keyword
MENU ▼
Read by QxMD icon Read
search

Neurofibromatosis type 2

keyword
https://www.readbyqxmd.com/read/28502478/the-cellular-retinoic-acid-binding-protein-2-promotes-survival-of-malignant-peripheral-nerve-sheath-tumor-cells
#1
Susan Fischer-Huchzermeyer, Anna Dombrowski, Christian Hagel, Victor Felix Mautner, Jens Schittenhelm, Anja Harder
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive neoplasms that commonly occur in patients with neurofibromatosis type 1 (NF1). Effective chemotherapy is not available. To characterize a therapeutic target for treatment, we investigated the role of cellular retinoic acid binding protein 2 (CRABP2) in MPNST in vitro. CRABP2 is a transcriptional co-activator of retinoic acid signaling. Although overexpression of CRABP2 is described in several cancers, it has not yet been studied in MPNSTs. We investigated CRABP2 expression in cultured Schwann cells and formalin-fixed, paraffin-embedded specimens of human peripheral nerve sheath tumors...
May 11, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28474160/-hereditary-tumor-syndromes-in-neuropathology
#2
REVIEW
C Mawrin
Neoplasms in the central (CNS) and peripheral nervous system (PNS) in hereditary tumor syndromes play an important role in the neuropathological diagnostics. The benign and malignant PNS and CNS tumors that occur in the frequent neurofibromatosis type 1 (NF1) and type 2 (NF2) often represent essential factors for the course of the disease in those affected. Furthermore, certain clinical constellations (e.g. bilateral schwannomas of the auditory nerve, schwannomas at a young age and multiple meningiomas) can be important indications for a previously undiagnosed hereditary tumor disease...
May 4, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28469964/comprehensive-pharmacological-profiling-of-neurofibromatosis-cell-lines
#3
Jianman Guo, Michael R Grovola, Hong Xie, Grace E Coggins, Patrick Duggan, Rukhsana Hasan, Jiale Huang, Danny W Lin, Claire Song, Gabriela M Witek, Simon Berritt, David C Schultz, Jeffrey Field
Patients with Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are predisposed to tumors of the nervous system. NF1 patients predominantly develop neurofibromas, and Malignant Peripheral Nerve Sheath Tumors (MPNST) while NF2 patients develop schwannomas and meningiomas. Here we quantified the drug sensitivities of NF1 and NF2 tumor cell lines in a high throughput platform. The platform contained a comprehensive collection of inhibitors of MEK, RAF, RAS, farnesyl transferase, PAK and ERK, representative drugs against many other cancer pathways including Wnt, Hedgehog, p53, EGF, HDAC, as well as classical cytotoxic agents recommended for treating MPNST, such as doxorubicin and etoposide...
2017: American Journal of Cancer Research
https://www.readbyqxmd.com/read/28469506/genotype-phenotype-correlation-in-patients-with-germline-mutations-of-vhl-ret-sdhb-and-sdhd-genes-thai-experience
#4
Chutintorn Sriphrapradang, Kitjapong Choopun, Atchara Tunteeratum, Thanyachai Sura
Mutations in the VHL, RET, SDHB, and SDHD genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. We found 35 patients diagnosed with clinical syndromes (16 VHL, 9 MEN2, 9 paragangliomas, and 1 neurofibromatosis type 1). In patients with VHL, 5 known VHL mutations were identified: p...
2017: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/28468780/combined-inhibition-of-nedd8-activating-enzyme-and-mtor-suppresses-nf2-loss-driven-tumorigenesis
#5
Jonathan Cooper, Qingwen Xu, Lu Zhou, Milica Pavlovic, Virginia Ojeda, Kamalika Moulick, Elisa de Stanchina, J T Poirier, Marjorie Zauderer, Charles M Rudin, Matthias A Karajannis, C Oliver Hanemann, Filippo G Giancotti
Inactivation of NF2/Merlin causes the autosomal dominant cancer predisposition syndrome Familial Neurofibromatosis Type 2 (NF2) and contributes to the development of malignant pleural mesothelioma (MPM). In order to develop a targeted therapy for NF2-mutant tumors, we have exploited the recent realization that Merlin loss drives tumorigenesis by activating the E3 ubiquitin ligase CRL4(DCAF1) - thereby inhibiting the Hippo pathway component Lats. Here, we show that MLN4924 - a NEDD8 activating enzyme (NAE) inhibitor - suppresses CRL4(DCAF1) and attenuates activation of YAP in NF2-mutant tumor cells...
