Serletis Demitre, Parkin Patricia, Bouffet Eric, Shroff Manohar, Drake James M, Rutka James T
Division of Neurosurgery, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
J Neurosurg. 2007 May;106(5 Suppl):363-7. doi: 10.3171/ped.2007.106.5.363.
The authors review their experience with massive plexiform neurofibromas (PNs) in patients with pediatric neurofibromatosis Type 1 (NF1) to better characterize the natural history and management of these complex lesions.
The authors performed a retrospective review of data obtained in seven patients with NF1 in whom massive PNs were diagnosed at The Hospital for Sick Children in Toronto, Ontario, Canada. These patients attended routine follow-up examinations conducted by a number of specialists, and serial neuroimaging studies were obtained to monitor disease progression. The most common presenting feature of PN was that of a painful, expanding lesion. Furthermore, two patients harbored multiple, distinct PNs affecting different body sites. With respect to management, two patients were simply observed, undergoing serial neuroimaging studies; two patients underwent biopsy sampling of their plexiform lesions; two patients underwent attempted medical treatment (farnesyl transferase inhibitor, R11577, and cyclophosphamide chemotherapy); and three patients required surgical debulking of their PNs because the massive growth of these tumors caused functional compromise. Ultimately, one patient died of respiratory complications due to progressive growth of the massive PN lesion.
In this review of their experience, the authors found certain features that underscore the presentation and natural history of PNs. The management of these complex lesions, however, remains unclear. Slow-growing PNs may be observed conservatively, but the authors' experience suggests that resection should be considered in selected cases involving significant deterioration or functional compromise. Nevertheless, patients with massive PNs will benefit from close surveillance by a team of specialists to monitor for ongoing disease progression.
作者回顾了他们在患有1型小儿神经纤维瘤病（NF1）的患者中治疗巨大丛状神经纤维瘤（PNs）的经验，以更好地描述这些复杂病变的自然病程和治疗方法。
作者对在加拿大多伦多病童医院诊断为巨大PNs的7例NF1患者的数据进行了回顾性分析。这些患者接受了多位专家进行的常规随访检查，并进行了系列神经影像学研究以监测疾病进展。PN最常见的表现特征是疼痛性、进行性增大的病变。此外，2例患者有多个不同部位的PN。在治疗方面，2例患者仅接受观察并进行系列神经影像学研究；2例患者对其丛状病变进行了活检取样；2例患者尝试了药物治疗（法尼基转移酶抑制剂R11577和环磷酰胺化疗）；3例患者因肿瘤的巨大生长导致功能受损，需要对其PN进行手术减瘤。最终，1例患者因巨大PN病变的进展导致呼吸并发症死亡。
在对自身经验的回顾中，作者发现了某些突出PN表现和自然病程的特征。然而，这些复杂病变的治疗方法仍不明确。生长缓慢的PNs可进行保守观察，但作者的经验表明，在某些出现明显恶化或功能受损的病例中应考虑手术切除。尽管如此，患有巨大PNs的患者将受益于由一组专家进行的密切监测，以监测疾病的持续进展。
