Genomes and Genes
Summary: A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)
Publications243 found, 100 shown here
- Solitary neurofibroma of the gingiva with prominent differentiation of Meissner bodies: a case reportJun Ohno
Department of Morphological Biology, Division of Pathology, Fukuoka Dental College, Fukuoka, Japan
Diagn Pathol 5:61. 2010..Oral neurofibromas are peripheral nerve sheath tumors, similar to schwannomas. Histological variations in oral neurofibromas are relatively uncommon...
- PTEN dosage is essential for neurofibroma development and malignant transformationCaroline Gregorian
Department of Molecular and Medical Pharmacology, Institute for Molecular Medicine, University of California, Los Angeles, CA 90095, USA
Proc Natl Acad Sci U S A 106:19479-84. 2009..Our data suggest that combined inhibition of RAS/RAF/MAPK and PTEN/PI3K/AKT pathways may be beneficial for patients with MPNST...
- Genome-wide transcriptome analyses reveal p53 inactivation mediated loss of miR-34a expression in malignant peripheral nerve sheath tumoursSubbaya Subramanian
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA
J Pathol 220:58-70. 2010..The malignant transformation of the benign neurofibroma to MPNST is incompletely understood at the molecular level...
- High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridizationKiran K Mantripragada
Institute of Medical Genetics, Cardiff University, School of Medicine, Heath Park, Cardiff, United Kingdom
Clin Cancer Res 14:1015-24. 2008....
- On the AJR viewbox. Diffuse neurofibroma of the arm: MR characteristicsGuo Shu Huang
Department of Radiology, Tri Service General Hospital, National Defense Medical Center, Taipei, Taiwan, Republic of China
AJR Am J Roentgenol 184:1711-2. 2005
- MicroRNA-21 correlates with tumorigenesis in malignant peripheral nerve sheath tumor (MPNST) via programmed cell death protein 4 (PDCD4)Satoru Itani
Department of Orthopaedic Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan
J Cancer Res Clin Oncol 138:1501-9. 2012..nerve tumors and clarified the involvement of miRNA in the development and progression of MPNST in comparison with neurofibroma (NF). In addition, we attempted to seek associations between the miRNA and their potential targets in MPNST.
- Induction of abnormal proliferation by nonmyelinating schwann cells triggers neurofibroma formationHuarui Zheng
Division of Molecular Medicine and Genetics, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI 48109, USA
Cancer Cell 13:117-28. 2008..utilizing genetically engineered mouse models of neurofibromatosis type 1 (NF1), we demonstrated that plexiform neurofibroma, the only benign peripheral nerve sheath tumor with potential for malignant transformation, results from Nf1 ..
- Cytogenetic characterization of peripheral nerve sheath tumours: a report of the CHAMP study groupF Mertens
Department of Clinical Genetics, University Hospital, Lund, Sweden
J Pathol 190:31-8. 2000..The cytogenetic findings in peripheral nerve sheath tumours show that the karyotype is a good discriminator between BPNSTs and MPNSTs, and that the pattern of aberrations among the latter may add prognostic information...
- Retroperitoneal transdiaphragmatic robotic-assisted laparoscopic resection of a left thoracolumbar neurofibromaRoss M Moskowitz
Department of Urology, University of California, Irvine, Irvine, California, USA
JSLS 13:64-8. 2009..This report describes the first use of robotic technology to resect a left thoracolumbar neurofibroma.
- Multicenter study of wound healing in neurofibromatosis and neurofibromaTakeshi Miyawaki
Institute for Craniofacial and Reconstructive Surgery, Affiliated with Providence Hospital, Southfield, Michigan 48075, USA
J Craniofac Surg 18:1008-11. 2007..The patients with solitary neurofibroma were also included in this study; these were compared with the NF-1 group...
- Perinatal epidermal growth factor receptor blockade prevents peripheral nerve disruption in a mouse model reminiscent of benign world health organization grade I neurofibromaJianqiang Wu
Division of Experimental Hematology, Department of Pediatrics, Cincinnati Children s Hospital, OH 45229 7013, USA
Am J Pathol 168:1686-96. 2006..Some neurofibroma Schwann cells aberrantly express the epidermal growth factor receptor (EGFR)...
- Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findingsGill Spurlock
Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN Wales, UK
J Cancer Res Clin Oncol 136:1869-80. 2010..Many MPNSTs are histopathologically complex, with regions exhibiting features of the original benign plexiform neurofibroma (PNF), of an atypical PNF, or of MPNST showing varying degrees of de-differentiation...
- Neurofibroma of the common bile duct: a rare cause of obstructive jaundiceSukanta Ray
Division of Surgical Gastroenterology, School of Digestive and Liver Diseases, Institute of Postgraduate Medical Education and Research, Kolkata, West Bengal, India
Am J Surg 202:e1-3. 2011b>Neurofibroma of the common bile duct is extremely rare. Fewer than 20 cases have been reported in the literature. We report a case of neurofibroma in a 47-year-old female presented with obstructive jaundice...
- Multinucleated floret-like giant cells in sporadic and NF1-associated neurofibromas: a clinicopathologic study of 94 casesGaetano Magro
Dipartimento G F Ingrassia, Policlinico Universitario G Rodolico, Anatomia Patologica, Universita di Catania, Via S Sofia 87, Catania, Italy
Virchows Arch 456:71-6. 2010..Accordingly, it has been suggested that their detection, especially in an otherwise typical neurofibroma, could be a morphological clue to diagnosis of NF1...
