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Plexiform Neurofibroma

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https://www.readbyqxmd.com/read/29893754/pharmacological-and-genomic-profiling-of-neurofibromatosis-type-1-plexiform-neurofibroma-derived-schwann-cells
#1
Marc Ferrer, Sara J C Gosline, Marigo Stathis, Xiaohu Zhang, Xindi Guo, Rajarshi Guha, Dannielle A Ryman, Margaret R Wallace, Laura Kasch-Semenza, Haiping Hao, Roxann Ingersoll, David Mohr, Craig Thomas, Sharad Verma, Justin Guinney, Jaishri O Blakeley
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...
June 12, 2018: Scientific Data
https://www.readbyqxmd.com/read/29868161/large-penile-plexiform-neurofibroma-in-an-11-year-old-boy
#2
Nwokoro Chingbundu Collins, Emmanuel Ezekiel Ayodeji, Fatungase Oluwabunmi Motunrayo, Salami Babatunde Abayomi, Ogundele Ibukunolu Olufemi, Amosu Lukmon Olusesan
Background: Neurofibromatosis is a genetically inherited disorder of the nervous system (brain and spinal cord) which mainly affects the development of nerve (neural) cell tissues, causing tumors (neurofibromas) to develop on nerves. It is the most common single gene disorder of the nervous system and inheritance is through autosomal dominance. They are usually classified into types 1 and 2, the type 1 is the commoner type and also known as superficial neurofibroma. Plexiform neurofibromas are the next most common type of tumor in individuals with type 1 neurofibroma...
March 2018: Malawi Medical Journal: the Journal of Medical Association of Malawi
https://www.readbyqxmd.com/read/29849532/nonoperative-management-may-be-a-viable-approach-to-plexiform-neurofibroma-of-the-porta-hepatis-in-patients-with-neurofibromatosis-1
#3
Natesh Yepuri, Rana Naous, Camille Richards, Dilip Kittur, Ajay Jain, Mashaal Dhir
Background: Plexiform neurofibroma (PNF) in the porta hepatis (PH) is an unusual manifestation of neurofibromatosis-1 (NF-1). Resection is often recommended given the risk of malignant transformation. We encountered a challenging case in clinical practice which prompted us to report our findings and perform a systematic review on the management of these tumors. Methods: We reported the case of a 31-year-old woman with NF-1 and PNF of the PH. PRISMA 2009 guidelines were followed for systematic review...
2018: HPB Surgery: a World Journal of Hepatic, Pancreatic and Biliary Surgery
https://www.readbyqxmd.com/read/29796689/epidemiological-analysis-of-major-complications-requiring-medical-intervention-in-patients-with-neurofibromatosis-1
#4
Yuichi Yoshida, Yuko Ehara, Monji Koga, Shinichi Imafuku, Osamu Yamamoto
Neurofibromatosis 1 has various complications. To elucidate the frequency of neurofibromatosis 1-related major complications requiring medical intervention, a nationwide retrospective study was conducted of 3,530 patients with neurofibromatosis 1 registered from 2001 to 2014 in Japan. The ratio of certified patients requiring medical intervention (>stage 3) was 82%. Patients classified in the most severe grade experienced dermatological complications (71.8% of patients), neurological complications (38.1%) and bone complications (33...
May 24, 2018: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29796169/aberrant-atrx-protein-expression-is-associated-with-poor-overall-survival-in-nf1-mpnst
#5
Hsiang-Chih Lu, Vanessa Eulo, Anthony J Apicelli, Melike Pekmezci, Yu Tao, Jingqin Luo, Angela C Hirbe, Sonika Dahiya
Malignant Peripheral Nerve Sheath Tumors (MPNSTs) are aggressive soft tissue sarcomas that can occur sporadically or in the setting of the Neurofibromatosis type 1 (NF1) cancer predisposition syndrome. These tumors carry a dismal overall survival. Previous work in our lab had identified ATRX chromatin remodeler ( ATRX ), previously termed, Alpha Thalassemia/Mental Retardation Syndrome X Linked as a gene mutated in a subset of MPNSTs. Given the great need for novel biomarkers and therapeutic targets for MPNSTs, we sought to determine the expression of ATRX in a larger subset of sporadic and NF1 associated MPNSTs (NF1-MPNSTs)...
