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Neurofibromatosis type 2

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https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#1
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
December 2, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27900489/an-association-of-peripheral-nerve-sheath-tumors-and-lipomas
#2
Mohamed A Elsherif, Dusica Babovic-Vuksanovic, Robert J Spinner
BACKGROUND: We noticed the coexistence of peripheral nerve sheath tumors (PNST) with lipomas within a subgroup of our patients. Given the prevalence of lipomas in the general population, we sought to investigate the extent of coexistence of the two entities aiming at uncovering any plausible association between both. METHODS: A retrospective review of all peripheral nerve sheath tumors (sporadic and syndromic forms) treated by a single surgeon between January 2009 and August 2015 was done...
November 30, 2016: Acta Neurochirurgica
https://www.readbyqxmd.com/read/27900010/a-novel-mutation-of-the-fat2-gene-in-spinal-meningioma
#3
Genshu Tate, Koji Kishimoto, Toshiyuki Mitsuya
Meningiomas may be classified as neurofibromin 2 (NF2)-associated and non-NF2 meningiomas depending on the presence or absence of molecular alterations in the NF2 gene. One of the characteristic histological features of meningiomas is the whorl formation of neoplastic arachnoid cells. NF2 is a human homolog of the Drosophila gene, Merlin (Mer). In humans, NF2 is the gene responsible for the disease neurofibromatosis type II, which results in the development of brain tumors, including acoustic neurinoma and meningioma...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27876659/surgical-treatment-for-patients-with-moyamoya-syndrome-and-type-1-neurofibromatosis
#4
Jose L Porras, Wuyang Yang, Tomas Garzon-Muvdi, Risheng Xu, Jaishri Blakeley, Allan Belzberg, Justin M Caplan, Syed Khalid, Geoffrey P Colby, Alexander L Coon, Rafael J Tamargo, Edward S Ahn, Judy Huang
INTRODUCTION: The current study describes the impact of surgery in preventing follow-up ipsilateral TIAs/strokes in an East Coast North American cohort of patients with both moyamoya syndrome (MMS) and neurofibromatosis type 1 (NF1) (MMS-NF1). METHODS: We retrospectively reviewed records of patients with MMS and NF1 at the Johns Hopkins Medical Institutions from 1990-2014. Baseline characteristics and follow-up results including subsequent ipsilateral strokes were collected, and compared between a revascularization group (group1) and a conservatively managed group (group2) on a per-hemisphere basis...
November 19, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27875628/clinical-genomic-profiling-identifies-tyk2-mutation-and-overexpression-in-patients-with-neurofibromatosis-type-1-associated-malignant-peripheral-nerve-sheath-tumors
#5
Angela C Hirbe, Madhurima Kaushal, Mukesh Kumar Sharma, Sonika Dahiya, Melike Pekmezci, Arie Perry, David H Gutmann
BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise at an estimated frequency of 8% to 13% in individuals with neurofibromatosis type 1 (NF1). Compared with their sporadic counterparts, NF1-associated MPNSTs (NF1-MPNSTs) develop in young adults, frequently recur (approximately 50% of cases), and carry a dismal prognosis. As such, most individuals affected with NF1-MPNSTs die within 5 years of diagnosis, despite surgical resection combined with radiotherapy and chemotherapy...
November 22, 2016: Cancer
https://www.readbyqxmd.com/read/27871951/regulation-of-merlin-by-protein-phosphatase-1-timap-and-ebp50-in-endothelial-cells
#6
Anita Boratkó, Margit Péter, Csilla Csortos
Merlin (moesin-ezrin-radixin like protein), the product of neurofibromatosis type 2 gene, was primarily recognized as a tumor suppressor, but it also functions as a membrane-cytoskeletal linker and regulator of multiple signaling pathways. The activity and localization of merlin is regulated by head to tail folding that is controlled by phosphorylation of the Ser518 side chain. Merlin localizes in the nucleus when the Ser518 side chain is not phosphorylated, while the phosphorylated form is present in the cytoplasm and the plasma membrane...
