scholarly journals Cranial nerve and intramedullary spinal malignant peripheral nerve sheath tumor associated with neurofibromatosis-1

2021 ◽  
Vol 12 ◽  
pp. 630
Author(s):  
Christopher Newell ◽  
Alan Chalil ◽  
Kristopher D. Langdon ◽  
Vahagn Karapetyan ◽  
Matthew O. Hebb ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Cranial Nerve ◽  
Case Reports ◽  
Neurofibromatosis Type ◽  
Optic Glioma ◽  
Type I ◽  
Nerve Sheath Tumor ◽  
Intramedullary Spinal Cord ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath

Background: Malignant peripheral nerve sheath tumors (MPNSTs) are uncommon but aggressive neoplasms associated with radiation exposure and neurofibromatosis Type I (NF1). Their incidence is low compared to other nervous system cancers, and intramedullary spinal lesions are exceedingly rare. Only a few case reports have described intramedullary spinal cord MPNST. Case Description: We describe the clinical findings, management, and outcome of a young patient with NF1 who developed aggressive cranial nerve and spinal MPNST tumors. This 35-year-old patient had familial NF1 and a history of optic glioma treated with radiation therapy (RT). She developed a trigeminal MPNST that was resected and treated with RT. Four years later, she developed bilateral lower extremity deficits related to an intramedullary cervical spine tumor, treated surgically, and found to be a second MPNST. Conclusion: To the best of our knowledge, this is the first report of cranial nerve and intramedullary spinal MPNSTs manifesting in a single patient, and only the third report of a confined intramedullary spinal MPNST. This unusual case is discussed in the context of a contemporary literature review.

scholarly journals Toward Understanding the Mechanisms of Malignant Peripheral Nerve Sheath Tumor Development

2021 ◽  
Vol 22 (16) ◽  
pp. 8620
Author(s):  
Teddy Mohamad ◽  
Camille Plante ◽  
Jean-Philippe Brosseau
Keyword(s):  
Peripheral Nerve ◽  
Tumor Development ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Nerve Sheath Tumor ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Research Perspectives ◽  
Nerve Sheath ◽  
History Of

Malignant peripheral nerve sheath tumors (MPNSTs) originate from the neural crest lineage and are associated with the neurofibromatosis type I syndrome. MPNST is an unmet clinical need. In this review article, we summarize the knowledge and discuss research perspectives related to (1) the natural history of MPNST development; (2) the mouse models recapitulating the progression from precursor lesions to MPNST; (3) the role of the tumor microenvironment in MPNST development, and (4) the signaling pathways linked to MPNST development.

Hybrid peripheral nerve sheath tumor

2012 ◽  
Vol 117 (5) ◽  
pp. 897-901 ◽  
Author(s):  
Shih-Shan Lang ◽  
Eric L. Zager ◽  
Thomas M. Coyne ◽  
Raj Nangunoori ◽  
J. Bruce Kneeland ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Case Reports ◽  
Tumor Resection ◽  
Femoral Nerve ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
Her Family ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath ◽  
Sciatic Nerves

In recent literature, there have been case reports of an extremely rare entity characterized by hybrid peripheral nerve tumors consisting of elements of neurofibroma, schwannoma, and/or perineurioma. The authors present a unique case of a patient with multiple painful hybrid tumors with negative genetic testing for neurofibromatosis Type 1 and no clinical evidence of neurofibromatosis Type 2 or schwannomatosis. A 28-year-old woman presented with tentatively diagnosed schwannomatosis. She had painful bilateral retromastoid scalp tumors as well as multiple other painful tumors in the distribution of the saphenous, femoral, and sciatic nerves. Her family history was significant for a paternal grandfather with a solitary schwannoma. The patient underwent multiple surgical procedures for tumor resection, including tumors in the regions of the retromastoid scalp, bilateral sciatic nerves, left femoral nerve, and left axilla. These tumors were examined and evaluated histologically. Within the tumors, components of both neurofibromas and schwannomas were found, even though these 2 peripheral nerve sheath tumors have been long considered to be distinct entities. This case report suggests a distinct syndrome that has not previously been appreciated.

scholarly journals Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1

2017 ◽  
Vol 75 (6) ◽  
pp. 366-371 ◽  
Author(s):  
Roberto André Torres de Vasconcelos ◽  
Pedro Guimarães Coscarelli ◽  
Regina Papais Alvarenga ◽  
Marcus André Acioly
Keyword(s):  
Overall Survival ◽  
Peripheral Nerve ◽  
Neurofibromatosis Type 1 ◽  
Tumor Size ◽  
Retrospective Chart Review ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath

ABSTRACT Objective In this study, we review the institution’s experience in treating malignant peripheral nerve sheath tumors (MPNSTs). A secondary aim was to compare outcomes between MPNSTs with and without neurofibromatosis type 1 (NF1). Methods Ninety-two patients with MPNSTs, over a period of 20 years, were reviewed. A retrospective chart review was performed. The median age was 43.5 years (range, 3–84 years) and 55.4% were female; 41 patients (44.6%) had NF1-associated tumors. Results Mean tumor sizes were 15.8 ± 8.2 cm and 10.8 ± 6.3 cm for patients with and without NF1, respectively. Combined two- and five-year overall survival was 48.5% and 29%. Multivariate analysis confirmed the association of tumor size greater than 10 cm (hazard ratio (HR) 2.99; 95% confidence interval (CI) 1.14–7.85; p = 0.0258) and presence of NF1 (HR 3.41; 95%CI 1.88–6.19; p < 0.001) with a decreased overall survival. Conclusion Tumor size and NF1 status were the most important predictors of overall survival in our population.

