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World Journal of Clinical Cases Jul 2022Peripheral nerve sheath tumors (PNSTs), a rare group of neoplasms in the orbit, comprise only 4% of all orbital tumors. At present, there are very few studies detailing...
BACKGROUND
Peripheral nerve sheath tumors (PNSTs), a rare group of neoplasms in the orbit, comprise only 4% of all orbital tumors. At present, there are very few studies detailing the features of these tumors identified using imaging technology.
AIM
To compare the differences in location, morphology, magnetic resonance imaging (MRI) signal intensity/computed tomography (CT) value, and enhancement degree of tumors of different pathological PNSTs types.
METHODS
Clinical, pathological, CT, and MRI data were analyzed retrospectively in 34 patients with periorbital sheath tumors diagnosed using histopathology from January 2013 to August 2021.
RESULTS
Among 34 cases of orbital peripheral nerve sheath tumors, 21 were schwannomas, 12 were neurofibromas, and 1 was a plexiform neurofibroma. Common clinical symptoms presented by patients with these types of tumors include eyelid swelling, exophthalmos, and limited eye movement. Schwannomas mostly occur in the intramuscular space with small tumor volume and rare bone involvement. Neurofibromas develop in the extrapyramidal space with larger tumor volume and more bone involvement. Radiologically, schwannomas and neurofibromas are characterized by regular morphology and uneven density and signal. One case of plexiform neurofibroma showed tortuous and diffuse growth along the nerve, with a worm-like appearance on imaging.
CONCLUSION
Different pathological types of orbital peripheral nerve sheath tumors have unique imaging characteristics. Comprehensive consideration of the patient's clinical and imaging manifestations is of great value in the diagnosis of orbital peripheral nerve sheath tumors.
PubMed: 36158022
DOI: 10.12998/wjcc.v10.i21.7356 -
Indian Journal of Dermatology May 2013Plexiform neurofibroma is common over the branches of trigeminal and cervical nerves over the face. Plexiform neurofibroma over palm is rare and affects the individuals...
Plexiform neurofibroma is common over the branches of trigeminal and cervical nerves over the face. Plexiform neurofibroma over palm is rare and affects the individuals with fine motor functions of hand. Here, we report a case of isolated plexiform neurofibroma over the palm with review of literature.
PubMed: 23723515
DOI: 10.4103/0019-5154.110883 -
European Journal of Medical Genetics May 2023Surgery is a treatment option for neurofibromatosis type 1 (NF1)-related plexiform neurofibromas (PN), but complete resection is often not feasible. Real-world studies...
Surgery is a treatment option for neurofibromatosis type 1 (NF1)-related plexiform neurofibromas (PN), but complete resection is often not feasible. Real-world studies are warranted to understand disease burden, progression, and need for medical treatment in patients with inoperable PN. CASSIOPEA was a retrospective study of French pediatric patients (aged ≥3 to <18 years) presenting at a national multidisciplinary team (MDT) review with NF1 and ≥1 symptomatic, inoperable PN. Medical records were reviewed from the time of MDT review and over a follow-up period of up to 2 years. Primary objectives were to describe patient characteristics and target PN-associated therapy patterns. A secondary objective was evolution of target PN-related morbidities. Patients with prior, ongoing, or MDT recommendation of mitogen-activated protein kinase kinase (MEK) inhibitor treatment were excluded. Overall, 78 target PN were identified in 76 patients. At MDT review, median age was 8.4 years, with approximately 30% of patients aged 3-6 years. Target PN were primarily internal (77.3%), and 43.2% were progressive. Target PN location was evenly distributed. 34 target PN had documented MDT recommendations; of these, a majority (76.5%) were for non-medication management, including surveillance. At least one follow-up visit was recorded for 74 target PN. Despite initially being considered inoperable, 12.3% of patients underwent surgery for target PN. At MDT review, most (98.7%) target PN were associated with ≥1 morbidity, primarily pain (61.5%) and deformity (24.4%); severe morbidities were identified in 10.3%. Of 74 target PN with follow-up data, 89.2% were associated with ≥1 morbidity, primarily pain (60.8%) and deformity (25.7%). Of 45 target PN associated with pain, pain improved in 26.7%, was stable in 44.4%, and deteriorated in 28.9%. Deformity improved in 15.8% and remained stable in 84.2% of 19 target PN associated with deformity. None deteriorated. In this real-world study in France, NF1-PN disease burden was considerable, and a considerable proportion of patients were very young. Most patients received only supportive care without medication for target PN management. Target PN-related morbidities were frequent, heterogeneous, and generally did not improve during follow-up. These data highlight the importance of effective treatments that target PN progression and improve disease burden.
Topics: Child; Humans; Adolescent; Neurofibromatosis 1; Neurofibroma, Plexiform; Retrospective Studies; Treatment Outcome; Mitogen-Activated Protein Kinase Kinases; Pain
PubMed: 36868501
DOI: 10.1016/j.ejmg.2023.104734 -
Journal of Medical Case Reports Jan 2013Plexiform neurofibroma of the larynx is a rare disease. In this report, we present a plexiform neurofibroma in the arytenoids and neurofibroma in the parapharynx...
