Malignant Peripheral Nerve Sheath Tumors

Bishop, Andrew J.; Zagars, Gunar K.; Torres, Keila E.; Bird, Justin E.; Feig, Barry W.; Guadagnolo, B. Ashleigh

doi:10.1097/coc.0000000000000303

Cited by 41 publications

(19 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Malignant tumors may arise from these or arise de novo and 37%‐60% of malignant peripheral nerve sheath tumors occur in patients with neurofibromatosis type 1. 42 , 43 , 44 , 45 Perineuriomas often present insidiously in young people with primarily motor and mild sensory deficits. Perineuriomas most commonly present as a mononeuropathy but can also present as a plexopathy.…”

Section: Methodsmentioning

confidence: 99%

Nerve biopsy: Current indications and decision tools

et al. 2021

View full text Add to dashboard Cite

After initial investigation of patients presenting with symptoms suggestive of neuropathy, a clinical decision is made for a minority of patients to undergo further assessment with nerve biopsy. Many nerve biopsies do not demonstrate a definitive pathological diagnosis and there is considerable cost and morbidity associated with the procedure. This highlights the need for appropriate selection of patients, nerves and neuropathology techniques. Additionally, concomitant muscle and skin biopsies may improve the diagnostic yield in some cases. Several advances have been made in diagnostics in recent years, particularly in genomics. The indications for nerve biopsy have consequently changed over time. This review explores the current indications for nerve biopsies and some of the issues surrounding its use. Also included are comments on alternative diagnostic modalities that may help to supplant or reduce the use of nerve biopsy as a diagnostic test. These primarily include extraneural biopsy and neuroimaging techniques such as magnetic resonance neurography and nerve ultrasound. Finally, we propose an algorithm to assist in deciding when to perform nerve biopsies.

show abstract

Section: Methodsmentioning

confidence: 99%

Nerve biopsy: Current indications and decision tools

et al. 2021

View full text Add to dashboard Cite

show abstract

“…In our study, 62% (8/13) of patients developed local recurrence and 46% developed distant metastasis. The management of MPNST is mainly surgical resection for small size and early stage tumors to achieve local control with negative margins, while palliative RT is recommended in the setting of metastatic disease, large size and late stage tumors [17,41]. The role of adjuvant chemotherapy in the management of MPNST is limited, given its rarity and relative lack of activity in the metastatic setting.…”

Section: Discussionmentioning

confidence: 99%

A Clinicopathologic Study of Head and Neck Malignant Peripheral Nerve Sheath Tumors

Owosho

Estilo

Huryn

et al. 2017

Head and Neck Pathol

View full text Add to dashboard Cite

Head and neck high grade malignant peripheral nerve sheath tumors (HN-MPNSTs) are rare highly aggressive soft tissue sarcomas that show overlapping morphologic and immunophenotypic features with melanoma and other high grade sarcomas, resulting in diagnostic challenges, particularly in sporadic settings. Recent discoveries have implicated loss of function mutations in the polycomb repressive complex 2 (PRC2) components, including EED or SUZ12 genes, as one of the leading pathogenetic mechanisms in high grade MPNST. MPNSTs with PRC2 loss are associated with complete loss of trimethylation at lysine 27 of histone H3 (H3K27me3), which emerged as a reliable immunohistochemical marker in the diagnosis of sporadic and radiation induced MPNST. As the diagnosis of MPNST in the HN is particularly challenging to distinguish from melanoma and other sarcoma types, we carried out a clinicopathologic analysis on HN-MPNST patients managed at our institution over a 20-year period (1997-2016), using the latest diagnostic criteria including H3K27me3 staining and other molecular investigations. The overall survival of HN-MPNST was compared with other HN soft tissue sarcomas. The diagnosis of HN-MPNST was confirmed in 13 patients (seven males and six females), with a mean age of 31 years; with 3 (23%) patients being of pediatric age. The most common site was the neck soft tissue (77%). Two-thirds of patients (n = 9) had stigmata of NF1, three had prior radiotherapy and only one developed a de novo MPNST. All except one tumor (86%) tested showed loss of H3K27me3 expression, including all non-NF1 patients. The 2 and 5-year DSS rates were 50 and 30%. The 2-year DFS rate was 21%. Adverse predictors on DSS included adult age (p = 0.011), prior-history of RT (p = 0.003) and recurrence (p = 0.003). Compared to other molecularly confirmed subsets of HN sarcomas (Ewing and Ewing-like sarcoma, rhabdomyosarcoma and synovial sarcoma), HN-MPNST had the worst overall survival (p < 0.0001). We conclude that HN-MPNSTs are highly aggressive sarcomas associated with an unfavorable outcome and the utility of H3K27me3 IHC stains in the evaluation of MPNST is a reliable ancillary diagnostic adjunct.

show abstract

“…In a French study, patients with R0 resection had almost twice the median disease-free survival as patients after resection of R1 or R2 (47.8 vs. 24.4 vs. 24.4 months, respectively) and presented significantly greater percentages of overall survivals after eight years (57.1% vs. 48.4% vs. 25.5%, respectively) [70]. Positive operational margins are also associated with an almost six-fold greater risk of local recurrence [73] and distant metastases [74].…”

Section: Surgerymentioning

confidence: 91%

Malignant peripheral nerve sheath tumour (MPNST)

et al. 2019

View full text Add to dashboard Cite

MPNST is a malignant neoplasm of peripheral nerves, usually arising in connection with nerve trunks of the limbs and torso. It can develop de novo or on the basis of an already existing neurofibroma. Such tumours constitute about 5% of soft tissue sarcomas. In 90%, they occur in patients in the 2-5 decade of life. The main risk factor for this cancer is type 1 neurofibromatosis (von Recklinghausen disease). The radical surgical treatment-tumour excision, within the limits of healthy tissues (wide local excision), combined with adjuvant radiotherapy, is of primary importance in the treatment of MPNST. In cases of metastatic disease, palliative chemotherapy is used, using doxorubicin or doxorubicin with ifosfamide. Clinical improvement after chemotherapy is observed in approximately 25-30% of patients. Considering the development of molecular biology research of MPNST, one can hope for development of inhibitors that show greater effectiveness than typical chemotherapy in these patients in the near future. Currently, clinical trials with pembrolizumab, nivolumab in combination with ipilimumab, pexidartinib (KIT inhibitor, CSF1R and FLT3) in combination with sirolimus, sapanisertib (TORC 1/2 inhibitor) or LOXO-195 (inhibitor of neurotrophic tyrosine kinase inhibitors NTRK type 1, 2 and 3) are performed in MNSNT patients.

show abstract

Malignant Peripheral Nerve Sheath Tumors

Cited by 41 publications

References 16 publications

Nerve biopsy: Current indications and decision tools

Nerve biopsy: Current indications and decision tools

A Clinicopathologic Study of Head and Neck Malignant Peripheral Nerve Sheath Tumors

Malignant peripheral nerve sheath tumour (MPNST)

Contact Info

Product

Resources

About