Hybrid peripheral nerve sheath tumor

Case report

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  • 1 Departments of Neurosurgery,
  • | 2 Pathology and Laboratory Medicine, Division of Neuropathology,
  • | 3 Medicine, Translational Medicine and Human Genetics, and
  • | 4 Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania; and
  • | 5 Department of Radiology, Pennsylvania Hospital, Philadelphia, Pennsylvania
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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.

Abbreviations used in this paper:

EMA = epithelial membrane antigen; NF1 = neurofibromatosis Type 1; NF2 = neurofibromatosis Type 2; PNST = peripheral nerve sheath tumor.

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