- Imaging appearance of diffuse neurofibromaDouglass S Hassell
Department of Radiology, Mayo Clinic, 4500 San Pablo Rd, Jacksonville, FL 32224 3899, USA
AJR Am J Roentgenol 190:582-8. 2008The purposes of this study were to describe the imaging appearance of diffuse neurofibroma in 10 patients and to summarize demographic data on a large group of patients.
- Transgenic mice overexpressing neuregulin-1 model neurofibroma-malignant peripheral nerve sheath tumor progression and implicate specific chromosomal copy number variations in tumorigenesisSyed J Kazmi
Department of Pathology, The University of Alabama at Birmingham, Birmingham, Alabama 35294 0017, USA
Am J Pathol 182:646-67. 2013..A genetically engineered mouse model that accurately models plexiform neurofibroma-MPNST progression in humans would facilitate identification of somatic mutations driving this process...
- Cutaneous lipomatous neurofibroma: characterization and frequencyJ Fernando Val-Bernal
Department of Anatomical Pathology, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
J Cutan Pathol 32:274-9. 2005There are numerous variants of cutaneous neurofibroma reflecting its manner of growth and histologic composition. Lipomatous neurofibroma is the latest described variant with only eight cases reported.
- Isolated orbital neurofibroma in NF-1 negative patientsPanrapee Funarunart
Department of Ophthalmology, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, Thailand
J Med Assoc Thai 94:1281-2. 2011Isolated orbital neurofibroma unassociated with systemic neurofibromatosis is relatively rare and may be difficult to clinically differentiate from other orbital tumors...
- Pure sclerotic neurofibroma: a neurofibroma mimicking sclerotic fibromaM Carmen González-Vela
Department of Anatomical Pathology, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
J Cutan Pathol 33:47-50. 2006b>Neurofibroma (NF) is a benign tumor of the nerve sheath. Several variants of NF have been described.
- Congenital melanocytic naevus with associated neurofibroma and schwannoma-like changeEmma McCann
Department of Clinical Genetics, Royal Liverpool Children s Hospital, Eaton Rd, Liverpool, UK
Clin Dysmorphol 14:159-60. 2005..A case is reported where nodules arising from a naevus were examined histologically and were found to have neurofibroma and schwannoma like elements but strong positivity for S100 protein in keeping with dermal melanocytes...
- Role for the epidermal growth factor receptor in neurofibromatosis-related peripheral nerve tumorigenesisBenjamin C Ling
Departments of Cell Biology, Neurobiology, and Anatomy, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267, USA
Cancer Cell 7:65-75. 2005..Genetic reduction of EGFR in Nf1(+/-);p53(+/-) mice that develop sarcomas significantly improved survival. Thus, gain- and loss-of-function experiments support the relevance of EGFR to peripheral nerve tumor formation...
- Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibitionCarlos E Prada
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
Acta Neuropathol 125:159-68. 2013..Macrophages accounted for almost half of neurofibroma cells, leading us to hypothesize that nerve macrophages are inflammatory effectors in neurofibroma development ..
- Parapelvic neurofibroma of the kidneyT Nishiyama
Department of Urology, Koseiren Nagaoka Chuo General Hospital, Niigata, Japan
Int J Urol 7:470-1. 2000We report the first case of neurofibroma causing obstruction by external compression of the upper renal pelvis. A 33-year-old woman reported a 1-year history of dull lumbar pain on the right side...
- Neurofibroma adjacent to the thyroid gland and a thyroid papillary carcinoma in a patient with neurofibromatosis type 1: report of a caseYavuz Koksal
Department of Pediatric Oncology, Selcuk University, Konya 42080, Turkey
Surg Today 39:884-7. 2009..It is also rare for a neurofibroma to arise in the tissue neighboring the thyroid gland, and mimicking a nonfunctional thyroid nodule...
- Neurofibroma in the colonAri Wiesen
J Clin Gastroenterol 40:85-6. 2006
- The biology and management of laryngeal neurofibromaReza Rahbar
Department of Otolaryngology and Communication Disorders, Children s Hospital, Harvard Medical School, Boston, Mass, USA
Arch Otolaryngol Head Neck Surg 130:1400-6. 2004To review the presentation of laryngeal neurofibroma, including its association with neurofibromatosis types 1 and 2, and present guidelines for its management.
- Isolated neurofibroma of the orbit with extensive myxoid changes: a clinicopathologic study including MRI and electron microscopic findingsUlrike B Kottler
Department of Ophthalmology and Eye Hospital, Univeresity of Erlangen Nürnberg, Erlangen, Germany
Orbit 23:59-64. 2004Isolated orbital neurofibroma (INO) without systemic neurofibromatosis is rare. Previous reports including MRI with elaboration of the ultrastructural features of the cellular and extracellular components in INO do not exist...
- Solitary neurofibroma of the spermatic cordCharalampos Deliveliotis
Department of Urology, Sismanoglio Hospital, Medical School of Kapodistrian, University of Athens, Greece
Int Urol Nephrol 34:373-5. 2002We report a case of solitary neurofibroma of the spermatic cord. Such benign tumors arise from perineural and Schwann cells and may be located in various parts of the body, but are rarely observed in the spermatic cord...
- Solitary neurofibroma of kidney: clinical, histological and chromosomal appearanceAthanasios Kostakopoulos
Department of Urology, University of Athens, Sismanoglio Hospital, Greece
Int Urol Nephrol 35:11-3. 2003..unusual case of solitary renal mass that histological examination following nephrectomy confirms that it was a neurofibroma. Neoplasmatic markers though, were found elevated and chromosomal analysis revealed a Karyotype similar to the ..