November 18, 2016: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/27871894/optimizing-gdna-extraction-from-fresh-frozen-meningioma-tissue-for-downstream-genetic-analysis
#7
D T Proctor, E H Yoo, Z Vujadinovic, S Lama, G van Marle, G R Sutherland
OBJECTIVE: Meningioma is the most common brain tumor. Genetic mutations in meningioma that include deletion of the neurofibromatosis type 2 gene, (NF2), offer diagnostic information on tumor behavior, recurrence and potential response to treatment. Obtaining high-grade genetic material is critical for accurate, sensitive and robust molecular testing. Currently, no standardized procedure exists for extracting gDNA from meningioma, and this problem was addressed in this report. METHOD: This study compared the yield and quality of extracted gDNA from patient meningioma specimens using an optimized phenol chloroform method and two commercial silica column-based extractions kits and tested respective performances as template in qPCR tests and multiplex ligation-dependent probe amplification (MLPA) NF2 screening...
November 19, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27856782/revisiting-neurofibromatosis-type-2-diagnostic-criteria-to-exclude-lztr1-related-schwannomatosis
#8
Miriam J Smith, Naomi L Bowers, Michael Bulman, Carolyn Gokhale, Andrew J Wallace, Andrew T King, Simon K L Lloyd, Scott A Rutherford, Charlotte L Hammerbeck-Ward, Simon R Freeman, D Gareth Evans
OBJECTIVE: To determine the specificity of the current clinical diagnostic criteria for neurofibromatosis type 2 (NF2) relative to the requirement for unilateral vestibular schwannoma (VS) and at least 2 other NF2-related tumors. METHODS: We interrogated our Manchester NF2 database, which contained 205 individuals meeting NF2 criteria who initially presented with a unilateral VS. Of these, 83 (40.7%) went on to develop a contralateral VS. We concentrated our genetic analysis on a group of 70 who initially fulfilled NF2 criteria with a unilateral vestibular schwannoma and at least 2 additional nonintradermal schwannomas...
November 16, 2016: Neurology
https://www.readbyqxmd.com/read/27834629/malignant-peripheral-nerve-sheath-tumors-of-the-spine-results-of-surgical-management-from-a-multicenter-study
#9
Dean Chou, Mark H Bilsky, Alessandro Luzzati, Charles G Fisher, Ziya L Gokaslan, Laurence D Rhines, Mark B Dekutoski, Michael G Fehlings, Ravi Ghag, Peter Varga, Stefano Boriani, Niccole M Germscheid, Jeremy J Reynolds
OBJECTIVE Malignant peripheral nerve sheath tumors (MPNSTs) are rare soft-tissue sarcomas. Resection is the mainstay of treatment and the most important prognostic factor. However, complete resection of spinal MPNSTs with tumor-free margins is challenging due to the likelihood of residual tumor cells. The objective of this study was to describe whether the type of Enneking resection in the management of spinal MPNSTs had an effect on local recurrence and survival. METHODS The AOSpine Knowledge Forum Tumor developed a multicenter database that includes demographic, diagnostic, therapeutic, local recurrence, and survival data on patients with primary spinal column tumors...
November 11, 2016: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/27831970/spontaneous-closure-of-a-macular-hole-after-four-failed-vitrectomies-in-the-setting-of-nf-1
#10
Kendall W Wannamaker, Robert A Sharpe, Jan A Kylstra
PURPOSE: To present the case of a patient who developed spontaneous closure of an idiopathic macular hole after four failed attempts at surgical closure. METHODS: This is a retrospective case review of the medical record of a single patient. No statistical analysis was performed. The patient is a 71-year-old white woman with neurofibromatosis Type 1 who presented to the retina clinic of one of the authors. RESULTS: The patient underwent four vitrectomies with long acting gas by two surgeons over the course of 2 years...
