scholarly journals Extradural malignant peripheral nerve sheath tumor of the thoracic spine: A rare case report

2021 ◽  
Vol 12 ◽  
pp. 560
Author(s):  
Ayu Yoniko Christi ◽  
Wisnu Baskoro ◽  
Bidari Kameswari ◽  
Irfaanstio Akbar Hakim ◽  
Vega Sola Gracia Pangaribuan ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Thoracic Spine ◽  
Soft Tissue Sarcomas ◽  
Cord Compression ◽  
Nerve Sheath Tumor ◽  
Total Excision ◽  
Peripheral Nerve Sheath Tumors ◽  
Immunohistochemistry Staining ◽  
Nerve Sheath ◽  
Progressive Paraparesis

Background: Malignant peripheral nerve sheath tumors (MPNSTs) typically found in the trunk, limbs, head, and neck represent 3–10% of all soft-tissue sarcomas. Although they typically originating from peripheral nerve Schwann cells, 2–3% arise from the spinal nerves and may be found within the spinal canal. Here, we present a 43-year-old male with an extradural thoracic MPNST contributing to marked cord compression and a progressive paraparesis. Case Description: A 43-year-old male presented with a progressive paraparesis of 16 months’ duration. The MRI showed a posterior T2-T4 extradural tumor in the thoracic spine resulting in significant cord compression. Following a T2-T4 laminectomy and gross total excision of the epidural mass, the patient regained modest neurological function. Immunohistochemistry staining supported the diagnosis of thoracic spinal MPNST. Conclusion: Rarely, spinal MPNST can be considered amongst the differential diagnoses of an extradural spinal tumor. In this case, gross total excision of a posterior T2-T4 epidural MPNST resulted in improvement in the patient’s original paraparesis. Notably, immunohistochemistry staining helped confirm the diagnosis of a MPNST.

scholarly journals The Role of Polycomb Repressive Complex in Malignant Peripheral Nerve Sheath Tumor

Genes ◽  
2020 ◽  
Vol 11 (3) ◽  
pp. 287 ◽  
Author(s):  
Xiyuan Zhang ◽  
Béga Murray ◽  
George Mo ◽  
Jack F. Shern
Keyword(s):  
Peripheral Nerve ◽  
Transcriptional Repression ◽  
Molecular Mechanisms ◽  
Significant Proportion ◽  
Soft Tissue Sarcomas ◽  
Nerve Sheath Tumor ◽  
Polycomb Repressive Complex ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath ◽  
Recurrent Mutations

Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas that can arise most frequently in patients with neurofibromatosis type 1 (NF1). Despite an increasing understanding of the molecular mechanisms that underlie these tumors, there remains limited therapeutic options for this aggressive disease. One potentially critical finding is that a significant proportion of MPNSTs exhibit recurrent mutations in the genes EED or SUZ12, which are key components of the polycomb repressive complex 2 (PRC2). Tumors harboring these genetic lesions lose the marker of transcriptional repression, trimethylation of lysine residue 27 on histone H3 (H3K27me3) and have dysregulated oncogenic signaling. Given the recurrence of PRC2 alterations, intensive research efforts are now underway with a focus on detailing the epigenetic and transcriptomic consequences of PRC2 loss as well as development of novel therapeutic strategies for targeting these lesions. In this review article, we will summarize the recent findings of PRC2 in MPNST tumorigenesis, including highlighting the functions of PRC2 in normal Schwann cell development and nerve injury repair, as well as provide commentary on the potential therapeutic vulnerabilities of a PRC2 deficient tumor cell.

scholarly journals Systemic Treatment for Advanced and Metastatic Malignant Peripheral Nerve Sheath Tumors—A Sarcoma Reference Center Experience

2020 ◽  
Vol 9 (10) ◽  
pp. 3157
Author(s):  
Paweł Sobczuk ◽  
Paweł Teterycz ◽  
Anna M. Czarnecka ◽  
Tomasz Świtaj ◽  
Hanna Koseła-Paterczyk ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Systemic Treatment ◽  
Treatment Options ◽  
Soft Tissue Sarcomas ◽  
Nerve Sheath Tumor ◽  
First Line ◽  
Rare Type ◽  
Reference Center ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath

Malignant peripheral nerve sheath tumor (MPNST) is a rare type of soft tissue sarcomas. The localized disease is usually treated with surgery along with perioperative chemo- or radiotherapy. However, up to 70% of patients can develop distant metastases. The study aimed to evaluate the modes and outcomes of systemic treatment of patients with diagnosed MPNST treated in a reference center. In total, 115 patients (56 female and 59 male) diagnosed with MPNST and treated due to unresectable or metastatic disease during 2000–2019 were included in the retrospective analysis. Schemes of systemic therapy and the outcomes—progression-free survival (PFS) and overall survival (OS)—were evaluated. The median PFS in the first line was 3.9 months (95% CI 2.5–5.4). Doxorubicin-based regimens were the most commonly used in the first line (50.4% of patients). There were no significant differences in PFS between chemotherapy regimens most commonly used in the first line (p = 0.111). The median OS was 15.0 months (95% CI 11.0–19.0) and the one-year OS rate was 63%. MPNST are resistant to the majority of systemic therapies, resulting in poor survival in advanced settings. Chemotherapy with doxorubicin and ifosfamide is associated with the best response and longest PFS. Future studies and the development of novel treatment options are necessary for the improvement of treatment outcomes.

