Genomes and Genes
Summary: A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)
Publications205 found, 100 shown here
- Recent advances in neurofibromatosis type 1Deepa Arun
Department of Neurology, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri, USA
Curr Opin Neurol 17:101-5. 2004..The purpose of this review is to highlight recent advances in defining the molecular etiology of nervous system tumors and learning disabilities...
- Plexiform neurofibroma of the submandibular salivary gland in a childJ M Bourgeois
McMaster University, Hamilton, Canada
Can J Gastroenterol 15:835-7. 2001..Resection of the lesion revealed a plexiform neurofibroma involving the submandibular gland...
- A case of isolated giant plexiform neurofibroma involving all branches of the common peroneal nerveOguz Cebesoy
Orthopedic and Traumatology Department, Gaziantep University Faculty of Medicine, 27060 Gaziantep, Turkey
Arch Orthop Trauma Surg 127:709-12. 2007b>Plexiform neurofibroma is generally considered as a component of neurofibromatosis 1, and a great majority of the cases with plexiform neurofibroma display other symptoms related to neurofibromatosis...
- Imatinib mesylate (Glivec) inhibits Schwann cell viability and reduces the size of human plexiform neurofibroma in a xenograft modelMaria Demestre
Department of Maxillofacial Surgery, University Medical Centre Hamburg Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany
J Neurooncol 98:11-9. 2010..001). We demonstrated that grafting human PNF tumour fragments into nude mice provides an adequate in vivo model for drug testing. Our results provide in vivo and in vitro evidence for efficacy of imatinib mesylate for PNF...
- Solitary plexiform neurofibroma(s): role of magnetic resonance imagingVirendra N Sehgal
Dermato Venereology Skin VD Centre, Sehgal Nursing Home, A 6 Panchwati, Azadpur, Delhi 110 033, India
Skinmed 6:99-100. 2007..Based on the MRI findings, a diagnosis of superficial plexiform neurofibroma was considered...
- Phase I study of thalidomide for the treatment of plexiform neurofibroma in neurofibromatosis 1A Gupta
Department of Neurology, Cleveland Clinic Foundation, OH 44195, USA
Neurology 60:130-2. 2003..phase I trial of thalidomide (TL) in 20 patients with neurofibromatosis 1 (NF1) treated symptomatic plexiform neurofibroma (PNF). TL was well tolerated in doses up to 200 mg/d...
- Oral plexiform neurofibroma not associated with neurofibromatosis type I: case reportLuciana S Marocchio
Department of Stomatology, Area of Pathology, Bauru School of Dentistry, University of Sao Paulo, Brazil
J Oral Sci 48:157-60. 2006An unusual case of isolated plexiform neurofibroma arising in the oral cavity without other clinical manifestations or family history of neuro-fibromatosis-1 (NF-1) is described...
- Management of advanced laryngeal and hypopharyngeal plexiform neurofibroma in adultsSandeep P Dave
Department of Otolaryngology Head and Neck Surgery, Jackson Memorial Medical Center and Sylvester Comprehensive Cancer Center, Miami, FL 33136, USA
Am J Otolaryngol 29:279-83. 2008..Because it is unencapsulated and more aggressive, plexiform neurofibroma presents a management dilemma...
- Plexiform neurofibromasB R Korf
Division of Genetics, Department of Neurology, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Med Genet 89:31-7. 1999..but research into the molecular pathogenesis of NF1, as well as advances in tumor therapy in general, are opening the way towards clinical trials for plexiform neurofibroma. Am. J. Med. Genet. (Semin. Med. Genet.) 89:31-37, 1999.
- The role of [18F]-fluorodeoxyglucose positron emission tomography in predicting plexiform neurofibroma progressionMichael J Fisher
Division of Oncology, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
J Neurooncol 87:165-71. 2008..We hypothesized that PN tumors with high metabolic activity as demonstrated by FDG-PET are more likely to progress in the following year...
- Massive plexiform neurofibroma with associated meningo-encephalocoele and occipital bone defect presenting as a cervical massA Renshaw
Department of Plastic and Reconstructive Surgery, Frenchay Hospital, Frenchay, Bristol BS16 1LE, UK
Br J Plast Surg 56:514-7. 2003..We report a rare case of a 54-year-old lady with a massive plexiform neurofibroma extending from the auricular region down her left neck and into her shoulder, with an associated large ..
- Elevated ankyrin G in a plexiform neurofibroma and neuromas associated with painThomas Kretschmer
Neurochirurgische Klinik, Universitat Ulm, Gunzburg, Germany
J Clin Neurosci 11:886-9. 2004..Ankyrin G, a transmembrane, structural protein of the axon, was examined in four conditions: (a) painful plexiform neurofibroma; (b) painful neuroma; (c) non-painful neuromas; (d) normal nerve...