May 3, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28449809/genomic-diagnostics-leading-to-the-identification-of-a-tfg-ros1-fusion-in-a-child-with-possible-atypical-meningioma
#6
Maria Rossing, Christina Westmose Yde, Astrid Sehested, Olga Østrup, David Scheie, Volodia Dangouloff-Ros, Birgit Geoerger, Gilles Vassal, Karsten Nysom
Meningiomas are rare in children. They are highly complex, harboring unique clinical and pathological characteristics, and many occur in patients with neurofibromatosis type 2. Hereby, we present a case of a two-year-old boy presented with a diagnostically challenging intraventricular tumor. It was incompletely resected 6 times over 14 months but kept progressing and was ultimately deemed unresectable. Histologically, the tumor was initially classified as schwannoma, but extensive international review concluded it was most likely an atypical meningioma, WHO grade II...
April 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28445745/increased-tissue-stiffness-in-tumors-from-mice-with-neurofibromatosis-1-optic-glioma
#7
Christopher Walter, Lindsey Crawford, Melinda Lai, Joseph A Toonen, Yuan Pan, Shelly Sakiyama-Elbert, David H Gutmann, Amit Pathak
Children with neurofibromatosis type 1 (NF1) cancer predisposition syndrome are prone to the development of low-grade brain tumors (gliomas) within the optic pathway (optic gliomas). One of the key obstacles to developing successful therapeutic strategies for these tumors is the striking lack of information about the mechanical properties that characterize these tumors relative to non-neoplastic optic nerve tissue. To study the physical changes that may occur when an optic nerve glioma is present, we employed atomic force microscopy to measure the stiffness of healthy versus tumor-bearing optic nerve tissue...
April 25, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28441508/cyberknife-for-treatment-of-vestibular-schwannoma-a-meta-analysis
#8
Hossein Mahboubi, Ronald Sahyouni, Omid Moshtaghi, Kent Tadokoro, Yaser Ghavami, Kasra Ziai, Harrison W Lin, Hamid R Djalilian
Objectives (1) Perform a meta-analysis of the available data on the outcomes of CyberKnife radiosurgery for treatment of vestibular schwannomas (VSs) in the published English-language literature and (2) evaluate the collective outcomes of CyberKnife treatment with respect to tumor control and hearing preservation. Data Sources A thorough literature search of published English-language articles was performed in the PubMed, Ovid, and Cochrane databases. Review Methods A database search was conducted with the keywords "CyberKnife" and "vestibular schwannoma" or "acoustic neuroma...
April 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28438404/quantitative-ultrasound-and-tibial-dysplasia-in-neurofibromatosis-type-1
#9
David A Stevenson, Heather Hanson, Austin Stevens, John Carey, David Viskochil, Xiaoming Sheng, Karen Wheeler, Hillarie Slater
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder associated with unilateral anterolateral bowing with subsequent fracture and nonunion. In infancy, physiologic bowing of the lower leg can be confused with pathologic tibial dysplasia in NF1. Little is known about the bone physiology of the tibiae prior to fracture or predictors of fracture. The aim of this study was to characterize bone quality of bowed tibiae prior to fracture in NF1 using quantitative ultrasound (QUS). Bone quality was assessed on both tibiae (the non-bowed and bowed tibiae) using QUS to measure speed of sound (SOS) at the mid-shaft in 23 individuals with NF1...
