Hybrid peripheral nerve sheath tumor

• Published in: Journal of neurosurgery Vol. 117; no. 5; p. 897
• Main Authors: Lang, Shih-Shan, Zager, Eric L, Coyne, Thomas M, Nangunoori, Raj, Kneeland, J Bruce, Nathanson, Katherine L
• Format: Journal Article
• Language: English
• Published: United States 01.11.2012
• Subjects: Adult; Female; Genes, Neurofibromatosis 1; Genes, Neurofibromatosis 2; Genetic Testing; Humans; Immunohistochemistry; Magnetic Resonance Imaging; Nerve Sheath Neoplasms - genetics; Nerve Sheath Neoplasms - pathology; Nerve Sheath Neoplasms - surgery; Neurilemmoma - genetics; Neurilemmoma - pathology; Neurilemmoma - surgery; Neurofibroma - genetics; Neurofibroma - pathology; Neurofibroma - surgery; Neurosurgical Procedures; Scalp - innervation; Scalp - pathology; Tomography, X-Ray Computed; Treatment Outcome
• ISSN: 1933-0693
• DOI: 10.3171/2012.8.JNS111841

In recent literature, there have been case reports of an extremely rare entity characterized by hybrid peripheral nerve tumors consisting of elements of neurofibroma, schwannoma, and/or perineurioma. The authors present a unique case of a patient with multiple painful hybrid tumors with negative genetic testing for neurofibromatosis Type 1 and no clinical evidence of neurofibromatosis Type 2 or schwannomatosis. A 28-year-old woman presented with tentatively diagnosed schwannomatosis. She had painful bilateral retromastoid scalp tumors as well as multiple other painful tumors in the distribution of the saphenous, femoral, and sciatic nerves. Her family history was significant for a paternal grandfather with a solitary schwannoma. The patient underwent multiple surgical procedures for tumor resection, including tumors in the regions of the retromastoid scalp, bilateral sciatic nerves, left femoral nerve, and left axilla. These tumors were examined and evaluated histologically. Within the tumors, components of both neurofibromas and schwannomas were found, even though these 2 peripheral nerve sheath tumors have been long considered to be distinct entities. This case report suggests a distinct syndrome that has not previously been appreciated.