Malignant peripheral nerve sheath tumors in patients with and without neurofibromatosis

doi:10.1016/S0748-7983(05)80073-3

European Journal of Surgical Oncology (EJSO)

Volume 21, Issue 1, February 1995, Pages 78-82

https://doi.org/10.1016/S0748-7983(05)80073-3 Get rights and content

Malignant peripheral nerve sheath tumors (MPNST) are rare. They account for 10% of all soft tissue sarcomas. The incidence of MPNST in patients with neurofibromatosis type 1 (NF-1) is 4%. A retrospective study was undertaken to evaluate the prognosis of patients with MPNST and NF-1 vs patients with MPNST alone.

Twenty-two patients with MPNST were diagnosed. The MPNST was diagnosed with NF-1 in 11 patients (50%). Treatment was defined as curative in 20 patients (90%), non-curative in one patient (5%), and one patient received no treatment.

The median disease-free survival (DFS) was 14 months (range 0–153 months). The median overall survival 24 months (range 1–153 months). There were three patients with isolated local failures (14%), four patients with local and distant failures (18%), and seven patients with isolated distant failures (32%). There was no statistical difference between patients with and without NF-1. Five patients with NF-1 developed a second MPNST (45%), none of the patients without NF-1 did (P = 0.018). A statistically worse survival was found when the duration of the first symptoms had been longer than six months.

Patients with MPNST have a poor prognosis with a high risk for local and distant failures (>50%). There is no statistical difference in the final outcome for MPNST with or without NF-1, but patients with NF-1 have a high risk for developing a second MPNST.

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Cited by (129)

