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Neurofibromatosis type 1

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https://www.readbyqxmd.com/read/28098509/-compassionate-use-protocol-for-auditory-brainstem-implantation-in-neurofibromatosis-type-2-early-house-ear-institute-experience
#1
Daniel S Roberts, William H Slattery, Brian S Chen, Steve R Otto, Marc S Schwartz, Gregory P Lekovic
OBJECTIVE: To report the preliminary outcomes of auditory brainstem implantation (ABI) under a compassionate use protocol for two ABI devices that are not approved by the US Food and Drug Administration. METHODS: A retrospective review was performed of neurofibromatosis type 2 (NF2) patients who underwent microsurgery for vestibular schwannoma (VS) and placement of either the Cochlear ABI541 or Med-El Synchrony ABIs. Peri-operative and device- related complications were reviewed...
January 18, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28093344/unusual-intracerebral-presentation-of-a-myxoid-neurofibroma-a-case-report
#2
Marcos Devanir Silva da Costa, Karina Hoshino, João Norberto Stavale, Oreste Paulo Lanzoni, Sergio Cavalheiro, Manoel Antonio Paiva Neto
BACKGROUND: Neurofibromas are benign nerve sheath tumors that usually affect peripheral nerves and are related to Neurofibromatosis type 1; however, they have not been described as a cause of intraparenchymal brain tumor. CASE DESCRIPTION: We report a case of intracranial myxoid neurofibroma in a 19-year-old female patient manifested as an intense and progressive cephalea, followed by nausea, vomiting, and photo- and phonophobia. Computerized tomography and magnetic resonance imaging showed an extent expansive left frontoparietal parafalcine/parasagittal tumor...
January 13, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28078640/development-of-the-pediatric-quality-of-life-inventory-neurofibromatosis-type-1-module-items-for-children-adolescents-and-young-adults-qualitative-methods
#3
Kavitha Nutakki, James W Varni, Sheila Steinbrenner, Claire B Draucker, Nancy L Swigonski
Health-related quality of life (HRQOL) is arguably one of the most important measures in evaluating effectiveness of clinical treatments. At present, there is no disease-specific outcome measure to assess the HRQOL of children, adolescents and young adults with Neurofibromatosis Type 1 (NF1). This study aimed to develop the items and support the content validity for the Pediatric Quality of Life Inventory™ (PedsQL™) NF1 Module for children, adolescents and young adults. The iterative process included multiphase qualitative methods including a literature review, survey of expert opinions, semi-structured interviews, cognitive interviews and pilot testing...
January 11, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28078568/rediagnosing-one-of-smith-s-patients-john-mccann-with-neuromas-tumours-1849
#4
Martino Ruggieri, Andrea D Praticò, Rosario Caltabiano, Agata Polizzi
In 1849, the Irish Professor of Surgery, Sir Robert William Smith, by publishing his "Treatise on the Pathology, Diagnosis and Treatment of Neuroma", collected six previous examples of "general development of neuromatous tumours" and reported three further cases (two personal and one referred) of what is nowadays known as neurofibromatosis. Among these latter cases, there was a 35-year-old cattle-driver, John McCann, who was first admitted at hospital in 1840 because of a large tumour on the right side of his neck thought to be malignant (and a second tumour sublingually) but not operated...
January 11, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28068329/the-primacy-of-nf1-loss-as-the-driver-of-tumorigenesis-in-neurofibromatosis-type-1-associated-plexiform-neurofibromas
#5
A Pemov, H Li, R Patidar, N F Hansen, S Sindiri, S W Hartley, J S Wei, A Elkahloun, S C Chandrasekharappa, J F Boland, S Bass, J C Mullikin, J Khan, B C Widemann, M R Wallace, D R Stewart
Neurofibromatosis type 1 (NF1) is a common tumor-predisposition disorder due to germline mutations in the tumor suppressor gene NF1. A virtually pathognomonic finding of NF1 is the plexiform neurofibroma (PN), a benign, likely congenital tumor that arises from bi-allelic inactivation of NF1. PN can undergo transformation to a malignant peripheral nerve sheath tumor, an aggressive soft-tissue sarcoma. To better understand the non-NF1 genetic contributions to PN pathogenesis, we performed whole-exome sequencing, RNASeq profiling and genome-wide copy-number determination for 23 low-passage Schwann cell cultures established from surgical PN material with matching germline DNA...
