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Neurofibroma

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https://www.readbyqxmd.com/read/28099461/whole-exome-sequencing-of-growing-and-non-growing-cutaneous-neurofibromas-from-a-single-patient-with-neurofibromatosis-type-1
#1
Daniel L Faden, Saurabh Asthana, Tarik Tihan, Joseph DeRisi, Michel Kliot
The growth behaviors of cutaneous neurofibromas in patients with Neurofibromatosis type 1 are highly variable. The role of the germline NF1 mutation, somatic NF1 mutation and mutations at modifying loci, are poorly understood. We performed whole exome sequencing of three growing and three non-growing neurofibromas from a single individual to assess the role of acquired somatic mutations in neurofibroma growth behavior. 1-11 mutations were identified in each sample, including two deleterious NF1 mutations. No trends were present between the types of somatic mutations identified and growth behavior...
2017: PloS One
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/28089105/selumetinib-for-children-with-plexiform-neurofibromas
#3
Talha Khan Burki
No abstract text is available yet for this article.
January 6, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28068329/the-primacy-of-nf1-loss-as-the-driver-of-tumorigenesis-in-neurofibromatosis-type-1-associated-plexiform-neurofibromas
#4
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/28067315/kank1-inhibits-cell-growth-by-inducing-apoptosis-though-regulating-cxxc5-in-human-malignant-peripheral-nerve-sheath-tumors
#5
Zhibin Cui, Yingjia Shen, Kenny H Chen, Suresh K Mittal, Jer-Yen Yang, GuangJun Zhang
Malignant peripheral nerve sheath tumors (MPNSTs) are a type of rare sarcomas with a poor prognosis due to its highly invasive nature and limited treatment options. Currently there is no targeted-cancer therapy for this type of malignancy. Thus, it is important to identify more cancer driver genes that may serve as targets of cancer therapy. Through comparative oncogenomics, we have found that KANK1 was a candidate tumor suppressor gene (TSG) for human MPNSTs. Although KANK1 is known as a cytoskeleton regulator, its tumorigenic function in MPNSTs remains largely unknown...
January 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28050470/neurofibromatosis-type-1-presenting-with-ophthalmic-features-a-case-series
#6
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/28050327/isolated-schwannoma-of-the-upper-eyelid-margin-in-a-50-year-old-male
#7
Mehmet Serdar Dervişoğulları, Yüksel Totan, Ümran Yıldırım
Schwannomas (neurilemmomas) are benign neurogenic tumours of peripheral nerves. They originate from Schwann cells, which form the neural sheath. Although Schwannomas and neurofibromas are the most common primary peripheral nerve tumours, Schwannomas are rarely observed in ophthalmic areas. When they occur, ocular Schwannomas are usually located in the orbit, uveal tract and conjunctiva. Isolated eyelid Schwannomas are reported infrequently. Herein, we describe a case of eyelid Schwannoma in a 50-year-old man...
December 2016: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28044305/clinicopathological-analysis-of-mediastinal-masses-a-mixed-bag-of-non-neoplastic-and-neoplastic-etiologies
#8
Preeti Sharma, Vidya Jha, Naveen Kumar, Rohit Kumar, Ashish Mandal
OBJECTIVE: The mediastinum is the central portion of the thoracic cavity, housing numerous organs and harbouring a mixed bag of non-neoplastic and neoplastic lesions. Accurate diagnosis is essential owing to the widely variable therapeutic and prognostic implications. MATERIAL AND METHOD: Cases of mediastinal masses were retrospectively reviewed from January 2011 till January 2016. Clinico-radiological records of these cases were retrieved. Fine needle aspiration cytology (FNAC) was performed wherever feasible...
2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28041317/stereotactic-radiosurgery-for-intradural-spine-tumors-using-cone-beam-ct-image-guidance
#9
Andrés Monserrate, Benjamin Zussman, Alp Ozpinar, Ajay Niranjan, John C Flickinger, Peter C Gerszten
OBJECTIVE Cone-beam CT (CBCT) image guidance technology has been widely adopted for spine radiosurgery delivery. There is relatively little experience with spine radiosurgery for intradural tumors using CBCT image guidance. This study prospectively evaluated a series of intradural spine tumors treated with radiosurgery. Patient setup accuracy for spine radiosurgery delivery using CBCT image guidance for intradural spine tumors was determined. METHODS Eighty-two patients with intradural tumors were treated and prospectively evaluated...
January 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28038780/solitary-neurofibroma-of-the-jugular-foramen-with-extension-to-the-middle-ear-case-report
#10
M Carrillo García, A Pons Escoda
No abstract text is available yet for this article.
