An intraosseous malignant peripheral nerve sheath tumor of the lumbar spine without neurofibromatosis: Case report and review of the literature

Suzuki,Kayo; Yasuda,Taketoshi; Hori,Takeshi; Watanabe,Kenta; Kanamori,Masahiko; Kimura,Tomoatsu

doi:10.3892/ol.2014.1987

An intraosseous malignant peripheral nerve sheath tumor of the lumbar spine without neurofibromatosis: Case report and review of the literature

Authors:
- Kayo Suzuki
- Taketoshi Yasuda
- Takeshi Hori
- Kenta Watanabe
- Masahiko Kanamori
- Tomoatsu Kimura
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Affiliations: Department of Orthopaedic Surgery, Faculty of Medicine, University of Toyama, Toyama City, Toyoma 939‑0194. Japan, Department of Orthopaedic Surgery, Iiyama Red Cross Hospital, Iiyama City, Nagano 389‑2295, Japan, First Department of Human Science, Faculty of Medicine, University of Toyama, Toyama City, Toyoma 939‑0194, Japan
Published online on: March 21, 2014 https://doi.org/10.3892/ol.2014.1987
Pages: 1965-1969

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Abstract

A malignant peripheral nerve sheath tumor (MPNST) is defined as any malignant tumor that develops or differentiates from cells in the peripheral nerve sheath. This tumor is commonly associated with neurofibromatosis type 1 (NF1) and previous radiotherapy treatment. Primary intraosseous MPNSTs are extremely rare and a case of the lumbar spine in a patient without NF1 is reported in the present study, with a review of the intraosseous MPNST literature. A 45‑year‑old female presented with a 1‑month history of severe lower back pain and pain radiating to the left leg. A total en bloc spondylectomy of L4 was performed. The postoperative histopathological diagnosis was MPNST with deletion of NF1, confirmed by dual‑color fluorescence in situ hybridization (FISH) analysis. The tumor recurred 1 month following the surgery. Although adjuvant chemotherapy was administered, the patient succumbed due to intramedullary dissemination and carcinomatous meningitis 8 months following the initial consultation. NF1 deletion by FISH analysis may be particularly useful in distinguishing MPNST from other high‑grade malignancies with overlapping morphological features.

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