January 9, 2017: Oncogene
https://www.readbyqxmd.com/read/28067895/the-nf1-gene-in-tumor-syndromes-and-melanoma
#6
Maija Kiuru, Klaus J Busam
Activation of the RAS/MAPK pathway is critical in melanoma. Melanoma can be grouped into four molecular subtypes based on their main genetic driver: BRAF-mutant, NRAS-mutant, NF1-mutant, and triple wild-type tumors. The NF1 protein, neurofibromin 1, negatively regulates RAS proteins through GTPase activity. Germline mutations in NF1 cause neurofibromatosis type I, a common genetic tumor syndrome caused by dysregulation of the RAS/MAPK pathway, ie, RASopathy. Melanomas with NF1 mutations typically occur on chronically sun-exposed skin or in older individuals, show a high mutation burden, and are wild-type for BRAF and NRAS...
January 9, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28065690/medium-throughput-biochemical-compound-screening-identifies-novel-agents-for-pharmacotherapy-of-neurofibromatosis-type-i
#7
Galina Semenova, Dina Stepanova, Sergey M Deyev, Jonathan Chernoff
The variable manifestation of phenotypes that occur in patients with neurofibromatosis type 1 (NF1) includes benign and malignant neurocutaneous tumors for which no adequate treatment exists. Cell-based screening of known bioactive compounds library identified the protein phosphatase 2A (PP2A) inhibitor Cantharidin and the L-type calcium channel blocker Nifedipine as potential candidates for NF1 pharmacotherapy. Validation of screening results using human NF1-associated malignant peripheral nerve sheath tumor (MPNST) cells showed that Cantharidin effectively impeded MPNST cell growth, while Nifedipine treatment significantly decreased local tumor growth in an MPNST xenograft animal model...
January 5, 2017: Biochimie
https://www.readbyqxmd.com/read/28057529/genetic-inhibition-of-anaplastic-lymphoma-kinase-rescues-cognitive-impairments-in-neurofibromatosis-1-mutant-mice
#8
Joseph B Weiss, Sydney J Weber, Eileen Ruth S Torres, Tessa Marzulla, Jacob Raber
Heterozygous Neurofibromatosis 1 (NF1) loss of function mutations occur in approximately 90% of patients with neurofibromatosis. A major, disabling phenotypic consequence of reduced NF1 function is cognitive impairment; a possibly related behavioral phenotype is impaired sleep. Recent results in Drosophila have demonstrated a genetic interaction between Anaplastic Lymphoma Kinase (Alk) and NF1 for both associative learning and sleep. Inhibition of Alk improves associative learning and sleep in heterozygous NF1 mutant flies...
January 3, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28057401/ruptured-extradural-vertebral-artery-aneurysm-in-a-patient-with-neurofibromatosis-type-1
#9
Chia-Ying Lin, Yu-Hsiang Shih, Ming-Tsung Chuang
No abstract text is available yet for this article.
January 2, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28052660/outcomes-of-treatment-for-malignant-peripheral-nerve-sheath-tumors-different-clinical-features-associated-with-neurofibromatosis-type-1
#10
In Kyung Hwang, Seung Min Hahn, Hyo Sun Kim, Sang Kyum Kim, Hyo Song Kim, Kyoo-Ho Shin, Chang Ok Suh, Chuhl Joo Lyu, Jung Woo Han
Purpose: Malignant peripheral nerve sheath tumors (MPNSTs) are a rare subtype of sarcoma that occur spontaneously or in association with neurofibromatosis type 1 (NF-1). This study aimed to clinically differentiate these types of MPNSTs. Materials and Methods: The study reviewed 95 patients diagnosed with and treated for MPNST at Yonsei University Health System, Seoul, Korea over a 27-year period. The clinical characteristics, prognostic factors, and treatment outcomes of sporadic (sMPNST) and NF-1 associated MPNST (NF-MPNST) cases were compared...
