Malignant Peripheral Nerve Sheath Tumor

Neurofibromatosis Type 1 (NF1) is caused by mutations in the NF1 gene that encodes neurofibromin, a RAS GTPase-Activating Protein. Inactivating NF1 mutations cause hyperactivation of RAS-mediated signaling, resulting in development of multiple neoplasms, including Malignant Peripheral Nerve Sheath Tumors (MPNSTs). MPNSTs are an aggressive tumor and the main cause of mortality in NF1 patients. MPNSTs are difficult to resect and refractory to chemo- and radiotherapy, and no molecular therapies currently exist...

Malignant peripheral nerve sheath tumors (MPNSTs) are chemotherapy resistant sarcomas that are a leading cause of death in neurofibromatosis type 1 (NF1). Although NF1-related MPNSTs derive from neural crest cell origin, they also exhibit intratumoral heterogeneity. TP53 mutations are associated with significantly decreased survival in MPNSTs, however the mechanisms underlying TP53-mediated therapy responses are unclear in the context of NF1-deficiency. We evaluated the role of two commonly altered genes, MET and TP53, in kinome reprograming and cellular differentiation in preclinical MPNST mouse models...

Neurofibromatosis type 1 (NF1) is a common genetic disorder resulting in the development of both benign and malignant tumors of the peripheral nervous system. NF1 is caused by germline pathogenic variants or deletions of the NF1 tumor suppressor gene, which encodes the protein neurofibromin that functions as negative regulator of p21 RAS. Loss of NF1 heterozygosity in Schwann cells (SCs), the cells of origin for these nerve sheath-derived tumors, leads to the formation of plexiform neurofibromas (PNF)-benign yet complex neoplasms involving multiple nerve fascicles and comprised of a myriad of infiltrating stromal and immune cells...

BACKGROUND: Neurofibromatosis type 1 (NF1) is associated with the development of benign (BPNST) and malignant (MPNST) peripheral nerve sheath tumors. Recently described atypical neurofibromas (ANF) are considered pre-malignant precursor lesions to MPNSTs. Previous studies indicate that diffusion-weighted magnetic resonance imaging (DW-MRI) can reliably discriminate MPNSTs from BPNSTs. We therefore investigated the diagnostic accuracy of DW-MRI for the discrimination of benign, atypical, and malignant peripheral nerve sheath tumors...

We present the unique case of a 60-year-old female with neurofibromatosis type 1 (NF1) who underwent laser interstitial thermal therapy (LITT) for metastatic malignant peripheral nerve sheath tumor (MPNST) of the brain. She presented to the emergency room complaining of one week of dysarthria and facial droop. An MRI of the brain demonstrated a homogeneously enhancing left frontal mass; although rare, given her history of pulmonary MPNST, brain invasion was considered likely. No generally accepted guidelines for the treatment of MPNST with cerebral metastases exist; however, LITT was chosen due to tumor morphology and proximity to eloquent brain structures...

The research purpose is to review the surgical approach and evaluate the results in adult patients with head and neck sarcomas. The histopathology varied, including two leiomyosarcomas, six malignant fibrous histiocytomas, two malignant peripheral nerve sheath tumors, four dermatofibrosarcomas protuberans, three osteosarcomas, two angiosarcomas, one liposarcoma, one Ewing sarcoma, one synovial sarcoma, two unclassified/non-differentiated sarcomas and one solitary fibrous tumor. Surgical resection included maxillectomy, mandibulectomy, craniectomy, parotidectomy, scalp resection, face skin resection and laminectomy...

Neurofibromatosis type 1 (NF1) is caused by NF1 gene mutations. Patients with NF1 often have complications with tumors, such as neurofibroma. In order to investigate the pathogenesis of human neurofibroma, a systematic comparison of protein expression levels between Schwann cell-like sNF96.2 cells, which originated from malignant peripheral nerve sheath tumors (MPNST), and normal Schwann cells was performed using 4-D label-free proteomic analysis. In addition, the expression levels and localization of dysregulated proteins were confirmed using a Gene Expression Omnibus (GEO) transcriptomic dataset, Western blot analysis, and immunofluorescence labeling...

Objective: To investigate the diagnostic value of detecting MDM2 gene amplification by fluorescence in situ hybridization (FISH) in low-grade osteosarcoma (LGOS). Methods: Thirty cases of parosteal osteosarcoma (POS) and 14 cases of low-grade central osteosarcoma (LGCOS) from April 2009 to August 2022 at Beijing Jishuitan Hospital, Capital Medical University were analyzed for the presence of MDM2 gene amplification by FISH. Fifty-eight additional cases were used as negative controls (including 28 cases of fibrous dysplasia, 5 cases of giant cell tumor, 4 cases of conventional osteosarcoma, 2 cases each of periosteal osteosarcoma, reparative changes after fracture, pleomorphic undifferentiated sarcoma, low grade myofibroblastic sarcoma, fibrous dysplasia with malignant transformation, one case each of leiomyosarcoma, sclerosing epithelioid fibrosarcoma, malignant peripheral nerve sheath tumor, desmoplastic fibroma of bone, solitary fibrous tumor, aneurysmal bone cyst, clear cell chondrosarcoma, osteofibrous dysplasia, and 3 cases of unclassified spindle cell tumor)...

BACKGROUND: Interpretation of malignant soft tissue spinal canal tumors imaging is essential in guiding spine surgeons to establish a differential diagnosis. This task is intricate due to a great radiologic pattern overlap among entities. We present in this manuscript a step-by-step strategy that can guide spine surgeons identify a likely malignant soft tissue lesion in the spinal canal based on imaging features. In addition, we provide a review of the radiologic features of malignant soft tissue spinal canal tumors, assisting spine surgeons refining their diagnostic approach based on several essential imaging characteristics...

