Recurrent epithelioid malignant peripheral nerve sheath tumor with neurofibromatosis type 1: A case report and literature review

Du,Peng; Zhu,Jia; Zhang,Zhen‑Dong; He,Chong; Ye,Mei‑Yu; Liu,Ya‑Xiong; Tian,Qiu‑Hong; Zeng,Jin‑Sheng

doi:10.3892/ol.2019.10676

Recurrent epithelioid malignant peripheral nerve sheath tumor with neurofibromatosis type 1: A case report and literature review

Authors:
- Peng Du
- Jia Zhu
- Zhen‑Dong Zhang
- Chong He
- Mei‑Yu Ye
- Ya‑Xiong Liu
- Qiu‑Hong Tian
- Jin‑Sheng Zeng
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Affiliations: Department of General Surgery, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi 330006, P.R. China, Department of Pathology, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi 330006, P.R. China, Department of Oncology, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi 330006, P.R. China
Published online on: July 26, 2019 https://doi.org/10.3892/ol.2019.10676
Pages: 3072-3080
Copyright: © Du et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Malignant peripheral nerve sheath tumors (MPNSTs) are unusual and aggressive malignant soft‑tissue tumors that comprise 5‑10% of all soft‑tissue sarcomas. Approximately 50% of MPNST cases are associated with neurofibromatosis type-1 (NF‑1). As a rare MPNST subset, the epithelioid variant of MPNST (eMPNST) is histologically characterized by the predominant presence of epithelioid tumor cells, and accounts for <5% of all MPNSTs. In addition, eMPNST is rarely associated with NF‑1 when compared with conventional MPNST. Although extensive clinicopathological studies have been conducted on eMPNST, clinicians face difficulty when attempting to make an accurate diagnosis. Subsequently, the biological consequences, including recurrence, metastasis and mortality rate in patients with eMPNST remain unclear. The current study presents the case of a 71‑year‑old woman with eMPNST and a family history of NF‑1 in whom tumors had recurred twice on the lower back. A literature search for eMPNSTs was conducted by browsing PubMed and MEDLINE for English‑language articles, as well as references from review articles, and revealed 129 published cases. Only 5 cases of eMPNST were associated with NF‑1. The studies were retrospectively reviewed and the clinicopathological data of the patients, including tumor site, treatment, follow‑up, prognosis, and immunohistochemical positivity were collected.

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