- Plexiform neurofibroma of the tongue: a case report of a childEnis Alpin Guneri
Department of Oto Rhino Laryngology, Head and Neck Surgery, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
Turk J Pediatr 48:155-8. 2006A three-year-old girl with a lingual plexiform neurofibroma treated by total excision is presented. Despite their occurrence in the head and neck region, neural sheath tumors are rarely encountered in the oral cavity...
- Is a plexiform neurofibroma pathognomonic of neurofibromatosis type I?Vincent Lin
Department of Otolaryngology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Laryngoscope 114:1410-4. 2004Several prominent textbooks have claimed that a plexiform neurofibroma is pathognomonic for neurofibromatosis type I...
- NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weightE Dombi
Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD 20892, USA
Neurology 68:643-7. 2007To longitudinally analyze changes in plexiform neurofibroma (PN) volume in relation to age and body growth in children and young adults with neurofibromatosis type 1 and inoperable, symptomatic, or progressive PNs, using a sensitive, ..
- Mesenteric plexiform neurofibroma in an 11-year-old boy with von Recklinghausen diseaseJinYoung Park
Department of Pediatric Surgery, School of Medicine, Kyungpook National University, Taegu 700 721, Korea
J Pediatr Surg 42:E15-8. 2007..Histopathologic study revealed a plexiform neurofibroma involving the mesentery and intestine without evidence of malignant transformation...
- Plexiform neurofibroma of the uterine cervix: a case report and review of the literatureEric X Wei
Department of Pathology, Louisiana State University Health Sciences Center, Shreveport 71130, USA
Arch Pathol Lab Med 129:783-6. 2005..We describe a case of plexiform neurofibroma affecting the uterine cervix in a patient with chronic pelvic pain and menorrhagia who had multiple ..
- CT features of plexiform neurofibroma of the submandibular glandM Aribandi
Department of Radiology, Geisinger Medical Center, Danville, PA 17822, USA
AJNR Am J Neuroradiol 27:126-8. 2006b>Plexiform neurofibroma of the submandibular gland is an extremely rare tumor. We report the CT findings in a 6-year-old girl with type 1 neurofibromatosis who had a histopathologically proven submandibular gland plexiform neurofibroma...
- Diffuse, retroperitoneal mesenteric and intrahepatic periportal plexiform neurofibroma in a 5-year-old boyL Z Fenton
Department of Radiology, The Children s Hospital, 1056 East 19th Avenue, B125, Denver, CO 80128, USA
Pediatr Radiol 31:637-9. 2001We present a case of plexiform neurofibroma involving the retroperitoneum, mesentery, and liver in a 5-year-old boy who underwent evaluation for extent of a palpable left neck mass...
- CO2-laser in the removal of a plexiform neurofibroma from the eyelidR Lapid-Gortzak
Department of Ophthalmology, Soroka University Medical Center, Ben Gurion University of the Negev, Beer Sheva, Israel
Ophthalmic Surg Lasers 31:432-4. 2000..Using the CO2-laser achieves better cosmesis, while reducing operation time and limiting complications...
- Plexiform neurofibroma of the cheek mucosa. A case reportGuillermo Gómez-Oliveira
Servicio de Cirugía Macilofacial, CHU Juan Canalejo, La Coruna, Spain
Med Oral 9:263-7. 2004The case reported deals with a solitary plexiform neurofibroma affecting the cheek submucosa. Neurofibroma is an uncommon tumor which rarely appears in oral cavity but it represents the most common neurogenic tumor...
- Prevalence of plexiform neurofibroma in children and adolescents with type I neurofibromatosisLuiz G Darrigo Jr
Universidade de Sao Paulo USP, Sao Paulo, SP, Brazil
J Pediatr (Rio J) 83:571-3. 2007To assess prevalence of plexiform neurofibroma in children and adolescents with type I neurofibromatosis and its malignant potential.
- Plexiform neurofibroma genesis: questions of Nf1 gene dose and hyperactive mast cellsKarl Staser
Department of Biochemistry, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
Curr Opin Hematol 17:287-93. 2010..Recent mouse and human studies indicate that mast cells underpin inflammation in the plexiform neurofibroma microenvironment of neurofibromatosis type 1...
- Best cases from the AFIP: plexiform neurofibroma of the bladderLana M Wilkinson
Department of Medical Imaging, Hospital for Sick Children, Toronto, Ontario, Canada
Radiographics 24:S237-42. 2004
- Repair of the lower and middle parts of the face by composite tissue allotransplantation in a patient with massive plexiform neurofibroma: a 1-year follow-up studyLaurent Lantieri
Universite Paris 12, Faculte de Medecine, IFR10, Creteil, France
Lancet 372:639-45. 2008..We report here a 1-year follow-up of a patient who underwent face transplantation with a composite tissue allograft...