Partially intraosseous schwannoma of the distal humerus with increased enhancement after biopsy: Radiologic-pathologic correlation
2022, Radiology Case Reports
Citation Excerpt :
Most peripheral nerve sheath tumors are benign [5,6]. About 50% of the cases of malignant transformation are associated with NF1 [7]. As peripheral nerve sheath tumors grow along the length of a nerve, they are typically fusiform [8].
Intraosseous schwannomas are rare benign tumors that most often occur at the mandible or sacrum. We present an unusual case of a bilobed schwannoma of the distal humerus with both intraosseous and extraosseous components. The extraosseous component was non-enhancing on initial MRI and enhanced on a subsequent MRI obtained after biopsy. We hypothesize that this change was attributable to decreased intra-tumoral pressure secondary to biopsy-related disruption of the tumor capsule.
Malignant peripheral nerve sheath tumors – Outcomes and prognostic factors based on the reference center experience
2020, Surgical Oncology
Malignant peripheral nerve sheath tumor (MPNST) accounts for about 5% of soft tissue sarcomas. It can occur as sporadic diseases or can be associated with type 1 neurofibromatosis. MPNST is usually associated with poor prognosis, mostly due to their aggressive behavior, high metastatic potential, and resistance to chemotherapy. Our study aimed to determine treatment outcomes and associated prognostic factors in a large cohort of patients with MPNSTs treated at the reference sarcoma center.
239 consecutive patients (114 women and 125 men) diagnosed with MPNST between March 1998 and March 2018 who were treated with surgery with curative intent in the reference sarcoma center were included in the retrospective analysis.
The mean age at diagnosis was 51 years (range 15–86). 28 (11.7%) patients had neurofibromatosis type 1 associated tumors (NF1 positive). Median OS was 126.5 months and 5-year survival rate was 61.9% in the group treated with curative intent. Median DFS, LRFS and DMFS were 91.6, 126.5 and 126.5 months, respectively. We identified tumor size, high tumor grade and positive surgical margins as independent negative predictors of DFS, LRFS, DMFS and OS.
High-quality surgery remains a gold standard of MPNST treatment. High grade, size and quality of surgery are significant independent prognostic factors for overall survival. There is an unmet need for improvement, especially regarding the perioperative treatment and treatment of metastatic disease. Future studies on the biology of MPNST would lead to the development of novel treatment options and improvement of treatment outcomes.
Synchronous Development of Multicentric Malignant Peripheral Nerve Sheath Tumors: Institutional Review
2019, World Neurosurgery
Malignant peripheral nerve sheath tumors (MPNSTs) are rare soft tissue sarcomas, with approximately 50% occurring in patients diagnosed with neurofibromatosis type 1 (NF-1). NF-1 occurs in approximately 1/3000 individuals, and given that the lifetime prevalence of MPNST is estimated at 8%–13%, synchronous development of separate MPNSTs is plausible. We sought to report the incidence of synchronous MPNST in a cohort of pathology-proven cases since 1994.
Records since 1994 were queried and identified 192 patients with pathology-proven MPNST. Medical records of these patients were reviewed to search for patients with synchronous MPNSTs.
Retrospective review of 192 patients treated for MPNST at our institution (including 71 patients with NF-1) revealed only 1 patient with synchronous MPNSTs. A 48-year-old woman with NF-1 presented with progressive right upper and lower extremity pain and radicular symptoms. Biopsies of right sciatic and median nerve lesions revealed high-grade MPNST, and she underwent radiotherapy and complete resection of both masses. Due to initial nonspecific biopsy results and patient preference, treatment of the median nerve lesion was delayed by 8 months. She did not have recurrence of her disease at the 18-month follow-up.
Synchronous development of MPNST is unusual, with an incidence of 1.4% in our cohort of NF-1 patients with MPNSTs. Given the reported incidence of synchronous MPNST, the rate of malignant transformation in NF-1 may be overestimated. However, heightened suspicion for malignant transformation should continue in patients harboring a diagnosis of MPNST.
An intraosseous malignant peripheral nerve sheath tumor in the mandible of a patient with neurofibromatosis type 1
2018, Oral Science International
Citation Excerpt :
The characteristics of MPNST are rapid tumor growth, early invasion of the surrounding tissue, and distant metastasis [4]. Furthermore, patients with MPNST have an extremely poor prognosis, and most studies have indicated that the concurrence of NF1 is associated with an even poorer prognosis [5]. Therefore, early detection and treatment are important for improving patient outcomes.
Malignant peripheral nerve sheath tumors (MPNSTs) are sarcomas that originate in peripheral nerves or neurilemma cells. Here, we report an extremely rare case of an intraosseous MPNST in the mandible of a patient with neurofibromatosis type 1 (NF1). A 57-year-old woman with a history of NF1 was referred to our hospital because she had abnormal sensations at her left mandible. She was diagnosed with MPNST and underwent radical resection, although local recurrence and multiple metastases were detected during follow-up. Despite receiving palliative radiotherapy, the patient died at 13 months after the initial diagnosis.
The case of malignant peripheral nerve sheath tumor of the cheek
2016, Polish Annals of Medicine
Malignant peripheral nerve sheath tumor (MPNST), formerly known as neurogenic sarcoma or malignant neuroblastoma, rarely occurs in the head and neck area and can mimic benign proliferative lesions. The tumor develops from the peripheral nerve cells and can occur on the surface of the skin neurofibromas in von Recklinghausen disease or de Novo.
The aim of this paper was to present the case of the 86-year-old female patient with MPNST in the soft tissues of the right cheek.
86-year-old female patient was admitted due to the right cheek tumor growing for about a month of the size 5 × 5 cm that caused significant asymmetry of the face.
The patient was diagnosed on the basis of the history, craniofacial visualization, histopathological examination of the tumor sample and referred for surgical treatment and possible adjuvant radiotherapy. Extensive resection of the tumor was followed by a reconstruction of buccal defect with regional lobes. The postoperative course was uneventful. Adjuvant radiotherapy was not performed due to a number of aggravating systemic illness and old age of the patient. She is the subject of constant surgical–oncological follow-up medical care. No local recurrence or distant metastases were observed during follow-up.
MPNST rarely occurs in the head and neck region. This kind of sarcoma can cause problems in the process of diagnosis and therapy. Resection is the primary treatment in case of MPNST. Due to high incidence of local recurrence and distant metastases, the patients treated for MPNST require continuous outpatient follow-up after the treatment.
Malignant peripheral nerve sheath tumors of the head and neck: Demographics, clinicopathologic features, management, and treatment outcomes
2015, Oral Oncology
Citation Excerpt :
These tumors can arise either sporadically or in association with neurofibromatosis (NF). Neurofibromatosis type I (NF1), also known as von Recklinghausen’s disease, accounts for 40–50% of MPNST cases, with an average age of onset 10–15 years younger than in sporadic cases and a predilection for central anatomical locations [4–6]. While the development of MPNST in this population has been related to genetic insults involving p53 and p16, NF1 gene activity is believed to predispose patients to spontaneous development or transformation of Schwann cells from a preexisting benign neurofibroma [7–9].
To determine the epidemiology and prognostic indicators in patients with malignant peripheral nerve sheath tumors (MPNST) of the head and neck.
The surveillance, epidemiology, and end results registry was reviewed for patients with head and neck MPNST from 1973 to 2011. Study variables included age, sex, race, tumor size, stage at presentation, and treatment modality.
There were 374 cases of head and neck MPNST identified. Mean age at diagnosis was 50.7 years; 60.2% of patients were male and 82.6% were white. After diagnosis, 38.8% of patients underwent surgery and radiation therapy and 48.1% underwent surgery alone. Kaplan–Meier analysis demonstrated overall (OS) and disease-specific survival (DSS) of 51% and 67% at 5 years. Multivariate Cox regression analysis showed that age (p = 0.030), stage (p = 0.002), surgery (p = 0.037), and size (p < 0.001) were predictors of OS, while stage (p < 0.001) and size (p < 0.001) were predictors of DSS. For stage I/II cancers, surgery (p = 0.011) and size (p = 0.010) were predictors of OS, and size (p = 0.001) predicted DSS. For stage III/IV cancers, both radiotherapy (p = 0.024, p = 0.009) and size (p = 0.001, p = 0.001) predicted OS and DSS. For tumors ⩽5 cm, stage (p = 0.031) predicted DSS. For tumors >5 cm, male gender (p = 0.005), stage (p = 0.001), surgery (p = 0.003), and radiotherapy (p = 0.050) were determinants of OS, and male gender (p = 0.022), stage (p < 0.001), and radiotherapy (p = 0.002) were determinants of DSS.
Surgical resection confers survival benefit in patients with early stage MPNST, while radiotherapy improves survival in cases with metastatic disease. Surgery and radiotherapy are prognostically important in patients with tumors >5 cm.

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: The results of this study were presented at the Joint Meeting of the European Society of Surgical Oncology. British Association of Surgical Oncology, Chirurgische Arbeitsgemeinschaft Onkologie der Deutschen Gesellschaft für Chirurgie, Heidelberg, 8–11 June 1994.

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Original articleMalignant peripheral nerve sheath tumors in patients with and without neurofibromatosis

Path Res Pract

Sarcomas of the peripheral nerves and somatic soft tissues associated with neurofibromatosis (von Recklinghausen's disease)

Cancer

Primary malignant neoplasms of nerves (malignant neurilemomas) in patients without the manifestations of multiple neurofibromatosis (von Recklinghausen's disease)

Cancer

Malignant tumours of nerve sheath origin

Cancer

Malignant peripheral nerve sheath tumors

Cancer

Malignant peripheral nerve sheath tumors with divergent differentiation

Cancer

Malignant schwannoma

Original article
Malignant peripheral nerve sheath tumors in patients with and without neurofibromatosis