May 1, 2018: Oncotarget
https://www.readbyqxmd.com/read/29795773/hepatic-periportal-retroperitoneal-and-mesenteric-neurofibromatosis-in-von-recklinghausen-s-disease
#6
Kumail Khandwala, Zafar Sajjad, Summar-Un-Nisa Abbasi, Muhammad Usman Tariq
We present a rare case of histologically proven neurofibromatosis of the liver, hepatic hilum, retroperitoneum, and mesentery. An adult male who had been diagnosed with neurofibromatosis (NF) type 1 underwent a computed tomography (CT) scan for abdominal pain and vomiting. The CT scan showed a large low-attenuating lesion in the region of porta hepatis which was infiltrating along portal tracts into the liver, encasing the major vessels, and extending into the retroperitoneum and mesentery. Based on the radiological findings, a differential diagnosis of plexiform neurofibroma was given, although sarcomatous transformation could not have been entirely excluded from imaging alone...
February 28, 2018: Curēus
https://www.readbyqxmd.com/read/29774626/analysis-of-intra-tumor-heterogeneity-in-neurofibromatosis-type-1-plexiform-neurofibromas-and-neurofibromas-with-atypical-features-correlating-histological-and-genomic-findings
#7
Meritxell Carrió, Bernat Gel, Ernest Terribas, Adriana Carolina Zucchiatti, Teresa Moliné, Inma Rosas, Álex Teulé, Santiago Ramón Y Cajal, Juan Carlos López-Gutiérrez, Ignacio Blanco, Elisabeth Castellanos, Conxi Lázaro, Anat Stemmer-Rachamimov, Cleofé Romagosa, Eduard Serra
Plexiform neurofibromas (PNFs) are benign peripheral nerve sheath tumors involving large nerves present in 30-50% Neurofibromatosis type 1 (NF1) patients. Atypical neurofibromas (ANF) are distinct nodular lesions with atypical features on histology that arise from PNFs. The risk and timeline of malignant transformation in ANF is difficult to assess. A recent NIH workshop has stratified ANFs and separated a subgroup with multiple atypical features and higher risk of malignant transformation termed atypical neurofibromatous neoplasms with uncertain biological potential (ANNUBP)...
May 17, 2018: Human Mutation
https://www.readbyqxmd.com/read/29774221/magnetic-resonance-imaging-findings-for-differential-diagnosis-of-perianal-plexiform-schwannoma-case-report-and-review-of-the-literature
#8
Xue-Liang Sun, Ke Wen, Zhi-Zhong Xu, Xiao-Peng Wang
Plexiform schwannoma is an extremely rare variant of schwannoma, accounting for approximately 5% of cases. Due to the rarity and lack of typical symptoms, signs and radiological images, a definite diagnosis of plexiform schwannoma may not be made by clinicians prior to biopsy. In the present study, we report the first case (to our knowledge) of perianal plexiform schwannoma arising from the overlapped skin of the ischioanal fossa, and we propose an intratumorally nonenhanced circumferential capsule dividing the tumour into multiple homogeneously enhanced nodules as a magnetic resonance imaging feature to aid in the differential diagnosis of plexiform schwannoma from ancient schwannoma, cavernous haemangioma, liposarcoma and plexiform neurofibroma...
May 16, 2018: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/29768331/the-value-of-18f-fdg-pet-ct-in-patient-with-neurofibromatosis-type-1-a-case-report-and-literature-review
#9
Jiazhong Ren, Guoren Yang, Jing Zhou, Zheng Fu
RATIONALE: Neurofibromatosis type one (NF1) is characterized by cutaneous and nervous lesions, and the tendency to form plexiform neurofibromas (PNFs). PNFs may undergo malignant transformation into a malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs often carry an significant morbidity and mortality. PATIENT CONCERNS: A 17-year-old man with gradually increased multiple subcutaneous soft lesions. He also presented with numerous lentigines and multiple café-au-lait macules on his body...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29766474/masses-of-developmental-and-genetic-origin-affecting-the-paediatric-craniofacial-skeleton
#10
REVIEW
Salvatore Stefanelli, Pravin Mundada, Anne-Laure Rougemont, Vincent Lenoir, Paolo Scolozzi, Laura Merlini, Minerva Becker
Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. The most common lesions include fibrous dysplasia, dermoid cysts, vascular malformations and plexiform neurofibromas. Less common lesions include torus mandibularis and torus palatinus, cherubism, nevoid basal cell carcinoma syndrome, meningoencephalocele and nasal sinus tract...