scholarly journals From Genes to -Omics: The Evolving Molecular Landscape of Malignant Peripheral Nerve Sheath Tumor

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 691
Author(s):  
Kathryn M. Lemberg ◽  
Jiawan Wang ◽  
Christine A. Pratilas
Keyword(s):  
Peripheral Nerve ◽  
Soft Tissue Sarcomas ◽  
Type I ◽  
Nerve Sheath Tumor ◽  
Genetic Changes ◽  
Genetic Syndrome ◽  
Genetic Sequencing ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath ◽  
Molecular Landscape

Malignant peripheral nerve sheath tumors (MPNST) are rare, aggressive soft tissue sarcomas that occur with significantly increased incidence in people with the neuro-genetic syndrome neurofibromatosis type I (NF1). These complex karyotype sarcomas are often difficult to resect completely due to the involvement of neurovascular bundles, and are relatively chemotherapy- and radiation-insensitive. The lifetime risk of developing MPNST in the NF1 population has led to great efforts to characterize the genetic changes that drive the development of these tumors and identify mutations that may be used for diagnostic or therapeutic purposes. Advancements in genetic sequencing and genomic technologies have greatly enhanced researchers’ abilities to broadly and deeply investigate aberrations in human MPNST genomes. Here, we review genetic sequencing efforts in human MPNST samples over the past three decades. Particularly for NF1-associated MPNST, these overall sequencing efforts have converged on a set of four common genetic changes that occur in most MPNST, including mutations in neurofibromin 1 (NF1), CDKN2A, TP53, and members of the polycomb repressor complex 2 (PRC2). However, broader genomic studies have also identified recurrent but less prevalent genetic variants in human MPNST that also contribute to the molecular landscape of MPNST and may inform further research. Future studies to further define the molecular landscape of human MPNST should focus on collaborative efforts across multiple institutions in order to maximize information gathered from large numbers of well-annotated MPNST patient samples, both in the NF1 and the sporadic MPNST populations.

scholarly journals Diagnosis and management of malignant peripheral nerve sheath tumors: Current practice and future perspectives

2019 ◽  
Vol 2 (Supplement_1) ◽  
pp. i40-i49 ◽  
Author(s):  
Bethany C Prudner ◽  
Tyler Ball ◽  
Richa Rathore ◽  
Angela C Hirbe
Keyword(s):  
Peripheral Nerve ◽  
Treatment Options ◽  
Neurofibromatosis Type ◽  
Current Treatment ◽  
Nerve Sheath Tumor ◽  
Preclinical Research ◽  
Cancer Predisposition Syndrome ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath ◽  
Investigational Treatment

Abstract One of the most common malignancies affecting adults with the neurofibromatosis type 1 (NF1) cancer predisposition syndrome is the malignant peripheral nerve sheath tumor (MPNST), a highly aggressive sarcoma that typically develops from benign plexiform neurofibromas. Approximately 8–13% of individuals with NF1 will develop MPNST during young adulthood. There are few therapeutic options, and the vast majority of people with these cancers will die within 5 years of diagnosis. Despite efforts to understand the pathogenesis of these aggressive tumors, the overall prognosis remains dismal. This manuscript will review the current understanding of the cellular and molecular progression of MPNST, diagnostic workup of patients with these tumors, current treatment paradigms, and investigational treatment options. Additionally, we highlight novel areas of preclinical research, which may lead to future clinical trials. In summary, MPNST remains a diagnostic and therapeutic challenge, and future work is needed to develop novel and rational combinational therapy for these tumors.

scholarly journals Ral Overactivation in Malignant Peripheral Nerve Sheath Tumors

2009 ◽  
Vol 29 (14) ◽  
pp. 3964-3974 ◽  
Author(s):  
Vidya Bodempudi ◽  
Farnaz Yamoutpoor ◽  
Weihong Pan ◽  
Arkadiusz Z. Dudek ◽  
Tuba Esfandyari ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Cell Cycle Progression ◽  
Epithelial Mesenchymal Transition ◽  
Neurofibromatosis Type ◽  
Dominant Negative ◽  
Nerve Sheath Tumor ◽  
Mesenchymal Transition ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath

ABSTRACT Ras leads an important signaling pathway that is deregulated in neurofibromatosis type 1 and malignant peripheral nerve sheath tumor (MPNST). In this study, we show that overactivation of Ras and many of its downstream effectors occurred in only a fraction of MPNST cell lines. RalA, however, was overactivated in all MPNST cells and tumor samples compared to nontransformed Schwann cells. Silencing Ral or inhibiting it with a dominant-negative Ral (Ral S28N) caused a significant reduction in proliferation, invasiveness, and in vivo tumorigenicity of MPNST cells. Silencing Ral also reduced the expression of epithelial mesenchymal transition markers. Expression of the NF1-GTPase-related domain (NF1-GRD) diminished the levels of Ral activation, implicating a role for neurofibromin in regulating RalA activation. NF1-GRD treatment caused a significant decrease in proliferation, invasiveness, and cell cycle progression, but cell death increased. We propose Ral overactivation as a novel cell signaling abnormality in MPNST that leads to important biological outcomes with translational ramifications.

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