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.

Malignant Peripheral Nerve Sheath Tumors

2018 ◽  
Author(s):  
Marie-Noëlle Hébert-Blouin
Keyword(s):  
Decision Making ◽  
Soft Tissue ◽  
Peripheral Nerve ◽  
Soft Tissue Sarcomas ◽  
Nerve Sheath Tumor ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Adjuvant Therapies ◽  
Nerve Sheath ◽  
Schwann Cell Differentiation

Malignant peripheral nerve sheath tumors (PNSTs) are soft tissue sarcomas arising from a peripheral nerve or a pre-existing benign nerve sheath tumor or are sarcomas with features of Schwann-cell differentiation. Differentiating between benign and malignant PNSTs can be challenging. The chapter begins with a case example and then discusses assessment, investigations (including imaging), and diagnosis of malignant PNSTs, as well as the steps involved in decision-making about management of a malignant PNST. The surgical principles and goals for resection of a malignant PNST, the adjuvant therapies used in treatment, and the complications and outcomes of treatment are presented.

scholarly journals Metastatic Malignant Peripheral Nerve Sheath Tumor to the Brain Demonstrating Clonal Evolution by Cytogenetic Analysis

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S71-S72
Author(s):  
J T Suddock ◽  
C J Broehm ◽  
K S SantaCruz
Keyword(s):  
Peripheral Nerve ◽  
Cytogenetic Analysis ◽  
Clonal Evolution ◽  
Soft Tissue Sarcomas ◽  
Adjuvant Radiation ◽  
Nerve Sheath Tumor ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath ◽  
The Brain

Abstract Casestudy: Malignant Peripheral Nerve Sheath Tumors (MPNSTs) are aggressive, uncommon soft tissue sarcomas that arise from peripheral nerves or pre-existing benign nerve sheath tumors. Local recurrence and metastases are known to occur, though metastasis to the brain is very rare. Limited treatment options impart the need to better characterize these tumors. We present a case of a 26-year-old female with a history of a 5.5 cm MPNST of the left chest, who presented with brain metastasis two years later. The tumors were found to have similar histologic and cytogenetic findings with clonal evolution evident in the metastasis. The original tumor exhibited a proliferation of spindled cells arranged in sweeping fascicles accompanied by numerous mitotic figures and areas of geographic necrosis. The malignant cells were patchy positive for S100 and CD34 and negative for SOX10 and GFAP. Cytogenetic analysis revealed three related abnormal clones, all of which demonstrated add(2)(p25) and add(22)(q12). Monosomy 6 was identified in one clone, and near triploidy and triploidy was identified in the other two clones. Additionally, numerous whole chromosome gains and losses were present. The patient underwent surgical resection and was treated with adjuvant radiation. Two years later, a PET scan revealed a hypermetabolic left temporal lobe mass. MRI revealed a 4.9 x 4.5 cm destructive lesion invading through the temporal bone and involving brain parenchyma. The mass was resected and submitted for pathologic evaluation revealing similar histologic findings to the original, though S100 and SOX-10 were negative. Cytogenetic analysis revealed two related abnormal clones which shared add(2)(p25) and add(22)(q12) as well as an additional copy of add(22)(q12). One clone showed near triploidy with loss of several whole chromosomes. These findings are remarkable for recurrent metastatic disease to the brain and uniquely show clonal evolution of the metastatic tumor.

scholarly journals Retroperitoneal Malignant Peripheral Nerve Sheath Tumor Replacing an Absent Kidney in a Child

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Samin Alavi ◽  
M. T. Arzanian ◽  
Yalda Nilipour
Keyword(s):  
Peripheral Nerve ◽  
Wilms Tumor ◽  
Abdominal Mass ◽  
Soft Tissue Sarcomas ◽  
Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath ◽  
First Case ◽  
Genitourinary Tract Anomalies

Malignant peripheral nerve sheath tumors (MPNSTs) are nonrhabdomyosarcoma soft tissue sarcomas with rare occurrence in children specially in the retroperitoneum. We describe a young child who presented with an abdominal mass. Both ultrasound and computed tomography revealed a large right-sided abdominal mass in the anatomic place of right kidney, while no kidney or ureter was observed at that side. He underwent surgical resection of the tumor with a primary impression of Wilms tumor. To the authors’ knowledge, this is the first case of retroperitoneal malignant peripheral nerve sheath tumor and absent kidney. This case suggests the very rare probability of association of MPNSTs in children with genitourinary tract anomalies such as renal agenesis.

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.