May 15, 2018: Insights Into Imaging
https://www.readbyqxmd.com/read/29764701/a-combination-of-skeletal-deformations-of-the-dorsal-mandible-and-temporomandibular-region-detected-in-orthopantomograms-of-patients-with-neurofibromatosis-type-1-indicates-an-associated-ipsilateral-plexiform-neurofibroma
#11
Reinhard E Friedrich, Anika Reul
PURPOSE: Neurofibromatosis type 1 (NF1) is a tumour suppressor syndrome and also a bone disease. In the craniofacial region, local skeletal deformities have been recorded in patients with NF1. Obvious syndrome-related alterations of the jaws are particularly conspicuous in the mandible. Here we aimed to analyse the mandibular alterations of NF1-affected individuals from orthopantomograms (OPGs). MATERIALS AND METHODS: This study analyses 358 OPGs of 358 patients (mean age, 34...
April 26, 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29738061/use-of-ultrasound-guided-supraclavicular-brachial-plexus-block-as-an-anesthesia-technique-in-a-patient-with-neurofibromatosis-type-1-a-case-report
#12
Emine Aysu Şalvız, Emre Sertaç Bingül, Meltem Savran Karadeniz, Ömer Berköz, Erman Ak, Kamil Mehmet Tuğrul
Neurofibromatosis type 1 is an autosomal dominant condition characterized by cutaneous and/or plexiform neurofibromas and hyperpigmented café-au-lait spots. It affects multiple endocrine and visceral organs and can be associated with several difficulties such as potential airway (ventilation/intubation) problems, abnormal spinal anatomy, and peripheral neurofibromas. Therefore, anesthesia technique selection becomes more of an issue in terms of avoiding complications and decreasing morbidity and mortality...
April 2018: Aǧrı: Ağrı (Algoloji) Derneği'nin Yayın Organıdır, the Journal of the Turkish Society of Algology
https://www.readbyqxmd.com/read/29718344/association-of-plexiform-neurofibroma-volume-changes-and-development-of-clinical-morbidities-in-neurofibromatosis-1
#13
Andrea M Gross, Gurbani Singh, Srivandana Akshintala, Andrea Baldwin, Eva Dombi, Somto Ukwuani, Anne Goodwin, David J Liewehr, Seth M Steinberg, Brigitte C Widemann
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: Retrospective review of patients enrolled on the NCI NF1 Natural History study with ≥ 7 years of data available...
April 28, 2018: Neuro-oncology
https://www.readbyqxmd.com/read/29695767/cutaneous-neurofibromas-in-the-genomics-era-current-understanding-and-open-questions
#14
REVIEW
Robert J Allaway, Sara J C Gosline, Salvatore La Rosa, Pamela Knight, Annette Bakker, Justin Guinney, Lu Q Le
Cutaneous neurofibromas (cNF) are a nearly ubiquitous symptom of neurofibromatosis type 1 (NF1), a disorder with a broad phenotypic spectrum caused by germline mutation of the neurofibromatosis type 1 tumour suppressor gene (NF1). Symptoms of NF1 can include learning disabilities, bone abnormalities and predisposition to tumours such as cNFs, plexiform neurofibromas, malignant peripheral nerve sheath tumours and optic nerve tumours. There are no therapies currently approved for cNFs aside from elective surgery, and the molecular aetiology of cNF remains relatively uncharacterised...