INTRODUCTION
Plexiform neurofibroma of the larynx is a rare disease. In this report, we present a plexiform neurofibroma in the arytenoids and neurofibroma in the parapharynx detected coincidently.
CASE PRESENTATION
A 56-year-old Asian woman presented with respiratory distress and episodes of apnea at night. A solitary mass from the left arytenoids was found to be nearly obstructing the airway and causing the sleep apnea. There was also a parapharynx mass protruding into the pharynx. The parapharynx tumor was removed with the lateral incision approach, and the arytenoid tumor was removed with a transoral carbon dioxide laser. The pathologic diagnosis was plexiform neurofibroma for the arytenoid mass and neurofibroma for the parapharynx mass.
CONCLUSION
We have reported an extremely rare case of plexiform neurofibroma in the arytenoids and neurofibroma in the parapharynx. This entity may be considered in the differential diagnosis of all laryngeal and parapharynx masses.
PubMed: 23305487
DOI: 10.1186/1752-1947-7-15 -
Neuro-oncology Advances Jul 2020Plexiform neurofibromas (PNF) are peripheral nerve tumors caused by bi-allelic loss of in the Schwann cell (SC) lineage. PNF are common in individuals with... (Review)
Review
Plexiform neurofibromas (PNF) are peripheral nerve tumors caused by bi-allelic loss of in the Schwann cell (SC) lineage. PNF are common in individuals with Neurofibromatosis type I (NF1) and can cause significant patient morbidity, spurring research into potential therapies. Immune cells are rare in peripheral nerve, whereas in PNF 30% of the cells are monocytes/macrophages. Mast cells, T cells, and dendritic cells (DCs) are also present. mutant neurofibroma SCs with elevated Ras-GTP signaling resemble injury-induced repair SCs, in producing growth factors and cytokines not normally present in SCs. This provides a cytokine-rich environment facilitating PNF immune cell recruitment and fibrosis. We propose a model based on genetic and pharmacologic evidence in which, after loss of in the SC lineage, a lag occurs. Then, mast cells and macrophages are recruited to nerve. Later, T cell/DC recruitment through CXCL10/CXCR3 drives neurofibroma initiation and sustains PNF macrophages and tumor growth. Stat3 signaling is an additional critical mediator of neurofibroma initiation, cytokine production, and PNF growth. At each stage of PNF development therapeutic benefit should be achievable through pharmacologic modulation of leukocyte recruitment and function.
PubMed: 32642730
DOI: 10.1093/noajnl/vdz045 -
Frontiers in Oncology 2021The neurofibromatosis syndromes, including NF1, NF2, and schwannomatosis, are tumor suppressor syndromes characterized by multiple nervous system tumors, particularly... (Review)
Review
The neurofibromatosis syndromes, including NF1, NF2, and schwannomatosis, are tumor suppressor syndromes characterized by multiple nervous system tumors, particularly Schwann cell neoplasms. NF-related tumors are mainly treated by surgery, and some of them have been treated by but are refractory to conventional chemotherapy. Recent advances in molecular genetics and genomics alongside the development of multiple animal models have provided a better understanding of NF tumor biology and facilitated target identification and therapeutic evaluation. Many targeted therapies have been evaluated in preclinical models and patients with limited success. One major advance is the FDA approval of the MEK inhibitor selumetinib for the treatment of NF1-associated plexiform neurofibroma. Due to their anti-neoplastic, antioxidant, and anti-inflammatory properties, selected natural compounds could be useful as a primary therapy or as an adjuvant therapy prior to or following surgery and/or radiation for patients with tumor predisposition syndromes, as patients often take them as dietary supplements and for health enhancement purposes. Here we review the natural compounds that have been evaluated in NF models. Some have demonstrated potent anti-tumor effects and may become viable treatments in the future.
PubMed: 34604034
DOI: 10.3389/fonc.2021.698192 -
Neuro-oncology Nov 2018Plexiform neurofibromas (PN) in neurofibromatosis 1 (NF1) can cause substantial morbidities. Clinical trials targeting PN have recently described decreases in PN...
BACKGROUND
Plexiform neurofibromas (PN) in neurofibromatosis 1 (NF1) can cause substantial morbidities. Clinical trials targeting PN have recently described decreases in PN volumes. However, no previous study has assessed the association between changes in PN volumes and PN-related morbidities. Our objective was to assess if increasing PN volume in NF1 is associated with increasing PN-related morbidity.
METHODS
This is a retrospective review of patients enrolled on the NCI NF1 natural history study with ≥7 years of data available. Morbidities including pain, motor dysfunction, vision loss, and PN-related surgery were assessed at time of baseline PN MRI with volumetric analysis and time of MRI with maximum PN volume.
RESULTS
Forty-one patients (median age at baseline 8 y) with 57 PN were included. At baseline, 40 PN had at least 1 PN-associated morbidity. During the observation period, 27 PN required increasing pain medication, and these PN grew faster per year (median difference 8.3%; 95% CI: 2.4, 13.8%) than those PN which did not. PN resulting in motor impairment at baseline (n = 11) had larger volumes compared with those that did not (median difference 461 mL; 95% CI: 66.9, 820).