- Evaluation of plexiform neurofibroma in neurofibromatosis type 1 in 18 family members of 3 generations: ultrasonography and magnetic resonance imaging a diagnostic supplementVirendra N Sehgal
Dermato Venereology Skin VD Centre, Sehgal Nursing Home, Panchwati, Delhi, India
Int J Dermatol 48:275-9. 2009Abstract Plexiform neurofibroma in neurofibromatosis type 1, an autosomal-dominant genetic disorder, is characterized by a combination of interlacing components or a network...
- Management issues in massive pediatric facial plexiform neurofibroma with neurofibromatosis type 1Jeffrey B Wise
Department of Otorhinolaryngology Head and Neck Surgery, University of Pennsylvania Health System, Philadelphia, PA, USA
Head Neck 24:207-11. 2002b>Plexiform neurofibroma is a relatively common but potentially devastating manifestation of neurofibromatosis type 1 (NF1)...
- Clinical relevance of positron emission tomography and magnetic resonance imaging in the progression of internal plexiform neurofibroma in NF1V F Mautner
Section of Phacomatoses, Maxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Germany
Anticancer Res 27:1819-22. 2007..MPNST frequently arise from a previously undetected plexiform neurofibroma (PNF)...
- Molecular profiles of neurofibromatosis type 1-associated plexiform neurofibromas: identification of a gene expression signature of poor prognosisPascale Lévy
Laboratoire de Génétique Moléculaire UPRES EA 3618, Faculte des Sciences Pharmaceutiques et Biologiques, Universite Paris V, Paris
Clin Cancer Res 10:3763-71. 2004..NF1 patients with plexiform neurofibromas are at risk of developing malignant peripheral nerve sheath tumors...
- Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromasAnja Overdiek
Department of Maxillofacial and Facial Plastic Surgery, Marienhospital, Friedrich Ebert Allee 100, D 52066 Aachen, Germany
Brain Dev 28:275-80. 2006..However, despite other typical NF1-associated features (e.g. multiple café-au-lait spots) diagnosis of a plexiform neurofibroma as underlying cause for the hemifacial hypertrophy was significantly delayed in all patients...
- [18F]2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) as a diagnostic tool for neurofibromatosis 1 (NF1) associated malignant peripheral nerve sheath tumours (MPNSTs): a long-term clinical studyR E Ferner
Department of Neurology, Guy s and St Thomas NHS Foundation Trust, Kings College London, London, UK
Ann Oncol 19:390-4. 2008....
- Phase I trial of pirfenidone in children with neurofibromatosis 1 and plexiform neurofibromasDusica Babovic-Vuksanovic
Department of Medical Genetics, Mayo College of Medicine, Rochester, MN, USA
Pediatr Neurol 36:293-300. 2007..The second dose level was the pharmacokinetically comparable dose and is being used in an ongoing phase II trial of pirfenidone for children with neurofibromatosis 1 and progressive plexiform neurofibroma.
- Facial plexiform neurofibroma in a child with neurofibromatosis type I: a case reportK Patil
Department of Oral Medicine and Radiology, J S S Dental College and Hospital, S S Nagar, Mysore 15, India
J Indian Soc Pedod Prev Dent 25:30-5. 2007b>Plexiform neurofibroma is a non-circumscribed, thick and irregular benign tumor of the peripheral nerve sheath. It is a virtually pathognomonic and often disabling feature of neurofibromatosis type I...
- [Paraesophageal mass in the posterior mediastinum]P Cattan
Service de Chirurgie Generale, digestive et endocrinienne, Hôpital Saint Louis Paris
J Chir (Paris) 143:389-95. 2006
- Plexiform neurofibroma of the neckO Kilickesmez
Department of Radiology, Istanbul Social Security Hospital, Istanbul, Turkey
JBR-BTR 87:142-3. 2004
- Anti-vimentin antibodies and neuron-specific enolase in children with neurofibromatosis type-1Karel Kotaska
Department of Clinical Biochemistry and Pathobiochemistry, University Hospital Motol, 2nd Medical Faculty, Charles University, Prague, Czech Republic
Neuro Endocrinol Lett 28:761-4. 2007..to investigate the relationship of serum levels of neuron-specific enolase, anti-vimentin IgG, and anti-vimentin IgM antibodies in patients with neurofibromatosis type 1 and associated tumors (optic glioma, and plexiform neurofibroma).
- Automated detection and volume measurement of plexiform neurofibromas in neurofibromatosis 1 using magnetic resonance imagingJeffrey Solomon
Sensor Systems, Inc, 103A Carpenter Drive, Sterling, Virginia 20864, USA
Comput Med Imaging Graph 28:257-65. 2004..This automated method was reproducible (coefficient of variation 0.6-5.6%), yielded similar results to manual tumor tracings (R = 0.999) and will likely improve the ability to measure PNs in ongoing clinical trials...