April 21, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28436162/the-path-forward-2015-international-children-s-tumor-foundation-conference-on-neurofibromatosis-type-1-type-2-and-schwannomatosis
#10
Jaishri O Blakeley, Annette Bakker, Anne Barker, Wade Clapp, Rosalie Ferner, Michael J Fisher, Marco Giovannini, David H Gutmann, Matthias A Karajannis, Joseph L Kissil, Eric Legius, Alison C Lloyd, Roger J Packer, Vijaya Ramesh, Vincent M Riccardi, David A Stevenson, Nicole J Ullrich, Meena Upadhyaya, Anat Stemmer-Rachamimov
The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features rare tumors such as glioma, meningioma, sarcoma, and neuroblastoma that occur both within these syndromes and spontaneously; associated with somatic mutations in NF1, NF2, and SWN. The meeting addresses both state of the field for current clinical care as well as emerging preclinical models fueling discovery of new therapeutic targets and discovery science initiatives investigating mechanisms of tumorigenesis...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28429859/aneurysms-in-neurofibromatosis-type-2-evidence-for-vasculopathy
#11
Shazia K Afridi, Suki Thomson, Steve E J Connor, Daniel C Walsh, Rosalie E Ferner
There have been anecdotal reports of vasculopathy associated with Neurofibromatosis Type 2 (NF2). Given the increasing use of bevacizumab, a vascular endothelial growth factor inhibitor which results in an increased risk of bleeding, it is important to ascertain if there is a predisposition to vascular abnormalities in NF2. In our unit NF2 patients undergo annual MRI brain and internal auditory meatus imaging. We noted incidental intracranial aneurysms in some patients and sought to determine the prevalence of intracranial aneurysms in our cohort of NF2 patients...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28427224/ponatinib-promotes-a-g1-cell-cycle-arrest-of-merlin-nf2-deficient-human-schwann-cells
#12
Alejandra M Petrilli, Jeanine Garcia, Marga Bott, Stephani Klingeman Plati, Christine T Dinh, Olena R Bracho, Denise Yan, Bing Zou, Rahul Mittal, Fred F Telischi, Xue-Zhong Liu, Long-Sheng Chang, D Bradley Welling, Alicja J Copik, Cristina Fernández-Valle
Neurofibromatosis type 2 (NF2) is a genetic syndrome that predisposes individuals to multiple benign tumors of the central and peripheral nervous systems, including vestibular schwannomas. Currently, there are no FDA approved drug therapies for NF2. Loss of function of merlin encoded by the NF2 tumor suppressor gene leads to activation of multiple mitogenic signaling cascades, including platelet-derived growth factor receptor (PDGFR) and SRC in Schwann cells. The goal of this study was to determine whether ponatinib, an FDA-approved ABL/SRC inhibitor, reduced proliferation and/or survival of merlin-deficient human Schwann cells (HSC)...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28425622/targeted-disruption-of-nf1-in-osteocyte-increases-fgf23-and-osteoid-with-osteomalacia-like-bone-phenotype
#13
Nobuhiro Kamiya, Ryosuke Yamaguchi, Olumide Aruwajoye, Audrey Kim, Gen Kuroyanagi, Matthew Phipps, Naga Suresh Adapala, Jian Q Feng, Harry K W Kim
Neurofibromatosis type 1 (NF1, OMIM 162200), caused by NF1 gene mutations, exhibits multi-system abnormalities including skeletal deformities in humans. Osteocytes play critical roles in controlling bone modeling and remodeling. However, the role of neurofibromin, the protein product of the NF1 gene, in osteocytes is largely unknown. This study investigated the role of neurofibromin in osteocytes by disrupting Nf1 under the Dmp1-promoter. The conditional knockout (Nf1 cKO) mice displayed serum profile of a metabolic bone disorder with an osteomalacia-like bone phenotype...
April 20, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28422438/moyamoya-syndrome-in-children-with-neurofibromatosis-type-1-italian-french-experience
#14
Claudia Santoro, Federico Di Rocco, Manoelle Kossorotoff, Michel Zerah, Nathalie Boddaert, Raphael Calmon, Dominique Vidaud, Mario Cirillo, Giuseppe Cinalli, Giuseppe Mirone, Teresa Giugliano, Giulio Piluso, Alessandra D'Amico, Valeria Capra, Marco Pavanello, Armando Cama, Bruno Nobili, Stanislas Lyonnet, Silverio Perrotta
Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibromatosis type 1 (NF1). In this study, we clinically, radiologically, and genetically examined a cohort that was not previously described, comprising European children with NF1 and MMS. The NF1 genotyping had been registered. This study included 18 children. The mean age was 2.93 ± 3.03 years at the NF1 diagnosis and 7.43 ± 4.27 years at the MMS diagnosis. In seven patients, MMS was diagnosed before or at the same time as NF1...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28420320/pediatric-non-vestibular-schwannoma
#15
Cory Broehm, Alyaa Al-Ibraheemi, Karen J Fritchie
While the clinicopathologic features of pediatric vestibular schwannomas, often in the context of neurofibromatosis type 2 (NF2), have been well studied, there is less data regarding the characteristics of pediatric non-vestibular schwannomas (NVS). Additionally, the rate of loss of SMARCB1/INI1 expression in this population has not been systematically evaluated. Our institutional archives were searched for cases of NVS arising in patients 18 years or younger. Clinicopathologic features including SMARCB1/INI1 status were assessed for each case...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28413544/abdominal-schwannoma-in-a-case-of-neurofibromatosis-type-2-a-report-of-a-rare-combination
#16
Khandkar Ali Kawsar, Md Raziul Haque, Forhad Hossain Chowdhury
Neurofibromatosis-2 (NF2) is an autosomal-dominant disease, which is characterized by vestibular schwannomas (VSs) (acoustic neurinoma) as well as tumours of the peripheral and central nervous system, demonstrating a variety of expression. A 12-year-old girl presented to us with headache and ataxia for four months. We examined and found a lump in the right side of her abdomen. On magnetic resonance imaging (MRI) of brain, a bilateral VS at the cerebellopontine (CP) angle was detected, and on computerized tomography (CT) scan and ultrasonography of her abdomen a large retroperitoneal schwannoma was revealed in the right side of her abdomen...