April 26, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29681099/2016-children-s-tumor-foundation-conference-on-neurofibromatosis-type-1-neurofibromatosis-type-2-and-schwannomatosis
#15
Michael J Fisher, Allan J Belzberg, Peter de Blank, Thomas De Raedt, Florent Elefteriou, Rosalie E Ferner, Marco Giovannini, Gordon J Harris, Michel Kalamarides, Matthias A Karajannis, AeRang Kim, Conxi Lázaro, Lu Q Le, Wei Li, Robert Listernick, Staci Martin, Helen Morrison, Eric Pasmant, Nancy Ratner, Elisabeth Schorry, Nicole J Ullrich, David Viskochil, Brian Weiss, Brigitte C Widemann, Yuan Zhu, Annette Bakker, Eduard Serra
Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29670726/decayed-missing-and-restored-teeth-in-patients-with-neurofibromatosis-type-1
#16
Reinhard E Friedrich, Anika Reul
Background: NF1 is a relatively frequently occurring autosomal dominant inherited disease. There are conflicting reports about oral health status in NF1. The aim of this study was to analyze the dental status of patients with neurofibromatosis type 1 (NF1). Material and Methods: Radiographs of 179 patients with NF1 were analyzed for decayed, missing, and filled teeth (DMFT) in a cross-sectional, retrospective study. The results were compared to age- and sex-matched controls of individuals not affected by NF1...
February 2018: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/29662612/exploiting-mitochondrial-and-metabolic-homeostasis-as-a-vulnerability-in-nf1-deficient-cells
#17
Robert J Allaway, Matthew D Wood, Sondra L Downey, Stephanie J Bouley, Nicole A Traphagen, Jason D Wells, Jaya Batra, Sir Norman Melancon, Carol Ringelberg, William Seibel, Nancy Ratner, Yolanda Sanchez
Neurofibromatosis type 1 is a disease caused by mutation of neurofibromin 1 ( NF1 ), loss of which results in hyperactive Ras signaling and a concomitant increase in cell proliferation and survival. Patients with neurofibromatosis type 1 frequently develop tumors such as plexiform neurofibromas and malignant peripheral nerve sheath tumors. Mutation of NF1 or loss of the NF1 protein is also observed in glioblastoma, lung adenocarcinoma, and ovarian cancer among other sporadic cancers. A therapy that selectively targets NF1 deficient tumors would substantially advance our ability to treat these malignancies...
March 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29651404/unusual-evolution-of-plexiform-neurofibroma-in-the-scalp-a-case-report
#18
Amine Rafik, Mounia Diouri, Naima Bahechar, Abdessamad Chlihi
The neurofibromatosis is a frequent and polymorphic genetic disorder. The severity is related to the complications. The degeneration of neurofibroma is a very rare complication of neurofibromatosis. In the literature, a few cases of solitary neurofibroma, which turned into a malignant tumor were reported. In our case, we described a very rare clinical case of neurofibrosarcoma in the scalp, and surgical treatment.
January 2018: World Journal of Plastic Surgery
https://www.readbyqxmd.com/read/29607552/pathophysiology-and-management-of-glaucoma-associated-with-phakomatoses
#19
REVIEW
Alisa T Thavikulwat, Deepak P Edward, Abdulrahman AlDarrab, Thasarat S Vajaranant
The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe...
April 1, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29599350/periapical-cemento-osseous-dysplasia-is-rarely-diagnosed-on-orthopantomograms-of-patients-with-neurofibromatosis-type-1-and-is-not-a-gender-specific-feature-of-the-disease
#20
Reinhard E Friedrich, Anika Reul
Several skeletal aberrations of the skull have been described for the tumor predisposition syndrome neurofibromatosis type 1 (NF1). Recently, periapical cemental/cemento-osseous dysplasia (COD) has been described in females affected with NF1. This reactive lesion of the hard tissues in tooth-bearing areas of the jaw has been proposed to represent a gender-specific radiological feature of NF1. The aim of this study was to investigate the prevalence of COD in patients with NF1. PATIENTS AND METHODS: The orthopantomograms (OPGs) of 179 patients with a confirmed diagnosis of NF1 were analyzed for COD...
April 2018: Anticancer Research
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