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

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.

Epithelioid Malignant Peripheral Nerve Sheath Tumor in the Liver: Report of a Rare Unusual Case with Rhabdoid Morphology and Review of the Literature

“…EMPNST has an equal sex distribution and presents most commonly in the third or fourth decade of life with a broad age range from 6 to 80 years old. The most common site of origin is the lower extremity followed by the upper extremity, trunk, and subfascial locations such as the ileum, pleura, and retroperitoneum [2,8,9]. The majority of cases occur in the subcutaneous tissue rather than deep or visceral locations.…”

“…EMPNST lacks inactivating mutations in SUZ12 and EED, translating into retained H3K27me3 expression contrasting with H3K27me3 loss in 50% of MPNST [10,12]. Important to note from the molecular analysis and clinicopathologic characteristics is the infrequent association of EMPNST with neurofibromatosis type 1, in contrast to MPNST [2,8,9].…”

Malignant nerve sheath tumor of oculomotor nerve in a pediatric patient

“…Despite the highly aggressive treatment regimens, the prognosis of the intracranial MNST is very poor owing to high rate of local recurrence, distant metastasis, and poor response to treatment [12]. Although metastases and recurrence rates are high in conventional MNST, there is a lower risk for metastasis and recurrence in epitheloid variant of the disease [13]. In a review of intracranial MNSTs conducted by Gousias et al median overall survival rate was stated as 9 months [14].…”

Local recurrence in malignant peripheral nerve sheath tumours: multicentre cohort study

“…Malignant peripheral nerve sheath tumours (MPNSTs) are rare and aggressive malignant soft-tissue sarcomas (STS) and compromise 5–10% of all STS 1–3 . Approximately 50% of MPNSTs arise sporadically, while about 25–50% of MPNST cases are associated with neurofibromatosis type 1 (NF1) 4–10 . Patients with NF1 have an increased risk of developing an MPNST with a lifetime risk of 8–13% 4 , 11–16 .…”

“…Approximately 50% of MPNSTs arise sporadically, while about 25–50% of MPNST cases are associated with neurofibromatosis type 1 (NF1) 4–10 . Patients with NF1 have an increased risk of developing an MPNST with a lifetime risk of 8–13% 4 , 11–16 . MPNSTs can originate within a (plexiform) neurofibroma in patients with NF1 and can also be present with partial rhabdomyoblastic differentiation (Triton tumour) 17 .…”