Massive plexiform neurofibromas in childhood: natural history and management issues.
OBJECTIVE
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.


METHODS
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.


CONCLUSIONS
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.
Serletis
Demitre
D
Division of Neurosurgery, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Parkin
Patricia
P
Bouffet
Eric
E
Shroff
Manohar
M
Drake
James M
JM
Rutka
James T
JT
D000293:Adolescent; D000970:Antineoplastic Agents / Q000627:therapeutic use; D018906:Antineoplastic Agents, Alkylating / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003520:Cyclophosphamide / Q000627:therapeutic use; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D016609:Neoplasms, Second Primary / Q000175:diagnosis / Q000628:therapy; D018318:Neurofibroma, Plexiform / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D019635:Neurosurgical Procedures; D010146:Pain / Q000209:etiology; D015363:Quinolones / Q000627:therapeutic use; D012120:Respiration Disorders / Q000209:etiology / Q000401:mortality; D012189:Retrospective Studies
D000970:Antineoplastic Agents; D018906:Antineoplastic Agents, Alkylating; D015363:Quinolones; D003520:Cyclophosphamide; C402769:tipifarnib