Schwannoma is a type of peripheral nerve sheath tumor that is often found in the head and neck. Schwannomas in the digestive system, particularly the colon and rectum, are exceptionally rare, and they are mostly non-malignant and asymptomatic although sometimes patients can present with symptoms similar to those observed in patients with other gastrointestinal tumors like abdominal pain, fullness, nausea, vomiting, and change in bowel habits. For diagnosis and treatment, surgical resection along with biopsy is the gold standard...

Malignant tumors of the peripheral nerve sheaths are uncommon, constituting a small percentage, typically ranging from 2% to 5% of soft tissue sarcomas. Etiological diagnosis is often difficult but is guided by imaging and confirmed by histopathological and immunohistochemical examination. We report a case of a 46-year-old woman admitted for management of a mass in the medial parapatellar region of the right knee. Her medical history included a burn to the right leg five years ago and a previously undocumented resection of a medial parapatellar tissue mass in the right knee...

Malignant peripheral nerve sheath tumors (MPNST) are the leading cause of death in Neurofibromatosis type 1 (NF1). They can result from premalignant neurofibromas (NF) including NF with atypia and atypical neurofibromatous neoplasms of uncertain biologic potential (ANNUBP). Some phenotypic characteristics have been described as associated with their development. The aim was to outline our use of whole-body 18 F-FDG-PET/MRI in adults with NF1, especially in the screening of asymptomatic individuals with a higher risk of developing a MPNST, and to study its impact on NF classification (malignant vs premalignant) and MPNST staging over time...

BACKGROUND Neurilemmomas are rare tumors derived from the Schwann cells that comprise the peripheral nerve sheaths. They have a slow growth and rarely display malignancy. Early diagnosis is rare, and the treatment consists by surgical resection. Although robotic-assisted surgery is commonly used for treating retroperitoneal diseases, there are few reports of resection of retroperitoneal and pelvic schwannoma through robotic-assisted surgery. In the present study, we reported a case of complete excision of a benign retroperitoneal schwannoma of the obturator nerve by robotic-assisted surgery...

BACKGROUND: Epithelioid malignant peripheral nerve sheath tumor (EMPNST) of the bladder is a rare entity with devastating features. These tumors are thought to originate from malignant transformation of pre-existing schwannomas of pelvic autonomic nerve plexuses, and unlike the conventional malignant peripheral nerve sheath tumor (MPNST), are not associated with neurofibromatosis. The tumor has distinctive morphological, immunohistochemical and molecular features. Additionally, it tends to be more aggressive and have a higher mortality...

Neurofibromatosis type 1 (NF1) is the most common human genetic disease. In these patients, the incidence of malignant peripheral nerve sheath tumors (MPNST) and gastrointestinal stromal tumors (GIST) is increased. A male patient in his forties with neurofibromatosis 1, presented with the coexistence of multiple GISTs located at intestinal and colonic mesentery, MPNST located at his leg and atypical neurofibromatous neoplasm with uncertain biologic potential located at colonic mesentery. By FISH, the MPNST harbored CDKN2A loss and recurred 1 year later...

A 12-year-old castrated male poodle presented with vomiting and diarrhea. Ultrasonography and computed tomography revealed a protruding mass at the caudal pole of the left kidney. Grossly, the poorly circumscribed abnormal mass was 1.6 × 1.8 × 1.9 cm in size and had multifocal dark-red foci. Microscopically, it was composed of densely or loosely packed variable-sized short spindle or ovoid cells. These neoplastic cells showed high pleomorphism, mitotic figures, and invasive tendency to the adjacent tissue...

Early detection of neurofibromatosis type 1 (NF1) associated peripheral nerve sheath tumors (PNST) informs clinical decision-making, potentially averting deadly outcomes. Here, we describe a cell-free DNA (cfDNA) fragmentomic approach which distinguishes non-malignant, pre-malignant and malignant forms of NF1 PNST. Using plasma samples from a novel cohort of 101 NF1 patients and 21 healthy controls, we validated that our previous cfDNA copy number alteration (CNA)-based approach identifies malignant peripheral nerve sheath tumor (MPNST) but cannot distinguish among benign and premalignant states...

BACKGROUND: Schwannomas are uncommon tumors originating from Schwann cells, forming the neural sheath. They account for approximately 2%-6% of all mesenchymal tumors and are most commonly identified in peripheral nerve trunks, with rarity in the gastrointestinal tract. Among gastrointestinal locations, the stomach harbors the majority of nerve sheath tumors, while such occurrences in the sigmoid colon are exceptionally infrequent. CASE SUMMARY: This study presented a clinical case involving a 60-year-old female patient who, during colonoscopy, was diagnosed with a submucosal lesion that was later identified as a nerve sheath tumor...

Malignant peripheral nerve sheath tumors of the scalp are rare neoplasms of the peripheral nervous system. Here, we describe an unusual malignant peripheral nerve sheath tumor of the scalp in an 84-year-old Asian man. The tumor was associated with bony destruction, intracranial, and extracranial extension. Trans-arterial embolization was done twice preoperatively. En block excision was performed and the dura and soft tissue defect were reconstructed by anterolateral thigh free fasciocutaneous flap. There is no recurrence and the wound healed well during follow-up...

Malignant peripheral nerve sheath tumors (MPNSTs) are malignant tumors that are derived from Schwann cell lineage around peripheral nerves. As in many other cancer types, cancer stem cells (CSCs) have been identified in MPNSTs, and they are considered the cause of treatment resistance, recurrence, and metastasis. As an element defining the cancer stemness of MPNSTs, we previously reported a molecular mechanism by which exogenous adrenaline activates a core cancer stemness factor, YAP/TAZ, through β2 adrenoceptor (ADRB2)...