January 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28409885/long-term-results-of-the-transmanubrial-osteomuscular-sparing-approach-for-pediatric-tumors
#17
Aziz El Madi, Sabine Irtan, Frédérique Sauvat, Michel Zérah, Gudrun Schleiermacher, Louise Galmiche-Roland, Véronique Minard-Colin, Hervé Brisse, Sabine Sarnacki
BACKGROUND: The complete and safe resection of pediatric cervicothoracic tumors, mostly represented by neurogenic tumors, remains a surgical challenge because of the complex anatomy of this region. The transmanubrial osteomuscular-sparing approach (TOSA) is an alternative to isolated or combined cervical and thoracic approaches enabling the control of supra-aortic vessels and nerves through the thoracic inlet. METHODS: We retrospectively reviewed the tumor characteristics, completeness of resection, morbidity, and long-term outcome of patients with cervicothoracic tumors removed by TOSA between 2000 and 2012 in our institution...
April 14, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28398289/a-high-throughput-molecular-data-resource-for-cutaneous-neurofibromas
#18
Sara J C Gosline, Hubert Weinberg, Pamela Knight, Thomas Yu, Xindi Guo, Nripesh Prasad, Angela Jones, Shristi Shrestha, Braden Boone, Shawn E Levy, Salvatore La Rosa, Justin Guinney, Annette Bakker
Neurofibromatosis type 1 (NF1) is a genetic disorder with a range of clinical manifestations such as widespread growth of benign tumours called neurofibromas, pain, learning disorders, bone deformities, vascular abnormalities and even malignant tumours. With the establishment of the Children's Tumour Foundation biobank, neurofibroma samples can now be collected directly from patients to be analysed by the larger scientific community. This work describes a pilot study to characterize one class of neurofibroma, cutaneous neurofibromas, by molecularly profiling of ~40 cutaneous neurofibromas collected from 11 individual patients...
April 11, 2017: Scientific Data
https://www.readbyqxmd.com/read/28394552/multiple-intracranial-schwannomas-case-report
#19
Mario Mihalj, Krešimir Dolić, Pavao Jurinović, Nikolina Ivica Miše, Marina Titlić, Irena Pintarić
Schwannomas are benign encapsulated tumors arising from the sheaths of peripheral nerves. They present as slowly enlarging solitary lumps, which may cause neurological defects. Multiple schwannomas in non-neurofi bromatosis type 2 patients are extremely rare. We report a case of a 60-year-old female patient, without any family history of neurofibromatosis or schwannomatosis, presented with trigeminal neuralgia and progressive facial nerve palsy. Magnetic resonance imaging revealed the presence of acoustic schwannoma involving facial nerve and trigeminal schwannoma of the cisternal part of the nerve involving gasserian ganglion (Meckel’s cave)...
June 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/28378438/legius-syndrome-a-case-report
#20
Ryoko Kimura, Yuichi Yoshida, Ryo Maruoka, Kenjiro Kosaki, Osamu Yamamoto
Legius syndrome is a rare genetic disorder caused by heterozygous germ line loss-of-function SPRED1 mutation. In Japan, a family with Legius syndrome was first described in 2015 by Sakai et al. We described a first solitary case of Legius syndrome identified by next-generation sequencing in Japan. A 37-year-old woman presented with multiple café-au-lait macules and freckles but has no other features of neurofibromatosis type 1 (NF-1). Sequencing results showed the presence of a mutation in exon 2 of SPRED1 c...
April 2017: Journal of Dermatology
keyword
keyword
35894
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"