established cell lines from non-NF2 SWN tumors resected from patients with varying degrees of pain and bearing mutations in different SWN-related genes. Compared with conditioned medium (CM) collected from "nonpainful" SWN tumors, CM from "painful" SWN tumors contained elevated levels of specific inflammatory cytokines (IL-6, IL-8, VEGF), and was able to enhance sensory neuron responsiveness to noxious TRPV1 and TRPA1 agonists in vitro. In in vivo studies, injection of CM from painful non-NF2 SWN into the hind paws of healthy mice evoked both more acute pain behavior and greater enhancement of mechanical stimulus-evoked behavioral responses than did CM from nonpainful non-NF2 SWN. Furthermore, the behavioral effects of painful CM differed as a function of the SWN-related gene mutations identified in the tumors of origin. Painful SMARCB1 mutant CM, for example, sensitized mice to mechanical stimulation at low forces, compared to non-painful tumor CM and control media, but this effect waned over time. In contrast, CM from a painful tumor with no detectable germline mutation in NF2, SMARCB1 or LZTR1 caused the greatest increase in responsiveness to low mechanical forces and this effect lasted for 2 days post-injection. These experiments establish a paradigm for examining the mechanisms by which painful SWN tumors bearing different mutations produce their sensory effects and will thus facilitate better understanding and, potentially, treatment of the pain endured by non-NF2 SWN patients.
大多数非神经纤维瘤病2型(non-NF2)的神经鞘瘤病(non-NF2 SWN)患者会经历使人衰弱的疼痛。然而,尚不清楚为何只有部分神经鞘瘤会引发疼痛,也不清楚SWN相关基因(SMARCB1或LZTR1)中的突变是否会对疼痛信号通路产生不同影响。在此,我们从患有不同程度疼痛且不同SWN相关基因存在突变的患者切除的non-NF2 SWN肿瘤中建立了细胞系。与从“无痛性”SWN肿瘤收集的条件培养基(CM)相比,“疼痛性”SWN肿瘤的CM含有更高水平的特定炎性细胞因子(IL-6、IL-8、VEGF),并且在体外能够增强感觉神经元对有害的TRPV1和TRPA1激动剂的反应性。在体内研究中,将来自疼痛性non-NF2 SWN的CM注射到健康小鼠的后爪,与来自无痛性non-NF2 SWN的CM相比,引发了更剧烈的急性疼痛行为以及对机械刺激诱发的行为反应更大程度的增强。此外,疼痛性CM的行为效应因起源肿瘤中鉴定出的SWN相关基因突变而异。例如,与无痛性肿瘤CM和对照培养基相比,疼痛性SMARCB1突变体CM使小鼠对低强度机械刺激敏感,但这种效应会随时间减弱。相比之下,来自在NF2、SMARCB1或LZTR1中未检测到种系突变的疼痛性肿瘤的CM导致对低强度机械力的反应性增加最大,并且这种效应在注射后持续2天。这些实验建立了一个范例,用于研究携带不同突变的疼痛性SWN肿瘤产生其感觉效应的机制,从而将有助于更好地理解并可能治疗non-NF2 SWN患者所忍受的疼痛。