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Year : 2019  |  Volume : 67  |  Issue : 7  |  Page : 45--46

Surgical dilemmas in the management of peripheral nerve tumors in neurofibromatosis 1

Dhananjaya I Bhat1, Mariano Socolovsky2, Vikram Singh1,  
1 Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
2 Department of Neurosurgery, University of Buenos Aires School of Medicine, Buenos Aires, Argentina

Correspondence Address:
Dr. Dhananjaya I Bhat
Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore - 560 029, Karnataka

How to cite this article:
Bhat DI, Socolovsky M, Singh V. Surgical dilemmas in the management of peripheral nerve tumors in neurofibromatosis 1.Neurol India 2019;67:45-46

How to cite this URL:
Bhat DI, Socolovsky M, Singh V. Surgical dilemmas in the management of peripheral nerve tumors in neurofibromatosis 1. Neurol India [serial online] 2019 [cited 2021 Sep 17 ];67:45-46
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Full Text

Neurofibromatosis type-1 (NF-1) is a relatively common inherited disorder with an incidence of 1 in every 2500 to 3000 births.[1] It carries a high predisposition to developing both benign as well as malignant tumors, and has proven associations with optic pathway gliomas, glioblastoma, malignant peripheral nerve sheath tumour, gastrointestinal stromal tumour, breast cancer, leukaemia, pheochromocytoma, duodenal carcinoid tumour, and rhabdomyosarcoma.[2] Peripheral nerve tumors are known to occur in up to 30% of the cases.[3]

In her paper in the study in focus,[4] the author, Dr. Garozzo, provides a detailed description of the varied clinical presentations of peripheral nerve tumors in NF-1. Since a majority of these lesions are benign and asymptomatic, surgery is recommended only for patients with neurological symptoms and suspicion of malignancy. Of note is the reversed ratio of incidence between schwannomas and neurofibromas (1:9) as compared to the general population. The higher incidence of neurofibromas in NF-1 entails a lower possibility of resection without damaging the involved nerve fascicles. In addition, a large proportion (30-50%) of neurofibromas in NF-1 are of the plexiform variety, arising from multiple nerve fascicles and invading the surrounding structures.[5] The presence of multiple lesions and internal plexiform neurofibromas are a further challenge to complete resection.[6] In cases where surgical resection is technically difficult, a role for chemotherapy has been suggested.[7]

The greatest cause for concern in these cases is the development of malignant peripheral nerve sheath tumors (MPNST). Around 50-60% of patients with MPNST have associated NF-1, while 8-13% of patients with NF-1 suffer from an MPNST during their lifetime.[8],[9],[10],[11] Malignant conversion must be suspected in case of rapid increase in size, new onset pain or change in character of pain and decreased mobility. While radiological features are not pathognomonic, a high uptake on FDG-PET can indicate malignancy. Fine needle aspiration cytology or needle biopsy is not advisable in these cases in view of the significant sampling errors. As of now, surgical resection with wide margins (2 cm of tumor free margin) and resection of 5-7 cm of the involved nerve, both proximal and distal to the lesion, remains the procedure of choice.[12] Tendon transfers are preferred for functional recovery. Post-operative external beam radiotherapy has been shown to improve local control, but the same has not translated into an improvement in outcome. Similarly, chemotherapy, although a standard part of the treatment regimen, has not been shown to influence outcome, which remains dismal. The five-year survival rates range from 10-50%, with the prognosis being slightly worse in NF-1.[13]

The relative paucity of information on peripheral nerve tumors in NF-1 poses a challenge to the neurosurgeon, with most of the management being guided along the lines of those for soft tissue sarcomas. A greater understanding of the pathology might lead to more specific treatment protocols. Therefore, we congratulate Dr. Garozzo for sharing her experience and for providing a comprehensive overview of the subject.


1Huson SM, Compston DAS, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in South East Wales. 1- Prevalence, fitness, mutation rate and effect of parental transmission on severity. J Med Gen 1989;26:704-11.
2Hirbe AC, Gutmann DH. Neurofibromatosis type 1: A multidisciplinary approach to care. Lancet Neurol 2014;13:834-43.
3Woodruff JM. Pathology of tumors of the peripheral nerve sheath in type 1 neurofibromatosis. Am J Med Genet 1999;89:23-30.
4Garozzo D. Peripheral nerve tumors in neurofibromatosis 1: An overview on management and indications for surgical treatment in our experience. Neurol India 2019;67:S38-44.
5Nguyen R, Kluwe L, Fuensterer C, Kentsch M, Friedrich RE, Mautner VF. Plexiform neurofibromas in children with neurofibromatosis type 1: Frequency and associated clinical deficits. J Pediatr 2011;159(55. e2):652
6Sbidian E, Hadj-Rabia S, Riccardi VM, Valeyrie-Allanore LL, Barbarot S, Chosidow O, et al. Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: Results from a cross-selectional study. Orphanet Journal of Rare Diseases 2012;7:62.
7Robertson KA, Nalepa G, Yang FC, Bowers DC, Ho CY, Hutchins GD, et al. Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: A phase 2 trial. Lancet Oncol 2012;13:1218-24.
8King AA, Debaun MR, Riccardi VM, Gutmann DH. Malignant peripheral nerve sheath tumors in neurofibromatosis 1. Am J Med Genet 2000;93:388-92.
9Singh SK, Mankotia DS, Borkar SA, Gupta UD. Multiple mirror image cervical neurofibromas in neurofibromatosis type 1. Neurol India 2017;65:428-9.
10Saini L, Jauhari P, Chakrabarty B, Kumar A, Gulati S. Isolated striatal lesions: A rare imaging finding of neurofibromatosis type I. Neurol India 2018;66:572-3.
11Shinde SV, Shenoy AS, Savant HV, Balasubramaniam SB. Coexistent intracerebral metastatic melanoma and meningioma. Neurol India 2017;65:110-2.
12Bradford D, Kim A. Current treatment options for malignant peripheral nerve sheath tumors. Curr Treat Options Oncol 2015;16:328.
13Kolberg M, Høland M, Agesen TH, Brekke HR, Liestøl K, Hall KS, et al. Survival meta-analyses for >1800 malignant peripheral nerve sheath tumor patients with and without neurofibromatosis type 1. Neuro Oncol 2013;15:135-47.