November 9, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27816997/gamma-knife-radiosurgery-for-neurofibromatosis-type-2-associated-meningiomas-a-22-year-patient-series
#11
Brandon Birckhead, Terence T Sio, Bruce E Pollock, Michael J Link, Nadia N Laack
Neurofibromatosis type 2 (NF2) is a debilitating genetic condition with potential development of multiple meningiomas. We report our experience treating a series of NF2-associated intracranial meningiomas with Gamma Knife radiosurgery (GKRS). Between 1992 and 2013, 15 consecutive patients (age 20-54 years) with 62 intracranial meningiomas were treated with single-fraction GKRS. Fifty-five percent of tumors involved the convexity or parasagittal/falx. The median prescription dose was 16 Gy (range 13-20 Gy)...
November 5, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27815599/tumor-segmentation-of-whole-body-magnetic-resonance-imaging-in-neurofibromatosis-type-1-patients-tumor-burden-correlates
#12
Michael A Heffler, Lu Q Le, Yin Xi, Avneesh Chhabra
OBJECTIVE: Segmentation of whole-body MRI (WBMRI) to assess the feasibility, quantitate the total tumor volume (tumor burden) in patients with neurofibromatosis type 1 (NF1) and examine associations with demographic, disease-related and anthropomorphic features. METHODS: A consecutive series of patients with NF1 underwent WBMRI and were reviewed for tumors. Tumors were segmented using a semiautomated software-based tool. Tumors were classified as superficial or deep and discrete or plexiform...
November 4, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27815398/optic-pathway-glioma-volume-predicts-retinal-axon-degeneration-in-neurofibromatosis-type-1
#13
Robert A Avery, Awais Mansoor, Rabia Idrees, Carmelina Trimboli-Heidler, Hiroshi Ishikawa, Roger J Packer, Marius George Linguraru
OBJECTIVE: To determine whether tumor size is associated with retinal nerve fiber layer (RNFL) thickness, a measure of axonal degeneration and an established biomarker of visual impairment in children with optic pathway gliomas (OPGs) secondary to neurofibromatosis type 1 (NF1). METHODS: Children with NF1-OPGs involving the optic nerve (extension into the chiasm and tracts permitted) who underwent both volumetric MRI analysis and optical coherence tomography (OCT) within 2 weeks of each other were included...
November 4, 2016: Neurology
https://www.readbyqxmd.com/read/27807120/outcomes-of-spinal-fusion-for-cervical-kyphosis-in-children-with-neurofibromatosis
#14
Ilkka J Helenius, Paul D Sponseller, William Mackenzie, Thierry Odent, John P Dormans, Jahangir Asghar, Karl Rathjen, Joshua M Pahys, Firoz Miyanji, Daniel Hedequist, Jonathan H Phillips
BACKGROUND: Cervical kyphosis may occur with neurofibromatosis type I (NF1) and is often associated with vertebral dysplasia. Outcomes of cervical spinal fusion in patients with NF1 are not well described because of the rarity of the condition. We aimed to (1) characterize the clinical presentation of cervical kyphosis and (2) report the outcomes of posterior and anteroposterior cervical fusion for the condition in these children. METHODS: The medical records and imaging studies of 22 children with NF1 who had undergone spinal fusion for cervical kyphosis (mean, 67°) at a mean age of 11 years and who had been followed for a minimum of 2 years were reviewed...
November 2, 2016: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/27799981/meningioangiomatosis-in-an-otherwise-healthy-13-year-old-boy-a-case-report-with-emphasis-on-histopathological-findings
#15
Dorna Motevalli, Naser Kamalian, Seyed Mohammad Tavangar
Meningioangiomatosis is regarded as a rare benign hamartomatous condition mostly involving the cerebral cortex and overlying leptomeninges. A strong association of MA with neurofibromatosis type 2 has been documented in published articles. Herein we report a case of an otherwise healthy 13-year-old boy with no family history or stigmata of neurofibromatosis who presented with intractable seizures. MRI revealed a 2x2 cm mass lesion in the frontal lobe. The patient underwent complete surgical resection of the lesion...