- An unusual presentation of a solitary benign giant neurofibroma. Case reportLiqun Yang
Department of Neurosurgery, Gold Coast Hospital, Gold Coast, Brisbane, Southport, Australia
J Neurosurg Spine 11:49-52. 2009..Histopathological investigation identified a benign, diffuse neurofibroma with associated dysplastic blood vessels exhibiting irregular areas of tunica media and sinusoidal-like ..
- Solitary neurofibroma of the pancreas body not associated with type 1 neurofibromatosisPei Jiun Tsai
Institute of Clinical Medicine, National Yang Ming University School of Medicine, Taipei, Taiwan, ROC
J Chin Med Assoc 75:132-5. 2012..Here, we report a case of a neurofibroma in a 44-year-old woman who initially presented with epigastralgia. Imaging revealed one large cystic mass of 5...
- [A giant neurofibroma of the diaphragm]A A Korolev
Bryansk Institute of Pathology, 241033, Bryansk
Arkh Patol 64:49-50. 2002A very rare case of giant neurofibroma located in the pleural cavity is reported. Such tumors may simulate malignant tumors and secondary tuberculosis.
- At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control studyEmilie Sbidian
Université Paris Est UPEC, LIC EA4393 Laboratoire d Investigation Clinique, F 94010 Creteil, France
Orphanet J Rare Dis 6:51. 2011....
- Mast cells and the neurofibroma microenvironmentKarl Staser
Department of Biochemistry, and Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN, USA
Blood 116:157-64. 2010..Studies from human and murine models that closely recapitulate human plexiform neurofibroma formation indicate that tumorigenesis necessitates NF1 loss of heterozygosity in the Schwann cell...
- Solitary neurofibroma of the spermatic cordKonstantinos N Milathianakis
Department of Urology, Anticancer Hospital of Piraeus Metaxa, Piraeus, Greece
Urol Int 72:271-4. 2004..The solitary neurofibroma is a localized tumour that, by definition, occurs in patients who do not have von Recklinghausen's disease...
- CT and MRI appearance of solitary parapelvic neurofibroma of the kidneyS Eljack
Department of Pathology, Bellevue Hospital Center, 462 First Avenue, New York, NY 10016, USA
Br J Radiol 83:e108-10. 2010We report an extremely rare case of a renal parapelvic neurofibroma. The mass was an incidental finding on an abdominal CT scan of an asymptomatic 59-year-old male with hepatitis C...
- Occult neurofibroma and increased S100 protein in the skin of patients with neurofibromatosis type 1: new insight to the etiopathomechanism of neurofibromasS L Karvonen
Department of Dermatology, University Hospital of Oulu, FIN 90220 Oulu, Finland
Arch Dermatol 136:1207-9. 2000..There is evidence that the appearance and growth of neurofibromas may be associated with prior or ongoing mechanical trauma in patients with neurofibromatosis type 1 (NF1)...
- The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular originG R Skuse
Division of Genetics, University of Rochester School of Medicine, NY
Am J Hum Genet 49:600-7. 1991..2. The most common symptomatic manifestation of NF1 is the benign neurofibroma. Our previous studies of tumors in NF1, studies which detected a loss of heterozygosity for DNA markers from ..
- Neurofibroma development in NF1--insights into tumour initiationSimona Parrinello
MRC Laboratory for Molecular Cell Biology and the UCL Cancer Institute, University College London, Gower Street, London WC1E 6BT, UK
Trends Cell Biol 19:395-403. 2009..mature differentiated Schwann cells as the cell of origin and revealed the molecular and cellular mechanisms of neurofibroma initiation...
- Olfactory ensheathing cell tumor with neurofibroma-like features: a case report and review of the literatureShih Chieh Lin
Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taiwan, ROC
J Neurooncol 97:117-22. 2010..The tumor was designated as olfactory ensheathing cell tumor with neurofibroma-like features...
- Solitary subungual neurofibroma: a previously unreported finding in a male patientDionne de Almeida Stolarczuk
Pedro Ernesto Teaching Hospital, State University of Rio de Janeiro UERJ, Rio de Janeiro, RJ, Brazil
An Bras Dermatol 86:569-72. 2011A neurofibroma is a hamartomatous proliferation of neuromesenchymal origin. It may be found in combination with neurofibromatosis or in the form of a solitary tumor. Clinical presentation as a solitary subungual tumor is very rare...
- Gingival neurofibroma in a neurofibromatosis type 1 patientJosé Antonio García de Marcos
Oral and Maxillofacial Surgery Department, Complejo Hospitalario Universitario de Albacete, Albacete, Spain
Med Oral Patol Oral Cir Bucal 12:E287-91. 2007b>Neurofibroma is a benign peripheral nerve sheath tumour. It is one of the most frequent tumours of neural origin and its presence is one of the clinical criteria for the diagnosis of type 1 neurofibromatosis (NF-I)...
- Evolving pattern with age of cutaneous signs in neurofibromatosis type 1: a cross-sectional study of 728 patientsT A Duong
Department of Dermatology, AP HP, Hopital Henri Mondor, Universite Paris Est, Creteil, France
Dermatology 222:269-73. 2011..Neurofibromatosis type 1 is fully penetrant by the age of 8 years, and 3 criteria of diagnosis are dermatological: café-au-lait spots (CLS), intertriginous freckling and neurofibromas (NF)...
