Ann Dermatol.  2008 Mar;20(1):32-36. 10.5021/ad.2008.20.1.32.

A Case of Malignant Peripheral Sheath Tumor Arising from Neurofibromatosis Type 1

• Kang MJ
• Kang H
• Kim HO
• Park YM

• KMID: 2156358
• DOI: http://doi.org/10.5021/ad.2008.20.1.32

Abstract

Malignant peripheral nerve sheath tumor (MPNST) is a term encompassing tumors previously diagnosed as malignant schwannoma, malignant neurilemmoma, neurogenic sarcoma, and neurofibrosarcoma The occurrence rate of MPNST in neurofibromatosis type 1 patients is known to be about 4.6%. Tumors occurring in this particular group have a worse prognosis in that they occur at an earlier age, are more centrally located, tend to be of a larger size and show more metastases and recurrences. We present a typical case of MPNST in a 36-year-old man with NF type 1, which occurred on the left buttock. A PET-CT showed findings of possible inguinal lymph node metastasis and a lymph node biopsy confirmed the diagnosis. The patient was treated with wide surgical resection and is undergoing adjuvant radiation therapy.

Keyword

Malignant peripheral nerve sheath tumor; Neurofibromatosis type 1

MeSH Terms

Adult
Biopsy
Buttocks
Humans
Lymph Nodes
Neoplasm Metastasis
Nerve Sheath Neoplasms
Neurilemmoma
Neurofibromatoses
Neurofibromatosis 1
Neurofibrosarcoma
Peripheral Nerves
Prognosis
Recurrence

Figure

• 

  Fig. 1 A 8 × 5 cm-sized, erythematous to brownish mass was observed on the left buttock. The mass was soft to firm upon palpation (A). The cut-surface of the excised specimen exhibited focal areas of hemorrhage and necrosis, on a yellowish background (B). There were multiple neurofibromas and café-au-lait spots on the patient's trunk (C).

• 

  Fig. 2 The biopsy specimen showed a large mass in the dermis, showing a dense cellularity of spindle cells in a fascicular pattern (A: H&E, × 100). Upon magnification, compact bundles of spindle cells with pleomorphic, atypical nuclei were seen arranged in a whorling pattern. An anaplastic tumor giant cell is also seen (B: H&E, × 400). The tumor cells showed focal positivity to S-100 protein (C: S-100 protein, × 100), and a few weakly cyanophilic tumor cells were found upon Masson trichrome staining (D: Masson trichrome, × 100).

• 

  Fig. 3 PET-CT of the whole body showed an increase in FDG uptake in the left inguinal region (arrow), findings suggestive of lymph node metastasis, which was confirmed with biopsy.

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