2016: Iranian Journal of Pathology
https://www.readbyqxmd.com/read/27796735/toxicity-profile-of-bevacizumab-in-the-uk-neurofibromatosis-type-2-cohort
#16
Katrina A Morris, John F Golding, Claire Blesing, D Gareth Evans, Rosalie E Ferner, Karen Foweraker, Dorothy Halliday, Raj Jena, Catherine McBain, Martin G McCabe, Angela Swampillai, Nicola Warner, Shaun Wilson, Allyson Parry, Shazia K Afridi
Bevacizumab is considered an established part of the treatment strategies available for schwannomas in patients with Neurofibromatosis type 2 (NF2). In the UK, it is available through NHS National Specialized Commissioning to NF2 patients with a rapidly growing target schwannoma. Regrowth of the tumour on suspension of treatment is often observed resulting in prolonged periods of exposure to bevacizumab to control the disease. Hypertension and proteinuria are common events with bevacizumab use and there are concerns with regards to the long-term risks of prolonged treatment...
October 28, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27787920/phaeochromocytomas-are-diagnosed-incidentally-and-at-older-age-in-neurofibromatosis-type-1
#17
Jessica Moramarco, Nada El Ghorayeb, Nadine Dumas, Serge Nolet, Luce Boulanger, Nelly Burnichon, André Lacroix, Zaki Elhaffaf, Anne-Paule Gimenez Roqueplo, Pavel Hamet, Isabelle Bourdeau
INTRODUCTION: Guidelines do not currently recommend routine systematic hormonal screening for phaeochromocytoma (PHEO) in all/normotensive patients with Neurofibromatosis type 1 (NF1), in contrast to other PHEO predisposing genetic syndromes such as Von Hippel Lindau syndrome and Multiple endocrine neoplasia type 2. OBJECTIVES: To characterise and compare parameters of PHEO in NF1 patients to patients with or without other germline mutations. METHODS: Retrospective chart review of patients with histologically proven PHEO at the Centre Hospitalier de l'Université de Montréal from 2000 through 2015...
October 27, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27785414/von-recklinghausen-disease-one-patient-various-problems
#18
B Bergler-Czop, B Miziołek, L Brzezińska-Wcisło
von Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most common genodermatosis. The disease has an autosomal dominant pattern of inheritance that involves mutations within the NF1 gene located on chromosome 17 in locus q11.2. The product of the NF1 gene is neurofibromin and the protein is well known to be a tumor suppressor factor. This counteracts possible overactivity of RAS (protein)/MAPK (mitogen-activated protein kinase) and RAS/PI3K/AKT/mTOR (phoshatydyloinositol-3-kinase/V-akt murine thy-moma viral oncogene homologue/mammalian target of rapamycin) signaling transduction pathways, preventing from uncontrolled cell proliferation and subsequent tumor formation...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27777160/growth-dynamics-of-intracranial-tumors-in-patients-with-neurofibromatosis-type-2
#19
Anna C Lawson McLean, Steffen K Rosahl
OBJECT: Neurofibromatosis type 2 is an autosomal-dominant disorder caused by a defective gene locus 22q12. Patients with NF2 are prone to develop multiple intracranial neoplasms, such as vestibular schwannomas, meningiomas and schwannomas of other cranial nerves. To date, little is known about the growth dynamics of these tumors. The aim of our study was to investigate a) the median growth rate per year, b) the growth-free intervals, and c) the growth patterns of these tumors. METHODS: Patient records from the regional neurofibromatosis center were evaluated for their suitability in this analysis...
October 21, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27777154/a-retrospective-analysis-of-vision-impairing-tumors-among-467-patients-with-neurofibromatosis-type-2
#20
Peng Li, Zhenmin Wang, Qiangyi Zhou, Shiwei Li, Jing Zhang, Ying Wang, Xingchao Wang, Bo Wang, Fu Zhao, Pinan Liu, Zhijun Yang
BACKGROUND: Vision is extremely important for patients with hearing loss due to neurofibromatosis type 2 (NF2). Tumors adjacent to the anterior visual pathway can potentially impair the vision. To date, only a few case reports and small-series studies have been reported. OBJECTIVE: To evaluate the clinical features of tumors adjacent to the anterior visual pathway in a large series of NF2 patients. METHODS: Seventy-three patients with potentially vision-impairing tumors were carefully screened from among 467 NF2 patients...
October 21, 2016: World Neurosurgery
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