- Plexiform neurofibromatosisVijay Gandhi
Department of Dermatology and STD, UCMS and GTB Hospital, Delhi, India
Indian Pediatr 41:624. 2004
- [Monstrous, malignant degenerating neurofibroma of the lower leg in Recklinghausen disease]Victor F Mautner
Dtsch Med Wochenschr 129:1526. 2004
- Cervical cord compression from plexiform neurofibromas in neurofibromatosis 1J R Leonard
Department of Neurosurgery, St Louis Children s Hospital and Washington University School of Medicine, St Louis, Missouri, USA
J Neurol Neurosurg Psychiatry 78:1404-6. 2007..The majority of patients had recovery of neurological function and no further clinical progression. Progressive neurological deficit (typically quadriparesis), rather than neuroimaging appearances, should dictate the need for surgery...
- Superficial neurofibroma: a lesion with unique MRI characteristics in patients with neurofibromatosis type 1Ruth Lim
Department of Radiology, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02150, USA
AJR Am J Roentgenol 184:962-8. 2005..Our aim was to test the hypothesis that in neurofibromatosis type 1 (NF1), superficial plexiform neurofibromas have different MRI characteristics than deep plexiform neurofibromas...
- Radiofrequency in the treatment of craniofacial plexiform neurofibromatosis: a pilot studyBertr Baujat
Department of Head and Neck Surgery, Hopital Foch, Suresnes, France
Plast Reconstr Surg 117:1261-8. 2006..The medical treatment of this disease is disappointing, and the surgical management of these deformities calls for aggressive procedures. There is a strong risk of recurrence...
- Phase I trial and pharmacokinetic study of the farnesyltransferase inhibitor tipifarnib in children with refractory solid tumors or neurofibromatosis type I and plexiform neurofibromasBrigitte C Widemann
Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD 20892, USA
J Clin Oncol 24:507-16. 2006....
- Intestinal mesenteric involvement with plexiform neurofibroma in neurofibromatosis type 1Mustafa Imamoglu
Department of Pediatric Surgery, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey
Pediatr Int 48:337-9. 2006
- Single stage near total resection of massive pediatric head and neck plexiform neurofibromasEvan R Ransom
Department of Otolaryngology, Head and Neck Surgery, Columbia University, 180 Fort Washington, HP813, New York, NY 10032, USA
Int J Pediatr Otorhinolaryngol 70:1055-61. 2006..We describe our experience with early aggressive surgical intervention in such patients in order to avert these problems...
- A systematic multiple stage surgical approach for attainment of satisfactory and favourable surgical results in an extremely severe von Recklinghausen's disease, elephantiasis neurofibromatosaSatoru Nagata
Department of Reconstructive Plastic Surgery, 1 7 3 Soya, Ichikawa City, Chiba Prefecture 272 0863, Japan
J Plast Reconstr Aesthet Surg 59:662-74. 2006..The systematic multiple stage surgical approach for an extremely severe von Recklinghausen's disease, elephantiasis neurofibromatosa is presented and discussed in detail...
- A novel approach to the management of severe facial disfigurement in neurofibromatosis type 1Karen E Madill
Manchester Royal Eye Hospital, Manchester, United Kingdom
Ophthal Plast Reconstr Surg 23:227-8. 2007..type 1 underwent subtotal anterior exenteration of a blind, unsightly, buphthalmic eye and orbital/eyelid plexiform neurofibroma. Simultaneously, a channeled Medpor orbital implant was positioned to reduce a meningoencephalocele ..
- Management of head and neck plexiform neurofibromas in pediatric patients with neurofibromatosis type 1Jeffrey B Wise
Department of Surgery, Division of Otolaryngology Head and Neck Surgery, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, 19104, USA
Arch Otolaryngol Head Neck Surg 131:712-8. 2005....
- Association between benign and malignant peripheral nerve sheath tumors in NF1T Tucker
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Neurology 65:205-11. 2005..The authors conducted a study to determine whether people with NF1 who have benign neurofibromas of various kinds are at greater risk of developing MPNSTs than patients with NF1 who lack these benign tumors...
- [Unilateral facial and cerebral hyperplasia associated with neurofibromatosis type 1. Report of four patients]I Pascual-Castroviejo
Servicio de Neurología Pediátrica, Hospital Universitario La Paz, 28046 Madrid, Espana
Rev Neurol 43:346-52. 2006b>Plexiform neurofibroma in any location is one of the commonest complications associated with neurofibromatosis type 1 (NF1)...
- Plexiform neurofibroma of the oesophagus: a mimicker of malignancyA Ganeshan
John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU, UK
Br J Radiol 78:1095-7. 2005We report the first case of a plexiform neurofibroma of the oesophagus, presenting with dysphagia in a 67-year-old man known to suffer from von Recklinghausen's neurofibromatosis...