FORAMINAL NERVE SHEATH TUMORS

Neurosurgery ◽  
2009 ◽  
Vol 64 (suppl_2) ◽  
pp. A33-A43 ◽  
Author(s):  
Judith A. Murovic ◽  
Iris C. Gibbs ◽  
Steven D. Chang ◽  
Bret C. Mobley ◽  
Jon Park ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Medical Center ◽  
Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumor ◽  
Central Necrosis ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Neurological Findings ◽  
Nerve Sheath ◽  
Asymptomatic Case

Abstract OBJECTIVE To conduct a retrospective review of outcomes in 15 patients with 18 foraminal tumors, including 17 benign peripheral nerve sheath tumors and 1 malignant peripheral nerve sheath tumor, who underwent CyberKnife (Accuray, Inc., Sunnyvale, CA) radiosurgery at Stanford University Medical Center from 1999 to 2006. METHODS Symptoms and findings, neurofibromatosis (NF) association, previous radiation, imaging, dosimetry, tumor volume, central necrosis, and the relation of these factors to outcomes were evaluated. RESULTS Before treatment, 1 asymptomatic patient had radiculopathic findings, 3 patients experienced local pain with intact neurological examinations, and 7 patients had radiculopathic complaints with intact (1 patient), radiculopathic (4 patients), or radiculomyelopathic examinations (2 patients). Five patients had myelopathic complaints and findings. Three patients had NF1-associated neurofibromas, 1 patient with NF2 had a schwannoma, and 1 patient had a schwannomatosis-related lesion. Two likely radiation-induced lesions, a neurofibroma and a malignant peripheral nerve sheath tumor, were observed. Prescribed doses ranging from 16 to 24 Gy, delivered in 1 to 3 fractions of 6 to 20 Gy, resulted in maximum tumor doses ranging from 20.9 to 30 Gy. Target volumes ranged from 1.36 to 16.9 mL. After radiosurgery, the asymptomatic case remained asymptomatic, and neurological findings improved. Thirteen of 15 symptomatic patients with (12 patients) or without (3 patients) neurological findings improved (3 cases after resection) or remained stable, and 2 patients worsened. Symptoms and examinations remained stable or improved in 8 (80%) of 10 patients with schwannomas and 3 (60%) of 5 patients with neurofibromas. Tumor volumes decreased in 12 (67%) of 18 tumors and increased in 3 tumors. Tumor volumes decreased in 8 of 10 schwannomas and 3 of 7 neurofibromas. Central necrosis developed in 8 (44%) of 18 tumors. CONCLUSION CyberKnife radiosurgery resulted in pain relief and functional preservation in selected foraminal peripheral nerve sheath tumors and a malignant peripheral nerve sheath tumor. Symptomatic and neurological improvements were more noticeable with schwannomas. Myelopathic symptoms may necessitate surgical debulking before radiosurgery.

scholarly journals Neoadjuvant Ifosfamide and Epirubicin in the Treatment of Malignant Peripheral Nerve Sheath Tumors

Sarcoma ◽  
2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Angela C. Hirbe ◽  
Pippa F. Cosper ◽  
Sonika Dahiya ◽  
Brian A. Van Tine
Keyword(s):  
Neoadjuvant Chemotherapy ◽  
Peripheral Nerve ◽  
Clinical Benefit ◽  
Metabolic Response ◽  
Neoadjuvant Treatment ◽  
Soft Tissue Sarcomas ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath ◽  
Response To Chemotherapy

Background and Objectives. Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas with poor overall survival. Response to chemotherapy has been debated for these tumors. Methods. We performed a retrospective analysis of the patients at our institution with a biopsy-proven diagnosis of MPNST that underwent neoadjuvant chemotherapy prior to surgery. Results. We retrospectively identified five patients who received neoadjuvant chemotherapy with epirubicin and ifosfamide that demonstrated a 30% reduction in tumor growth and a 60% response rate by RECIST criteria. Additionally, a metabolic response was observed in all three patients who received serial PET scans during neoadjuvant treatment. The clinical benefit rate, which includes stable disease, was 100%. Conclusions. Our data suggest that MPNSTs do respond to epirubicin and ifosfamide based chemotherapy and prospective studies are warranted to further define the clinical benefit.

Malignant Peripheral Nerve Sheath Tumor With Rhabdomyosarcomatous Differentiation (Malignant Triton Tumor)

2006 ◽  
Vol 130 (12) ◽  
pp. 1878-1881 ◽  
Author(s):  
Christopher J. Stasik ◽  
Ossama Tawfik
Keyword(s):  
Peripheral Nerve ◽  
Correct Diagnosis ◽  
Strong Association ◽  
Clinical History ◽  
Nerve Sheath Tumor ◽  
Malignant Triton Tumor ◽  
Peripheral Nerve Sheath Tumor ◽  
Prognostic Features ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath

Abstract Malignant peripheral nerve sheath tumors arise from Schwann cells or within existing neurofibromas and have a strong association with type 1 neurofibromatosis. These tumors are histologically diverse and may contain malignant areas of divergent mesenchymal differentiation, the most common of which is skeletal muscle (rhabdomyosarcoma). Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differentiation is also known as malignant triton tumor. Malignant triton tumor has a worse prognosis than classic malignant peripheral nerve sheath tumor does, and the correct diagnosis requires attention to the clinical history and knowledge of the complexities regarding its differential diagnosis. In this review we discuss the clinical, histopathological, immunohistochemical, and prognostic features of this rare neoplasm.

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