- Potential role of 18fluorodeoxyglucose-positron emission tomography/computed tomography in differentiating benign neurofibroma from malignant peripheral nerve sheath tumor associated with neurofibromatosis 1Konstantina Karabatsou
Division of Neurosurgery, Toronto Western Hospital, University of Toronto, Toronto, Canada
Neurosurgery 65:A160-70. 2009..18FDG-PET/CT has the added advantage of fusing metabolic and anatomic imaging data sets...
- Somatostatinoma: collision with neurofibroma and ultrastructural featuresW Varikatt
Department of Anatomical Pathology, South Western Area Pathology Service, Sydney, Australia
Histol Histopathol 21:1171-80. 2006..somatostatinoma are described, one of which is a hitherto unreported example of a collision tumour with a neurofibroma. Ultrastructural morphometric immunoelectron microscopy studies revealed the presence of four types of cells in ..
- Different patterns of mast cells distinguish diffuse from encapsulated neurofibromas in patients with neurofibromatosis 1Tracy Tucker
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
J Histochem Cytochem 59:584-90. 2011..The differences in mast cell density and distribution differentiate the two basic types of NF1-associated neurofibromas, suggesting that the pathogenesis of diffuse and encapsulated neurofibromas may be significantly different...
- Neurofibroma of the larynx in neurofibromatosis: preoperative computed tomography and magnetic resonance imagingM Nakahira
Department of Otolaryngology, Kochi Medical School, Nankoku, Kochi 783 8505, Japan
Arch Otolaryngol Head Neck Surg 127:325-8. 2001..Few cross-sectional imaging studies have been performed in neurofibroma of the larynx...
- Periarticular diffuse neurofibroma of the upper limbRodica Trăistaru
Department of Physical Medicine and Rehabilitation, University of Medicine and Pharmacy of Craiova, Romania
Rom J Morphol Embryol 52:1377-83. 2011The diffuse neurofibroma is an uncommon subtype of neurofibroma that has received little attention in the imaging literature...
- Solitary neurofibroma of the nasal cavity: resection with endoscopic surgeryM Hirao
Ohfuna Central Hospital, Kanagawa, Japan
J Laryngol Otol 115:1012-4. 2001We present a case of neurofibroma of the nasal cavity treated by endoscopic surgery. A 71-year-old female had complained of left-sided nasal obstruction for the past four years...
- Solitary intrascrotal neurofibroma: a case diagnosed on aspiration cytologyShilpa Gupta
Department of Pathology, Hindu Rao Hospital, Delhi, India
Diagn Cytopathol 39:843-6. 2011Solitary neurofibroma of the scrotum is exceedingly rare and very few cases of this unusual occurrance have been reported till date. None of the previously reported cases had a preoperative cytologic diagnosis...
- Intravascular embolisation and surgical resection of a giant neurofibroma with intratumoural haemorrhageR G Jones
Department of Radiology, Queen Elizabeth Medical Centre, University Hospital Birmingham, Birmingham, UK
Br J Radiol 83:e225-9. 2010..This case report describes a 45-year-old male with a giant neurofibroma who underwent embolisation to stabilise intratumoural haemorrhage and to assist with haemostasis during the ..
- Intratumoral fat in neurofibromaSung Ku Ahn
Department of Dermatology, Yonsei University Wonju College of Medicine, Wonju, Korea
Am J Dermatopathol 24:326-9. 2002Three cases of a solitary neurofibroma showing focal fatty changes are reported. Fatty changes in a neurofibroma are rarely observed and have not been reported, and also, the pathogenesis of neurofibroma has not been clarified...
- Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burdenLaura Thomas
Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK
Neurogenetics 11:391-400. 2010..Somatic NF1 mutations were identified in 57 (64%) of neurofibroma samples. Each mutation was distinct demonstrating the independent origin of each tumor...
- Comparative ultrastructural and immunohistochemical study of perineurioma and neurofibroma of the oral mucosaFumio Ide
Department of Oral Pathology, Meikai University School of Dentistry, 1 1 Keyakidai, Sakado, Saitama 350 0283, Japan
Oral Oncol 40:948-53. 2004In the course of assessing the cellular composition of intraoral neurofibroma (NF), we encountered a unique gingival tumor of putative perineurial (PN) origin...
- Subclassification of nerve sheath tumors by gene expression profilingNikola Holtkamp
Institutes of Neuropathology, Charite, Humboldt University, Berlin, Germany
Brain Pathol 14:258-64. 2004..NF1-associated and sporadic MPNST could not be distinguished by their gene expression patterns. We present a panel of discriminating genes that may assist subclassification of nerve sheath tumors...
- Neurofibroma and schwannomaRosalie E Ferner
Department of Neuroimmunology, Division of Clinical Neurosciences, Guy s, King s and St Thomas School of Medicine, London, UK
Curr Opin Neurol 15:679-84. 2002..The aim of this review is to document recent advances in our understanding of the clinical characteristics and pathogenesis of neurofibromas and schwannomas in the neurofibromatoses...
- Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cellsAmy M Munchhof
Department of Pediatrics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 W Walnut Street, Indianapolis, IN 46202, USA
Hum Mol Genet 15:1858-69. 2006..This paradigm is relevant to understanding neurofibroma development in neurofibromatosis type I patients...
- The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromasMeena Upadhyaya
Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF144XN, UK
Neurogenetics 10:251-63. 2009..No evidence for LOH of the TP53 gene was found in these tumors...
- Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patientsThomas De Raedt
Center for Human Genetics, University Hospital Leuven, Catholic University of Leuven, Leuven, Belgium
Genes Chromosomes Cancer 45:893-904. 2006..We conclude that NF1 is a familial tumor syndrome in which the type of germline mutation influences the type of second hit in the tumors...
- Nf1+/- mast cells induce neurofibroma like phenotypes through secreted TGF-beta signalingFeng Chun Yang
Department of Pediatrics, and Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 W Walnut Street, Indianapolis, IN 46202, USA
Hum Mol Genet 15:2421-37. 2006..Genetic or pharmacological inhibition of c-abl reverses fibroblast proliferation and collagen synthesis to wild-type levels. These studies identify a novel molecular target to inhibit neurofibroma formation.
- Solitary sclerotic neurofibroma of the skinKeiko Nakashima
Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, Yonago shi, Tottori, Japan
Am J Dermatopathol 30:278-80. 2008Solitary neurofibroma of the skin is a benign soft tissue tumor. Clinically, it is a flesh-colored, slow-growing, soft tumor and sometimes shows diverse histological patterns...
- An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlationM Upadhyaya
Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK
Am J Hum Genet 80:140-51. 2007..The biological mechanism that relates this specific mutation to the suppression of cutaneous neurofibroma development is unknown.
- Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: a cohort study of 703 patientsKiarash Khosrotehrani
Department of Dermatology and Réseau NF Mondor, Hopital Henri Mondor, AP HP, Paris XII University, Creteil, France
Am J Med Genet A 132:49-53. 2005..Our study describes independent risk factors of mortality in a large cohort of adult and pediatric patients. Close follow-up should be obtained for patients presenting with subcutaneous neurofibromas...
- S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromasTracy Tucker
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
J Neurosci Res 89:1451-60. 2011..The S100B(+) /Nfn(-) cell population made up only 18% ± 10% (mean ± standard deviation) of the neurofibroma cells in both the diffuse and encapsulated neurofibromas...
- Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibromaL Kluwe
Department of Neurosurgery, University Hospital Eppendorf, Hamburg, Germany
Genes Chromosomes Cancer 24:283-5. 1999..In this study, we selectively cultured Schwann cells from an NF1-associated neurofibroma. Fibroblasts were also obtained by culturing the tumor cells under standard conditions...
- Tumorigenic properties of neurofibromin-deficient neurofibroma Schwann cellsD Muir
Divisions of Neurology and Genetics, The Department of Pediatrics, University of Florida Brain Institute and College of Medicine, Gainesville, Florida 32610, USA
Am J Pathol 158:501-13. 2001..Western blot analysis failed to detect full-length neurofibromin in any of the neurofibroma SC cultures, indicating that neurofibromin-deficient SCs had a substantial growth advantage...
- Solitary colonic neurofibroma in a patient with transient segmental colitis: case reportVasilios Panteris
Department of Gastroenterology, Tzaneion General Hospital, Zanni and Afentouli 1, Piraeus 18536, Greece
World J Gastroenterol 11:5573-6. 2005..Solitary neurofibromas of the colon are extremely rare. We describe a case of an isolated neurofibroma that was found in the large bowel of a patient who suffered from segmental colitis and presented with bloody ..
- Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutationsE Serra
, Hospital Duran i Reynals, Barcelona, Spain
Hum Genet 108:416-29. 2001..Finally, we have noticed that the culture of neurofibromas and their fibroblast clearance facilitates LOH detection in cases in which it is difficult to determine...
- Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formationB Bartelt-Kirbach
Institute of Human Genetics, University of Ulm, Ulm, Germany
Neurogenetics 10:79-85. 2009..Expression analysis of 13 genes of the microdeletion region in dermal neurofibromas and other tissues revealed four candidates for the modification of neurofibroma formation: CENTA2, RAB11FIP4, C17orf79, and UTP6.
- [Bladder neurofibroma: case report and bibliographic review]Pedro Manuel Cabrera Castillo
Servicio de Urologia, Hospital Universitario La Paz, Madrid, Espana
Arch Esp Urol 59:899-901. 2006..of the urinary tract; bladder neurofibromatosis may present as a diffuse infiltrative process or an isolated neurofibroma. Bladder neurofibromas arise from nervous ganglia of the bladder wall and stain positive for protein S-100 and ..
- Primary localised pleural neurofibroma: expanding the spectrum of spindle cell tumours of the pleuraG Langman
Department of Cellular Pathology, Heart of England NHS Foundation Trust, Birmingham, UK
J Clin Pathol 63:116-8. 2010..Primary localised pleural neoplasms are a rare group of thoracic tumours, with solitary fibrous tumour representing the most frequently encountered entity. Two cases of localised pleural neurofibromas involving the pleura are described...
- Cutaneous lipomatous neurofibromaJ Fernando Val-Bernal
Department of Anatomical Pathology, Marques de Valdecilla University Hospital, Medical Faculty, University of Cantabria, Santander, Spain
Am J Dermatopathol 24:246-50. 2002We report a cutaneous lipomatous neurofibroma on the skin of the left-side parietal area of approximately 9 months' duration in a 67-year-old woman...
- The neurofibroma cell of origin: SKPs expand the playing fieldZachary S Morris
Massachusetts General Hospital Center for Cancer Research and Department of Pathology, Harvard Medical School, Charlestown, MA 02129, USA
Cell Stem Cell 4:371-2. 2009..In this issue of Cell Stem Cell, Le et al. (2009) demonstrate that skin-derived precursors (SKPs) can initiate dermal neurofibromas and highlight the importance of the microenvironment in the formation of this complex tumor...
- CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindredF Petronzelli
Istituto di Genetica Medica, , , Largo Francesco Vito 1, 00168 Rome, Italy
Genes Chromosomes Cancer 31:398-401. 2001..The development of neurofibromas can be explained by cooperative effects of combined inactivation of p16(ink4) and p14(arf) or, alternatively, of p14(arf) alone...
- Immunohistochemical staining for calretinin is useful for differentiating schwannomas from neurofibromasSamson W Fine
Department of Pathology, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, NY 10467, USA
Am J Clin Pathol 122:552-9. 2004We studied 25 cases of schwannoma and 42 cases of neurofibroma immunohistochemically with antibodies to calretinin and S-100 protein to explore the potential usefulness of calretinin in differentiating schwannomas from neurofibromas...
- Neurofibroma of the breast in a boy with neurofibromatosis type 1Ayse Murat
Department of Radiology, Firat University Medical Center, 23119 Elazig, Turkey
Clin Imaging 28:415-7. 2004..Excisional biopsy was applied to the mass. The diagnosis of gynecomastia and neurofibroma was made on the basis of histopathological and immunohistochemical findings.
- Nonlymphoid mesenchymal tumors of the parotid glandAdemar Takahama
Department of Oral Diagnosis, Piracicaba Dental School, State University of Campinas, Avenida Limeira 901, CP 52 Areião Piracicaba SP, CEP 13414 903, Brazil
Oral Oncol 44:970-4. 2008..16% (19 cases; 15 benign and 4 malignant). All cases were treated by surgery with no recurrences, except one case of fibrosarcoma whose patient died of distant metastasis...
- Periungual myxoid neurofibromaRobyn F Gmyrek
Department of Dermatology, Columbia Presbyterian Medical Center, New York, New York, USA
Cutis 69:54-6. 2002..The tumor was excised and was histologically determined to be a myxoid neurofibroma. We report this case because of the rarity of both the tumor and its periungual location and to provide a ..
- Hybrid peripheral nerve sheath tumors: Schwannoma-perineurioma and neurofibroma-perineurioma. A report of three cases in extradigital locationsDmitry V Kazakov
Sikl s Department of Pathology, Charles University, Medical Faculty Hospital, 30460 Pilsen, Czech Republic
Ann Diagn Pathol 9:16-23. 2005We present three cases of subcutaneous tumors with hybrid features of schwannoma-perineurioma (one case) and neurofibroma-perineurioma (two cases), which occurred in two women aged 50 and 52 years and one man aged 52...
- A case of solitary neurofibroma of the nasal dorsum: resection using an external rhinoplasty approachJoo Hwan Lee
Department of Otorhinolaryngology, Yongdong Severance Hospital and Airway Mucus Institute of Yonsei University College of Medicine, Youngdong, P O Box 1217, Seoul, Republic of Korea
Eur Arch Otorhinolaryngol 262:813-5. 2005..The mass was resected using an external rhinoplasty approach, and the pathologic diagnosis was of neurofibroma. Furthermore, the nasal dorsum was identified as the origin of the neurofibroma without the stigma of ..
- Solitary neurofibroma of the palatine tonsil: a case reportKumar Madhumita
Department of ENT, Amrita Institute of Medical Sciences and Research Centre, Elamakkara, Kochi, India
Ear Nose Throat J 86:756-8. 2007..Although some sporadic cases of tonsillar schwannoma have been reported, to the best of our knowledge this is only the second case of a solitary neurofibroma of the palatine tonsil to be reported in the English-language literature.
- Solitary intraosseous neurofibroma of mandibleN Vivek
Department of Oral and Maxillofacial Surgery, Meenakshi Ammal Dental College and Hospital, Chennai
Indian J Dent Res 17:135-8. 2006Solitary intraosseous neurofibroma is a rare benign non-odontogenic tumor...
- Biallelic somatic inactivation of the NF1 gene through chromosomal translocations in a sporadic neurofibromaClelia Tiziana Storlazzi
Department of Genetics and Microbiology, University of Bari, Bari, Italy
Int J Cancer 117:1055-7. 2005b>Neurofibroma is a benign tumor originating from Schwann cells in peripheral nerve sheaths and may occur as a sporadic tumor or as part of the dominantly inherited tumor syndrome NF1...
- Solitary neurofibroma of the maxillary sinus and pterygopalatine fossaCarsten Christof Boedeker
Department of Otorhinolaryngology Head and Neck Surgery, University of Freiburg, Germany
Otolaryngol Head Neck Surg 133:458-9. 2005
- Intraosseous nerve sheath tumors in the jawsZhongmin Che
Department of Oral and Maxillofacial Surgery, College of Dentistry, Yonsei University, Seoul, Korea
Yonsei Med J 47:264-70. 2006..b>Neurofibroma is one of the most common nerve sheath tumors occurring in the soft tissue and generally appears in ..
- Long-term culture and characterization of human neurofibroma-derived Schwann cellsT Rosenbaum
Department of Neuropediatrics, Heinrich Heine University, Dusseldorf, Germany
J Neurosci Res 61:524-32. 2000..To characterize the biological properties of neurofibroma-derived Schwann cells we developed cell culture techniques that enabled us to isolate Schwann cells from ..
- Lumbar myxopapillary ependymoma mimicking neurofibromaM Bavbek
Baskent University Faculty of Medicine, Ankara, Turkey
Spinal Cord 39:449-52. 2001..a case of lumbar myxopapillary ependymoma in whom neuroradiological and surgical findings strongly suggested neurofibroma. CLINICAL PRESENTATION: The patient presented with a 2 year history of progressive monoparesthesia and ..
- Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromasE Serra
Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, Autovia de Castelldefels Km 2.7 08907 L'Hospitalet de Llobregat, Barcelona, Spain
Nat Genet 28:294-6. 2001Pure populations of neurofibroma-derived Schwann cells bearing both NF1 mutated alleles (NF1-/-) have been isolated from different neurofibromas showing loss of heterozygosity of nearly the entire 17q chromosome...
- A solitary huge neurofibroma of the soft palateR Sinha
Department of Otolaryngology, BSMedical College and Hospital, Bankura, West Bengal, India
J Laryngol Otol 116:637-8. 2002b>Neurofibroma of the soft palate, an extremely rare tumour, is probably not yet reported in the literature...
- Neurofibromatosis type 1: a clinicopathological study of the orofacial manifestations in 6 pediatric patientsR Sigillo
Pedodontics Graduate Program, Central University of Venezuela, Caracas, Venezuela
Pediatr Dent 24:575-80. 2002..Knowledge of the variability of presentation of orofacial soft tissue and bone manifestations of NF1 in children is necessary for prompt diagnosis...
- [Neurofibroma with mucus-producing glands. Report of a case and literature review]T Cuesta
Servicio de Anatomia Patologica, Hospital Clinico Quirurgico Hermanos Ameijeiras, La Habana, Cuba
Rev Neurol 28:245-7. 1999..Most tumors of peripheral nerve sheaths containing glands are malignant tumors associated with Von Recklinghausen's disease...
- Diffuse neurofibroma on the lower backE J van Zuuren
Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands
J Am Acad Dermatol 48:938-40. 2003Diffuse neurofibroma is an uncommon form of neurofibroma, which occurs principally in children and young adults. This tumor presents most often in the head and neck region...
- Intraneural dendritic cell neurofibroma with pseudorosettesDmitry V Kazakov
Sikl s Department of Pathology, Charles University, Medical Faculty Hospital, Pilsen, Czech Republic
Am J Dermatopathol 26:72-5. 2004Dendritic cell neurofibroma with pseudorosettes (DCNWPR) is a recently proposed variant of neurofibroma...
- Laparoscopic-assisted resection of a large retroperitoneal tumorSamir Johna
Loma Linda University School of Medicine, Fontana, California, USA
JSLS 8:287-9. 2004..The feasibility of the technique was tested in the removal of a large retroperitoneal neurofibroma.
- Solitary neurofibroma of the oral mucosa: a previously undescribed variant of neurofibromaTetsuo Shimoyama
Department of Oral Surgery, Saitama Medical Center, Saitama Medical School, Kawagoe, Japan
J Oral Sci 44:59-63. 2002We report a distinct morphologic type of neurofibroma, lipomatous neurofibroma, arising in the oral mucosa, which has not been described previously in the literature...
- Floretlike multinucleated giant cells in a neurofibroma from a patient with NF1: an unusual finding for such a tumorGaetano Magro
Virchows Arch 441:525-6. 2002
- Losses in chromosomes 17, 19, and 22q in neurofibromatosis type 1 and sporadic neurofibromas: a comparative genomic hybridization analysisTakamasa Koga
Department of Pathology, School of Medicine, Fukuoka University, 7 45 1 Nanakuma, Jonan ku, Fukuoka 814 0180, Japan
Cancer Genet Cytogenet 136:113-20. 2002..2 in nine cases). In addition, both NF1-associated and sporadic neurofibromas often exhibited losses at chromosome arms 19q and 22q (in NF1 tumors, the minimal common regions were 19q13.2-->qter in seven cases)...
- Neurofibroma of the lacrimal sacMandeep S Bajaj
Oculoplastic and Paediatric Ophthalmology Services, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India
Orbit 21:205-8. 2002b>Neurofibroma is an extremely rare neural tumor of the lacrimal sac. We present a case of neurofibroma of the lacrimal sac in a 45-year-old lady...
- Endoscopic computer-enhanced mediastinal mass resection using robotic technologyJeffrey A Morgan
Division of Cardiothoracic Surgery, College of Physicians and Surgeons, Columbia University, New York, New York, USA
Heart Surg Forum 6:E164-6. 2003..This report describes t h e use of robotic technology for resection of mediastinal masses...
- Presacral solitary giant neurofibroma without neurofibromatosis type 1 presenting as pelvic mass--case reportC Topsakal
Department of Neurosurgery, Firat University School of Medicine, Elazig, Turkey
Neurol Med Chir (Tokyo) 41:620-5. 2001A 35-year-old woman presented with a solitary neurofibroma in an unusual presacral location without neurofibromatosis manifesting as bilateral chronic sciatica for 2 years...
- The angiogenic factor midkine is aberrantly expressed in NF1-deficient Schwann cells and is a mitogen for neurofibroma-derived cellsG A Mashour
Vincent T Lombardi Cancer Center, Department of Neurosurgery, Georgetown University School of Medicine, 3970 Reservoir Road NW, Washington DC 20007, USA
Oncogene 20:97-105. 2001..agar colony formation of human MPNST derived S100 positive cells and fibroblastoid cells derived from an NF1 neurofibroma. The data support a possible central role for MK as a mediator of angiogenesis and neurofibroma growth in NF1...
- Phenotyping & genotype-phenotype correlations in NF1Bruce Korf; Fiscal Year: 2006..We will test whether the nature of the NF1 mutation differs in individuals in the top and bottom 10% for neurofibroma number...