- Plexiform neurofibroma of the larynx in a childEmre A Yucel
Department of Otolaryngology, Istanbul University, Faculty of Medicine, Istanbul, Turkey
J Laryngol Otol 116:49-51. 2002A case of a female child of six years of age with a plexiform neurofibroma of the larynx caused by von Recklinghausen's disease is presented...
- Congenital glaucoma and neurofibromatosis in a monozygotic twin: case report and review of the literatureMary S Payne
Department of Neurology, Children s Hospital, New Orleans, Louisiana 70118, USA
J Child Neurol 18:504-8. 2003..of neurofibromatosis 1 a magnetic resonance image of the neural axis was obtained, which revealed a plexiform neurofibroma with spinal cord impingement...
- Therapy for plexiform neurofibromas in children with neurofibromatosis 1: an overviewRoger J Packer
Department of Neurology and Pediatrics, Center for Neuroscience and Behavioral Medicine, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
J Child Neurol 17:638-41; discussion 646-51. 2002..The use of innovative neuroimaging techniques and other outcome measures may greatly improve the design of trials and evaluation of potential effective agents...
- Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1E Ars
Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, Avia Castelldefels, Km 2 7, L Hospitalet de Llobregat, 08907 Barcelona, Spain
Hum Mol Genet 9:237-47. 2000..It is possible that part of the clinical variability in NF1 could be due to mutations affecting mRNA splicing, which is the most common molecular defect in NF1...
- Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patientsE Ars
Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Barcelona, Spain
J Med Genet 40:e82. 2003
- Large recurrent plexiform neurofibroma of the foot and ankleLee L Q Pu
Division of Plastic Surgery, University of Kentucky College of Medicine, Lexington, Kentucky, USA
Microsurgery 24:67-71. 2004b>Plexiform neurofibroma often causes significant pain, deformity, and functional problems in the affected part of the body...
- Interobserver reproducibility of volumetric MR imaging measurements of plexiform neurofibromasTina Young Poussaint
Department of Radiology, Children s Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA 02115, USA
AJR Am J Roentgenol 180:419-23. 2003..This article validates the reproducibility of MR imaging volumetric measurements for evaluating the growth of plexiform neurofibromas in neurofibromatosis type 1...
- Association of urticaria pigmentosa with café-au-lait spots, neurofibromas and neurofibroma-like neoplasms: a mere coincidence?Matthias Möhrenschlager
Department of Dermatology and Allergy Biederstein, Technical University of Munich, Germany
Dermatology 206:297-302. 2003..Urticaria pigmentosa (UP) is characterized by dense aggregates of mast cells in the dermis. There is consistent evidence from the literature that mast cells may play a pathogenetic role in the development of neurofibromas and other tumors...
- [Value of MRI in hepatic plexiform neurofibromatosis. Case report]Jean Pierre Imbert
Service de Radiologie Digestive, Pavillon H Radiologie, Hopital Edouard Herriot, CHU Lyon, 69003 Lyon, France
Gastroenterol Clin Biol 26:791-3. 2002..Furthermore, MR imaging should be the first line noninvasive exploration for follow-up or biopsy guidance if progression to sarcomatosis is suspected...
- Clinics in diagnostic imaging (96). Plexiform neurofibromatosisP Visrutaratna
Department of Radiology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand
Singapore Med J 45:188-92. 2004..Histopathological examination revealed plexiform neurofibromas. CT and MR imaging findings in neurofibromatosis type 1 patients with craniofacial abnormalities are discussed...
- Growth type of plexiform neurofibromas in NF1 determined on magnetic resonance imagesR E Friedrich
Department of OMFS, Eppendorf University Hospital, University of Hamburg, Germany
Anticancer Res 23:949-52. 2003This article describes some types of growth in plexiform neurofibroma (PNF) on magnetic resonance images (MRI). This tumor is almost exclusively associated with NF1...
- Craniovertebral junction neoplasms in the pediatric populationArnold H Menezes
Department of Neurosurgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, 1824 JPP, Iowa City, IA 52242, USA
Childs Nerv Syst 24:1173-86. 2008..The incidence of tumors at the craniovertebral junction in the pediatric population is low. Because of the variable pathology and the rarity of these tumors, ideal therapies are only now being defined...
- [Managing children with neurofibromatosis type 1: what should we look for?]Cristina L Martins
Unidade de Neuropediatria e Desenvolvimento, Centro de Desenvolvimento da Criança Torrado da Silva, Servico de Pediatria, Hospital Garcia de Orta, Almada
Acta Med Port 20:393-400. 2007..NF1 is a variable condition concerning its clinical manifestations. It may also present different complications through life--a capital issue to pediatric management...
- Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1 (NF1): diagnostic findings on magnetic resonance images and mutation analysis of the NF1 geneReinhard E Friedrich
Maxillofacial Surgery Clinic, Eppendorf University Hospital, University of Hamburg, Germany
Anticancer Res 25:1699-702. 2005b>Plexiform neurofibroma (PNF) is a typical feature of neurofibromatosis 1 (NF1)...