December 27, 2016: Radiología
https://www.readbyqxmd.com/read/28036318/unanticipated-compression-of-the-trachea-in-a-5-month-old-undergoing-an-mri-for-evaluation-of-neurofibromatosis
#11
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
#12
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/28001089/the-role-of-the-immune-system-in-neurofibromatosis-type-1-associated-nervous-system-tumors
#13
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/27998663/reconstruction-with-soft-tissue-free-flaps-for-large-defects-after-the-resection-of-giant-facial-neurofibroma
#14
L Hu, Y Xi, Y Wang, L Jiannan, J Han, Y Miao, S Gokavarapu, C Zhang, L Xu
Giant facial neurofibroma leads to disfigurement and functional and neurological deficits. Surgical resection is the mainstay of treatment and poses a great challenge to the surgeon with regard to the restoration of the defects arising from tumour resection. The cases of three male and three female patients diagnosed with giant facial neurofibroma, who underwent radical resection and reconstruction with soft tissue free flaps between 2008 and 2015, were analyzed retrospectively. Clinical data including patient sex, age, preoperative embolization of the nutrient artery, volume of blood loss, type and size of flaps used for reconstruction, and complications were recorded...
December 17, 2016: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/27992966/the-role-of-phosphorylated-signal-transducer-and-activator-of-transcription-3-pstat3-in-peripheral-nerve-sheath-tumors
#15
Gauri Panse, Cheuk Hong Leung, Davis Ingram, Khalida Wani, Keila E Torres, Heather Lin, Alexander Lazar, Wei-Lien Wang
AIMS: STAT3 is a pro-oncogenic transcription factor that requires phosphorylation for transcriptional activation. We evaluated the role of pSTAT3 expression in neurofibromas, schwannomas and malignant peripheral nerve sheath tumors (MPNSTs). METHODS AND RESULTS: 26 neurofibromas, 62 schwannomas and 39 MPNSTs from a formalin-fixed paraffin-embedded tissue microarray were examined. Immunohistochemical analysis was performed using an anti-p-STAT3 (Tyr705) antibody...
December 19, 2016: Histopathology
https://www.readbyqxmd.com/read/27990385/segmental-neurofibromatosis-with-deep-schwannoma
#16
Wallace A Smith, Brittany A Buhalog, Katherine H Fiala
An elderly patient presented with two clusters of asymptomatic fleshy and pedunculated papules. Biopsy of the papules was consistent with neurofibromas. Decades prior she had undergone a surgery for the excision of a large schwannoma. Given her lack of other neurofibromatosis findings, the patient was diagnosed with multisegmental neurofibromatosis (multi-SN) with deep schwannoma, a possible new phenotype of SN. Because this entity may be associated with internal malignancy, it is important to screen and educate these patients as well as to provide regular follow-up...
November 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27984597/neurofibroma-of-the-gallbladder-not-associated-with-neurofibromatosis
#17
Tsutomu Namikawa, Yasuhiro Kawanishi, Yuki Fujieda, Kazune Fujisawa, Eri Munekage, Masaya Munekage, Hiromichi Maeda, Hiroyuki Kitagawa, Michiya Kobayashi, Kazuhiro Hanazak
An 82-year-old woman had visited her local clinic with a history of abdominal discomfort and dyspepsia related to meals over a period of several months. Esophagogastroduodenoscopy revealed a superficial spreading tumor that, on biopsy, was proven to be an adenocarcinoma, and colonoscopy revealed an ascending mass that was found to be an adenocarcinoma on biopsy, so the patient was referred to our hospital. Abdominal computed tomography revealed a mass in the ascending colon with regional lymph node swelling and a gallbladder stone measuring 1...
December 16, 2016: Surgical Technology International
https://www.readbyqxmd.com/read/27981288/schwannoma-of-the-median-nerve-mimicking-carpal-tunnel-syndrome-in-a-pregnant-patient-case-report
#18
Giokits-Kakavouli Giasna, Mihaela C Micu, Romeo Micu
In patients with symptoms of a peripheral neuropathy especially during pregnancy, use of imaging techniques such as Ultrasound (US) and Magnetic Resonance Imaging (MRI) may be essential for the diagnostic accomplishment. A 30-weekspregnant diabetic female attending US evaluation due to intermittent hand pain, numbness, and weakness bilaterally. Although, the US evaluation revealed the median nerve (MN) normal size, echogenicity and echo-texture within the right carpal tunnel; the US assessment applied proximally to the carpal tunnel, revealed a hypoechoic tumor-like mass and increased MN cross section area...
December 5, 2016: Medical Ultrasonography
https://www.readbyqxmd.com/read/27980226/novel-phenotypes-of-nf1-patients-from-unrelated-chinese-families-with-tibial-pseudarthrosis-and-anemia
#19
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
https://www.readbyqxmd.com/read/27978608/a-case-of-eruptive-neurofibroma-in-a-woman-with-neurofibromatosis-during-treatment-with-methotrexate
#20
Giuliana Onnis, Amelia Lissia, Maria A Montesu, Gianluca Erre, Rosanna Satta
No abstract text is available yet for this article.
February 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
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