- The Roles of Tumor Microenvironment in Neurofibroma Development and TherapeuticsLu Le; Fiscal Year: 2013..neural stem cells residing in the dermis termed skin-derived precursors (SKPs) as the cell of origin of dermal neurofibroma and generated the first mouse model for this complex cutaneous tumor...
- The role of mTORC1 in the development and therapeutic targeting of NF1-associatedYuan Zhu; Fiscal Year: 2013..One neurofibroma subtype, plexiform neurofibroma, can arise in functionally critical nerves and diffusely infiltrate through the ..
- Characterizing the role of specific Ras proteins in neurofibroma and MPNST formatPreeti Tandon; Fiscal Year: 2013..Nf1-/- Schwann cells secrete Kit Ligand, which stimulates mast cell migration and thus contributes to neurofibroma pathogenesis...
- NF Center: from animal models to therapeuticsLuis F Parada; Fiscal Year: 2013..Nf1-/- Schwann cells and different heterozygous cell lineages identified in the tumor microenvironment in neurofibroma development and targeting these cell-cell interactions with FDA-approved therapeutics...
- MITOGENIC ACTIVITIES IN NEUROFIBROMATOSISNancy Ratner; Fiscal Year: 2013..We developed mouse model systems for neurofibroma formation in NF1, and also performed large scale gene expression array analyses to identify candidate genes ..
- GROWTH AND DIFFERENTIATION OF HUMAN MAST CELLSROBERT BRESSLER; Fiscal Year: 1993..for characteristics of mast cells 2) to determine whether normal skin fibroblasts, fibroblasts from SM skin or neurofibroma tissue, both of which contain increased numbers of mast cells, or Schwann cells stimulate human mast cell ..
- The role of Pak1 in regulating plexiform neurofibroma formationAndrew McDaniel; Fiscal Year: 2009..in molecular pathways responsible for specific cellular and biochemical phenotypes associated with plexiform neurofibroma formation resulting from the genetic disorder Neurofibromatosis Type I (NF1)...
- NF-1 GENE EXPRESSION IN HUMAN SCHWANN CELL FUNCTIONJ Rutkowski; Fiscal Year: 1999..Identifying differences in biological properties and neurofibromin expression between normal and neurofibroma Schwann cells may provide impact on the development of future improved treatment strategies for neurofibromas ..
- In vitro studies of steroid receptors in NF1Lauren Fishbein; Fiscal Year: 2006..These studies will characterize the role of hormones in neurofibroma development, allowing for more educated medical decisions, as well as identifying potential targets for ..
- NEUREGULINS AND THE PATHOLOGY OF NERVE INJURYSteven Carroll; Fiscal Year: 2002....
- Role of Neuregulin-1 in Schwann Cell NeoplasiaSteven Carroll; Fiscal Year: 2008..These studies will provide important insights into the mechanisms promoting MPNST formation and establish the NRG-1/erbB signaling pathway as a novel therapeutic target in MPNSTs. [unreadable] [unreadable]..
- FUNCTION OF MIDKINE IN NEUROFIBROMATOSISAndreas Kurtz; Fiscal Year: 2002..one of these factors, midkine (MK), stimulates proliferation of systemic and brain endothelial cells and of neurofibroma derived cells...
- High definition in vivo footprinting via single molecule sequencingMichael Dorschner; Fiscal Year: 2009....
- Large-scale analysis of human genetic variation via Multiplex Barcode SequencingMichael Dorschner; Fiscal Year: 2007..Additionally, it will be applicable to both genomic DNA templates, and to cDNA enabling simultaneous sampling of genetic variation and gene expression. [unreadable] [unreadable] [unreadable]..
- Animal Model of Transmissable NeurofibromasMICHAEL SCHMALE; Fiscal Year: 2006..The proposed studies should yield information on mechanisms of tumor development in the peripheral nervous system applicable to understanding these processes in human disorders such as neurofibromatosis type 1. ..
- CHILDRENS NATIONAL MEDICAL CENTERRoger Packer; Fiscal Year: 2003....
- Uptake and Processing of Foreign DNA by Mitochondria, a Model SystemMICHAEL SCHMALE; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- Pirfenidone in Children with PNs in NF1Roger Packer; Fiscal Year: 2006..Abstract Not Provided ..
- ENZYMATIC DE-INHIBITION OF AXONAL REGENERATIONDavid Muir; Fiscal Year: 2003..The main goal of this project is to prove that application of CSPG-degrading enzymes within injured tissues is an effective therapy to improve axonal regrowth and recovery of function throughout the nervous system. ..
- Spinal abnormalities in neurofibomatosis type 1David H Viskochil; Fiscal Year: 2010..This proposal will identify variables in patients with NF1 as prognostic factors for dystrophic scoliosis to improve clinical management. ..
- TRANCRIPTION-COUPLED DNA REPAIR AND GENETIC INSTABILITYGan Wang; Fiscal Year: 2004....
- PEPTIDE NUCLEIC ACIDS (PNA)-MEDIATED GENE EXPRESSIONGan Wang; Fiscal Year: 2003..To investigate parameters that affect PNA delivery efficiency and intracellular PNA binding. To explore the possibility of PNA binding-induced endogenous human gene expression. ..
- CONFERENCE--AQUATIC ANIMAL MODELS OF HUMAN DISEASEMICHAEL SCHMALE; Fiscal Year: 2003..The investigators strongly believe the forum provided by this type of interdisciplinary meeting is unique and is critical to the advancement of these diverse model systems as useful resources for the biomedical research community. ..