December 1, 2016: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/28050470/neurofibromatosis-type-1-presenting-with-ophthalmic-features-a-case-series
#11
Gunjan Jain, Vaibhav Kumar Jain, Indra Kumar Sharma, Reena Sharma, Neeraj Saraswat
Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder involving multiple systems and affects approximately 1 out of 3000 persons. Ocular manifestations are lisch nodules, plexiform neurofibroma, optic pathway gliomas. The proper diagnosis of NF-1 is a crucial task for a clinician due to the various clinical manifestations including vision and life threatening malignancies in few patients, which may arise in the different phases of life. The authors report three cases of NF-1, presenting with ophthalmic symptoms in teenager boys...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28039362/defining-the-temporal-course-of-murine-neurofibromatosis-1-optic-gliomagenesis-reveals-a-therapeutic-window-to-attenuate-retinal-dysfunction
#12
Joseph A Toonen, Yu Ma, David H Gutmann
BACKGROUND: Optic gliomas arising in the neurofibromatosis type 1 (NF1) cancer predisposition syndrome cause reduced visual acuity in 30%-50% of affected children. Since human specimens are rare, genetically engineered mouse (GEM) models have been successfully employed for preclinical therapeutic discovery and validation. However, the sequence of cellular and molecular events that culminate in retinal dysfunction and vision loss has not been fully defined relevant to potential neuroprotective treatment strategies...
December 29, 2016: Neuro-oncology
https://www.readbyqxmd.com/read/28036318/unanticipated-compression-of-the-trachea-in-a-5-month-old-undergoing-an-mri-for-evaluation-of-neurofibromatosis
#13
Uduak Ursula Williams, Acsa M Zavala, Antoinette Van Meter, Elizabeth Rebello, Jens Tan, Pascal Owusu-Agyemang
Neurofibromatosis type 1 is an autosomal-dominant disorder with the tendency toward the formation of tumors. Plexiform neurofibromas are the most common type of tumors seen in neurofibromatosis type 1. Approximately 50% occur in the head and neck region with a 5% incidence of airway involvement. We describe the case of a 5 month old with a plexiform neurofibroma of the neck who developed complete airway obstruction on induction of anesthesia. Magnetic resonance imaging revealed a skull base neurofibroma extending to the hypopharynx and resulting in deviation of the airway...
January 1, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28029918/activity-of-selumetinib-in-neurofibromatosis-type-1-related-plexiform-neurofibromas
#14
Eva Dombi, Andrea Baldwin, Leigh J Marcus, Michael J Fisher, Brian Weiss, AeRang Kim, Patricia Whitcomb, Staci Martin, Lindsey E Aschbacher-Smith, Tilat A Rizvi, Jianqiang Wu, Rachel Ershler, Pamela Wolters, Janet Therrien, John Glod, Jean B Belasco, Elizabeth Schorry, Alessandra Brofferio, Amy J Starosta, Andrea Gillespie, Austin L Doyle, Nancy Ratner, Brigitte C Widemann
Background Effective medical therapies are lacking for the treatment of neurofibromatosis type 1-related plexiform neurofibromas, which are characterized by elevated RAS-mitogen-activated protein kinase (MAPK) signaling. Methods We conducted a phase 1 trial of selumetinib (AZD6244 or ARRY-142886), an oral selective inhibitor of MAPK kinase (MEK) 1 and 2, in children who had neurofibromatosis type 1 and inoperable plexiform neurofibromas to determine the maximum tolerated dose and to evaluate plasma pharmacokinetics...
29, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/28001256/body-composition-in-adults-with-neurofibromatosis-type-1
#15
Marcio Souza, Ann Jansen, Aline Martins, Luiz Rodrigues, Nilton Rezende
Objective: To evaluate the body composition and nutritional status of neurofibromatosis type 1 (NF1) adult patients. Method: A cross-sectional study of 60 NF1 patients (29 men, 31 women) aged ≥ 18 years who were evaluated from September 2012 to September 2013 in a Neurofibromatosis Outpatient Reference Center. Patients underwent nutritional assessment including measurements of weight, stature, waist circumference (WC), upper-arm circumference (UAC), and skinfolds (biceps, triceps, subscapular, suprailiac)...
December 2016: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28001089/the-role-of-the-immune-system-in-neurofibromatosis-type-1-associated-nervous-system-tumors
#16
Souvik Karmakar, Karlyne M Reilly
With the recent development of new anticancer therapies targeting the immune system, it is important to understand which immune cell types and cytokines play critical roles in suppressing or promoting tumorigenesis. The role of mast cells in promoting neurofibroma growth in neurofibromatosis type 1 (NF1) patients was hypothesized decades ago. More recent experiments in mouse models have demonstrated the causal role of mast cells in neurofibroma development and of microglia in optic pathway glioma development...
December 21, 2016: CNS Oncology
https://www.readbyqxmd.com/read/27999927/incidence-and-risk-factors-for-the-misplacement-of-pedicle-screws-in-scoliosis-surgery-assisted-by-o-arm-navigation-analysis-of-a-large-series-of-one-thousand-one-hundred-and-forty-five-screws
#17
Mengran Jin, Zhen Liu, Yong Qiu, Huang Yan, Xiao Han, Zezhang Zhu
PURPOSE: To assess the accuracy of O-arm-navigation-based pedicle screw placement in scoliosis surgery and identify the potential risk factors for the misplacement of pedicle screws. METHODS: One hundred forty four scoliosis patients treated with O-arm-navigation-based pedicle screw instrumentation were enrolled, and 1145 pedicle screws implanted in the apical region of the curves were retrospectively reviewed for accuracy according to post-operative CT images. The potential risk factors and independent predictive factor(s) for the misplaced screws were identified statistically...
December 21, 2016: International Orthopaedics
https://www.readbyqxmd.com/read/27999497/clinical-images-imaging-manifestations-of-orbital-neurofibromatosis-type-1
#18
James M Milburn, Carlos R Gimenez, Elizabeth Dutweiler
No abstract text is available yet for this article.
2016: Ochsner Journal
https://www.readbyqxmd.com/read/27999334/hybridization-capture-based-next-generation-sequencing-to-evaluate-coding-sequence-and-deep-intronic-mutations-in-the-nf1-gene
#19
Karin Soares Cunha, Nathalia Silva Oliveira, Anna Karoline Fausto, Carolina Cruz de Souza, Audrey Gros, Thomas Bandres, Yamina Idrissi, Jean-Philippe Merlio, Rodrigo Soares de Moura Neto, Rosane Silva, Mauro Geller, David Cappellen
Neurofibromatosis 1 (NF1) is one of the most common genetic disorders and is caused by mutations in the NF1 gene. NF1 gene mutational analysis presents a considerable challenge because of its large size, existence of highly homologous pseudogenes located throughout the human genome, absence of mutational hotspots, and diversity of mutations types, including deep intronic splicing mutations. We aimed to evaluate the use of hybridization capture-based next-generation sequencing to screen coding and noncoding NF1 regions...
December 17, 2016: Genes
https://www.readbyqxmd.com/read/27980226/novel-phenotypes-of-nf1-patients-from-unrelated-chinese-families-with-tibial-pseudarthrosis-and-anemia
#20
Santasree Banerjee, Dongzhu Lei, Shengran Liang, Li Yang, Saijun Liu, Zhu Wei, Jian Ping Tang
Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase activating protein. In our study, we present a clinical molecular study of four Chinese probands with NF1 from four unrelated families, showing extreme phenotypic variation with rare phenotype. In family 1, the proband is a 16 months old girl with multiple café-au-lait spots throughout her whole body...
December 14, 2016: Oncotarget
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