- Malignant peripheral nerve sheath tumors of cranial nerves and intracranial contents: a clinicopathologic study of 17 casesBernd W Scheithauer
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 33:325-38. 2009..Identifiable precursor lesions included schwannoma (n=4), plexiform neurofibroma (n=2), and solitary intraneural neurofibroma (n=2)...
- Non-random associations and vascular fields in neurofibromatosis 1: a pathogenetic hypothesisMark S Lubinsky
Am J Med Genet A 140:2080-4. 2006..Tissue samples from four of these showed an unusual fibrous plexiform neurofibroma. Interestingly, five of the six cases were African Americans, and constitutional factors affecting fibrous ..
- Expression of insulin-like growth-factor-1 receptor (IGF-1R) in peripheral nerve sheath tumors in neurofibromatosis type 1R E Friedrich
Maxillofacial Surgery Clinic, Eppendorf University Hospital, University of Hamburg, Germany
Anticancer Res 27:2085-90. 2007..NF1 is a progressive disease with phase-like growth spurts of dermal or plexiform neurofibroma (PNF). These tumors can cause severe disfigurement of patients...
- Delayed rectifier K currents in NF1 Schwann cells. Pharmacological block inhibits proliferationLynne A Fieber
Division of Marine Biology and Fisheries, University of Miami Rosenstiel School, 4600 Rickenbacker Cswy, Miami, FL 33149, USA
Neurobiol Dis 13:136-46. 2003..Normal SC cultures had significantly more cells with A type current than cultures of MPNST and the plexiform neurofibroma. Conversely, MPNST and plexiform neurofibroma cultures had significantly more SC with DR current than did ..
- Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2Elizabeth A Grant
School of Medicine, Oregon Health and Science University, Portland, Oregon 97239, USA
Ophthalmic Genet 29:133-8. 2008..To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE)...
- Recent developments in neurofibromatosis type 1Ming Jen Lee
Department of Medical Genetics, National Taiwan University Hospital, National Taiwan University School of Medicine, Taipei, Taiwan
Curr Opin Neurol 20:135-41. 2007..This review summarizes the recent clinical and genetic developments in neurofibromatosis type 1 (NF1) and provides an insight into the possible underlying pathomechanisms...
- [Orbitotemporal facial involvement in type 1 neurofibromatosis (NF1)]B Rilliet
Service de Neurochirurgie, Hopital Cantonal Universitaire, 3 4, rue G Perret Gentil, 1211 Geneve 14, Suisse
Neurochirurgie 56:257-70. 2010..Progressive deformation of the orbital frame due to the expanding plexiform neurofibroma and buphthalmos occurs in a large proportion of cases...
- 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 clinical diagnosis was NF-1 in 57 cases, solitary neurofibroma in 35 cases, plexiform neurofibroma in four cases, and no distinct clinical diagnosis in five cases...
- [Extracerebral neoplastic manifestations in neurofibromatosis 1: integrated diagnostic imaging]F Ferrozzi
Istituto di Scienze Radiologiche, Universita degli Studi, Parma
Radiol Med 96:562-9. 1998..To analyze the extracerebral manifestations of type 1 neurofibromatosis (NF-1), with special reference to peripheral nerve tumors...
- Analysis of steroid hormone effects on xenografted human NF1 tumor schwann cellsHua Li
Department of Molecular Genetics and Microbiology, College of Medicine, University of Florida, Gainesville, FL, USA
Cancer Biol Ther 10:758-64. 2010..SC-enriched cultures derived from three human NF1 tumor types (dermal neurofibroma, plexiform neurofibroma, and malignant peripheral nerve sheath tumor (MPNST)) were xenografted in sciatic nerves of ovariectomized ..
- Neurofibromatosis of the nipple-areolar area: a case seriesMaria Rita Bongiorno
Department of Dermatology, University of Palermo, Sicily, Palermo, Italy
J Med Case Reports 4:22. 2010..One of the most noticeable characteristics of the disease is the development of neurofibromas...
- Plexiform-like neurofibromas develop in the mouse by intraneural xenograft of an NF1 tumor-derived Schwann cell lineGeorge Q Perrin
Department of Neuroscience, College of Medicine, University of Florida, Gainesville, FL 32610 0244, USA
J Neurosci Res 85:1347-57. 2007..The histologic features of the developed tumors were particularly consistent with those of human plexiform neurofibroma as well. Intraneural xenograft of sNF94...
- CD44 and p53 immunoexpression patterns in NF1 neoplasms - indicators of malignancy and infiltrationNicole D Riddle
Department of Pathology and Cell Biology, University of South Florida, Tampa, FL 33610, USA
Int J Clin Exp Pathol 3:515-21. 2010..b>Plexiform neurofibroma did not differ from other benign lesions in their expression of p53...
