Scalp Plexiform Neurofibrosarcoma With Intrathoracic Fibrosarcoma: A Case Report

Abstract

Neurofibromatosis type 1 (NF1) is the most common form of neurofibromatosis. It is associated with neurofibromas, gliomas, neurofibrosarcomas, and neuroendocrine and hematopoietic tumors. We present a case of scalp plexiform neurofibromatosis associated with intrathoracic fibrosarcoma. An 18-year-old female presented with a 15-year history of plexiform scalp mass. She had multiple café-au-lait patches on her trunk and extremities and a first-degree relative with a plexiform right shoulder mass. She was managed by a multidisciplinary team of plastic and reconstructive surgeons, neurosurgeons, cardiothoracic surgeons, otorhinolaryngologists, ophthalmologists, pulmonologists, and pathologists. The histology of the excised scalp mass was that of a malignant peripheral nerve sheath tumor (neurofibrosarcoma). She subsequently developed upper chest and back pain with associated breathlessness and was found to have an intra-thoracic tumor. She had two sessions of exploratory right thoracotomy with subtotal excision of an aggressive, highly hemorrhagic, infiltrative mucinous tumor. The histology was a fibrosarcoma. The patient died a few hours following the second thoracotomy. NF1 is associated with several tumors, among which are neurofibrosarcomas. Intra-thoracic fibrosarcoma requires aggressive surgical resection; recurrence may be delayed with radiotherapy and chemotherapy. The prognosis is however poor, and survival beyond one year is unusual. Once one tumor is found, other body systems should be evaluated for the possibility of other tumors.

Keywords: intra-thoracic metastases; malignant peripheral nerve sheath tumor (mpnst); neurofibromatosis type 1 (nf1); neurofibrosarcoma; scalp plexiform neurofibroma.

Figure 1. (A) Huge scalp mass with ulcerations, septic necrotic slough, purulent exudate, and inflamed surrounding scalp. (B) Near-total tumor excision with full-thickness skin graft cover achieved.

Figure 2. (A) H&E stain section at ×5 magnification shows a malignant mesenchymal neoplasm composed of spindle cells having large hyperchromatic nuclei, scant cytoplasm disposed in sheets separated by thin fibrocollagenous stroma, with foci of geographic necrosis. (B) H&E section of the same lesion at ×10 magnification. (C) Immunostaining for S-100 showing focal positivity, ×10 magnification. (D) Another section with immunostaining for S-100 showing focal positivity at ×10 magnification.

H&E: hematoxylin and eosin.

Figure 3. (A) Post-operative superficial wound dehiscence which recovered with serial dressing. (B) Good cosmetic outcome following complete healing. The patient had at this point developed chest pain and breathlessness. Note lean-forward sitting position.