CONCLUSIONS
Many NF1 PN were associated with clinically significant morbidity at baseline, highlighting the need for longitudinal morbidity evaluations starting at an early age to capture changes in PN-associated morbidities. Prospective evaluation of standardized patient reported and functional outcomes in clinical trials are ongoing and may allow further characterization of the association of PN volume increase or decrease and clinical changes.
Topics: Adolescent; Adult; Child; Child, Preschool; Disease Progression; Female; Follow-Up Studies; Humans; Incidence; Male; Maryland; Morbidity; Neurofibroma, Plexiform; Neurofibromatosis 1; Prognosis; Retrospective Studies; Young Adult
PubMed: 29718344
DOI: 10.1093/neuonc/noy067 -
Scientific Data Jun 2018Neurofibromatosis type I (NF1) is an autosomal dominant genetic condition characterized by peripheral nervous system tumors (PNSTs), including plexiform neurofibromas...
Neurofibromatosis type I (NF1) is an autosomal dominant genetic condition characterized by peripheral nervous system tumors (PNSTs), including plexiform neurofibromas (pNFs) that cause nerve dysfunction, deformity, pain damage to adjacent structures, and can undergo malignant transformation. There are no effective therapies to prevent or treat pNFs. Drug discovery efforts are slowed by the 'benign' nature of the Schwann cells that are the progenitor cells of pNF. In this work we characterize a set of pNF-derived cell lines at the genomic level (via SNP Arrays, RNAseq, and Whole Exome- Sequencing), and carry out dose response-based quantitative high-throughput screening (qHTS) with a collection of 1,912 oncology-focused compounds in a 1536-well microplate cell proliferation assays. Through the characterization and screening of NF1, NF1 and NF1 Schwann cell lines, this resource introduces novel therapeutic avenues for the development for NF1 associated pNF as well as all solid tumors with NF1 somatic mutations. The integrated data sets are openly available for further analysis at http://www.synapse.org/pnfCellCulture.
Topics: Antineoplastic Agents; Cell Line, Tumor; Gene Expression Profiling; Humans; Neurofibroma, Plexiform; Neurofibromatosis 1; Schwann Cells
PubMed: 29893754
DOI: 10.1038/sdata.2018.106 -
Journal of Dentistry (Shiraz, Iran) Sep 2016In oral cavity neurogenic tumors are rare, especially if they are malignant. Neurofibromas are the benign tumors of nerve sheath origin involving multiple nerve...
In oral cavity neurogenic tumors are rare, especially if they are malignant. Neurofibromas are the benign tumors of nerve sheath origin involving multiple nerve fascicles of the smaller branches of peripheral nerves. They may present as solitary lesions or as a part of generalized syndrome of neurofibromatosis also known as von Recklinghausen's disease (VRD) or very rarely as multiple neurofibromas without VRD. Oral solitary neurofibromas are not uncommon, but histologically plexiform variant is a rare form. This article describes a case of oral solitary plexiform neurofibroma with a review of literature.
PubMed: 27840843
DOI: No ID Found -
Brain and Behavior Jun 2022Neurofibromatosis type 1 (NF1) is a chronic and progressive autosomal dominant genetic and sporadic disease characterized by cutaneous and neurological abnormalities....
BACKGROUND
Neurofibromatosis type 1 (NF1) is a chronic and progressive autosomal dominant genetic and sporadic disease characterized by cutaneous and neurological abnormalities. Plexiform neurofibroma (PN), a significant cause of clinical complications in NF-1, is a benign tumor of the peripheral nerve sheath that involves multiple nerve fascicles. Although there is an important number of patients who are affected by NF1 in Brazil, there is little data on the behavior of the disease in the national literature as well as in other low- and middle-income countries.
METHODS
We performed a retrospective analysis of 491 patients with NF1 followed at two reference centers in Brazil.
RESULTS
Approximately 38% of patients had PNs, resulting in reduced life quality. The median patient age with PNs was 30 years (range: 6 to 83 years). Head and neck, and extremity were the main affected locations with 35.8 and 30.6%, respectively. PNs were classified as asymptomatic in 25.1% of patients, while 52.5% presented symptomatic and inoperable tumors. The most common manifestations related to PNs were disfigurement and orthopedic involvement. Twenty patients developed neoplasms and ten (50%) presented with malignant peripheral nerve sheath tumors (MPNST). The prevalence of MPNST in our study was 2.9%.
CONCLUSIONS
Patients with NF1 experience clinically significant morbidity, especially when it is associated with PN. Though there are many patients affected by NF1 in Brazil and other low- and middle-income countries, there is little data available in the corresponding literature. Our results are comparable to the previous results reported from higher-income countries and international registries.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Brazil; Child; Humans; Middle Aged; Neurofibroma, Plexiform; Neurofibromatosis 1; Neurofibrosarcoma; Retrospective Studies; Young Adult
PubMed: 35506373
DOI: 10.1002/brb3.2599