- Psoriatic skin expresses the transcription factor Gli1: possible contribution of decreased neurofibromin expressionH Endo
Department of Dermatology, Chiba Aoba Municipal Hospital, 1273 2 Aoba cho, Chuo Ku, Chiba 260 0852, Japan
Br J Dermatol 154:619-23. 2006..We have previously observed activation of the Hh signalling pathway in Schwann cells of plexiform neurofibroma in neurofibromatosis type 1 (NF1), which results from functional loss of the NF1 encoding protein, ..
- Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesisEric Pasmant
UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
J Neuropathol Exp Neurol 69:60-9. 2010..CCN4/WISP1 was upregulated, and CCN3/NOV and CCN5/WISP2 were downregulated in paired comparisons of plexiform neurofibroma and malignant peripheral nerve sheath tumor from the same patients...
- Vacuolated cells in neurofibroma: an immunohistochemical studyHideo Hattori
Department of Pathology, Kariya General Hospital, Kariya, Aichi, Japan
J Cutan Pathol 32:158-61. 2005..Vacuolated cells could be encountered in neurofibroma...
- Mesenchymal neoplasms of the major salivary glands: clinicopathological features of 18 casesKyung Ja Cho
Department of Pathology, University of Ulsan College of Medicine, Asan Medical Center, 388 1 Pungnap dong, Songpa Gu, Seoul 138 736, South Korea
Eur Arch Otorhinolaryngol 265:S47-56. 2008..Schwannomas were the most common benign tumors (six cases), followed by lipomas (three cases), plexiform neurofibroma, hemangioma, desmoid tumor, and solitary fibrous tumor (one each)...
- Morphological spectrum of peripheral nerve sheath tumors: a series of 126 casesSushma Kashinath Gabhane
Department of Pathology, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, India
Indian J Pathol Microbiol 52:29-33. 2009..Eleven (8.73%) patients with NF1 showed a strong association with plexiform neurofibroma. A malignant transformation in pre-existing neurofibroma was seen in 1 patient with NF1...
- Transformation of intracranial anaplastic astrocytoma associated with neurofibromatosis type I into gliosarcoma: case reportJin Hwan Cheong
Department of Neurosurgery, Hanyang University College of Medicine, Seoul, Republic of Korea
Clin Neurol Neurosurg 112:701-6. 2010..A month later, his spinal lesion was also resected and confirmed pathologically as plexiform neurofibroma. The subsequent follow-up period of 27 months was uneventful until he developed a generalized tonic-clonic ..
- Conditional N-rasG12V expression promotes manifestations of neurofibromatosis in a mouse modelH Saito
Department of Animal Genomics, Functional Genomics Institute, Mie University Life Science Research Center, Edobashi, Tsu, Mie, Japan
Oncogene 26:4714-9. 2007..In the 5th month, some developed protruding dermal neurofibromas involving subcutaneous fat. However, plexiform neurofibroma, schwannoma, astrocytoma and pheochromocytoma were not observed in the mice, suggesting a requirement for ..
- Lipoblast-like signet-ring cells in neurofibroma: a potential diagnostic pitfall of malignancyG M Vecchio
Department G F Ingrassia, Section of Anatomic Pathology, University of Catania, Italy
Pathologica 102:108-11. 2010..We report the first case of a plexiform neurofibroma from a NF1 patient containing exclusively lipoblast-like cells exhibiting morphological and ..
- [Isolated late-onset plexiform neurofibroma in the absence of neurofibromatosis]A Levy Bencheton
Service de Dermatologie, Hopital Sainte Marguerite, Universite de la Mediterranee Aix Marseille II, 270, boulevard de Sainte Marguerite, 13009 Marseille, France
Ann Dermatol Venereol 137:301-4. 2010b>Plexiform neurofibroma (NFP) is a benign nervous tumour typically involving the head and neck region due to the rich innervation of the latter. It is considered pathognomonic of neurofibromatosis type 1(NF1)...
- Neurogenic tumors of the neckA L Weber
Department of Radiology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
Radiol Clin North Am 38:1077-90. 2000..The plexiform neurofibroma and multiple localized neurofibromas are characteristic of NF1...
- Case studies for illustration and discussion: peripheral nerve tumorsJason H Huang
Department of Neurosurgery, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA
Neurosurg Clin N Am 15:241-9, viii. 2004..Cases 6 through 8 illustrate a plexiform neurofibroma, a malignant peripheral nerve sheath tumor, and a metastatic carcinoma to the brachial plexus region...
- A case of isolated plexiform neurofibroma in a patient with myasthenia gravisSeung Ju Back
Department of Dermatology, College of Medicine, Chungnam National University, Daejeon, Korea
Ann Dermatol 21:53-5. 2009We report a case of an isolated plexiform neurofibroma occurring in a patient with myasthenia gravis. A 48-year-old man presented with asymptomatic skin-colored nodules on the tip of his 4th finger...
- Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibromaV F Mautner
Department of Neurology, Klinikum Nord Hamburg, Langenhorner Chaussee 560, 22419 Hamburg, Germany
Neuroradiology 45:618-25. 2003b>Plexiform neurofibroma (PNF) is a typical feature of neurofibromatosis 1 (NF1)...
- Atypical plexiform neurofibroma in NF1 with high standardised uptake value (SUV) in positron-emission tomography (PET) expressing podoplaninReinhard E Friedrich
Department of Maxillofacial Surgery, University Medical Center Hamburg Eppendorf, University of Hamburg, Martinistr 52, D 20246 Hamburg, Germany
In Vivo 24:871-6. 2010..The extirpated tumour proved to be an atypical plexiform neurofibroma. Immunohistochemical investigations revealed a strong positive reaction of tumour cells for S-100 protein...
- Plexiform neurofibroma of the penis associated with erectile dysfunction due to arterial steelingGiulio Garaffa
St Peter s Department of Andrology, University College London Hospitals, London, UK
J Sex Med 5:234-6. 2008..Solitary involvement of the genitourinary tract by Von Recklinghousen disease (VRD) is extremely rare...
- Single-stage total endoscopic resection of a plexiform neurofibroma of the maxillary sinus in a child with type 1 neurofibromatosisRalph N Abi Hachem
Department of Otolaryngology Head and Neck Surgery, University of Miami, Miller School of Medicine, Miami, FL, USA
Int J Pediatr Otorhinolaryngol 74:426-9. 2010..The maxillary sinus is an extremely rare location of the plexiform neurofibroma and only two adult cases have been previously reported...
- Manifestations of the tongue in Neurofibromatosis type 1M R Bongiorno
Department of Dermatology, University of Palermo, Palermo, Sicily, Italy
Oral Dis 12:125-9. 2006..The aim of this study is to analyse alterations of the tongue and the correlation between these lesions and different types of tumor...
- Pediatric soft-tissue tumors and pseudotumors: MR imaging features with pathologic correlation: part 2. Tumors of fibroblastic/myofibroblastic, so-called fibrohistiocytic, muscular, lymphomatous, neurogenic, hair matrix, and uncertain originEoghan E Laffan
Department of Diagnostic Imaging, Hospital for Sick Children and University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
Radiographics 29:e36. 2009..and a synovial origin in pigmented villonodular synovitis, or the presence of multiple target signs on T2-weighted images in deep plexiform neurofibroma. In a large number of cases, however, tissue biopsy is required for final diagnosis.
- 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..By 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 ..
- The normal and pathologic MRI appearance of the tibialis anterior proximal motor branchMarie Noëlle Hébert-Blouin
Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota, USA
Clin Anat 23:992-9. 2010..in the four patients with pathology, which included a perineurioma, a fibular intraneural ganglion cyst, a plexiform neurofibroma, and an inflammation of the nerve...
- Neurofibromatosis contributing to carpometacarpal instabilityMaximillian Soong
Department of Orthopedic Surgery, Lahey Clinic, 41 Mall Rd, Burlington, MA 01805, USA
Orthopedics 32:55. 2009..Swelling was difficult to assess as the hand was deformed due to a large plexiform neurofibroma over the ulnar side of the hand...
- Pediatric brain MRI in neurofibromatosis type IHans J Mentzel
Department of Pediatric Radiology, Institute of Diagnostic and Interventional Radiology, Friedrich Schiller University Jena, Bachstrasse 18, 07740 Jena, Germany
Eur Radiol 15:814-22. 2005..multiple peripheral neurofibromas, NF I predisposed to CNS tumors including optic glioma, astrocytoma and plexiform neurofibroma. The purpose of this pictorial review is to illustrate characteristic brain MR imaging lesions in children ..
- Indications and limitations of intraoperative navigation in maxillofacial surgeryMax Heiland
Department of Oral and Maxillofacail Surgery, University Hospital Hamburg Eppendorf, Hamburg, Germany
J Oral Maxillofac Surg 62:1059-63. 2004..We want to demonstrate our clinical experiences, focusing on the indications and limitations of intraoperative navigation...
- 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 nerves, causing ..
- The role of Pak1 in regulating plexiform neurofibroma formationAndrew McDaniel; Fiscal Year: 2009..Pak1) in molecular pathways responsible for specific cellular and biochemical phenotypes associated with plexiform neurofibroma formation resulting from the genetic disorder Neurofibromatosis Type I (NF1)...
- CHILDRENS NATIONAL MEDICAL CENTERRoger Packer; Fiscal Year: 2003....
- Pirfenidone in Children with PNs in NF1Roger Packer; Fiscal Year: 2006..Abstract Not Provided ..
- Phenotyping & genotype-phenotype correlations in NF1Bruce Korf; Fiscal Year: 2006..abstract_text> ..