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https://www.readbyqxmd.com/read/28067895/the-nf1-gene-in-tumor-syndromes-and-melanoma
#1
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/27980226/novel-phenotypes-of-nf1-patients-from-unrelated-chinese-families-with-tibial-pseudarthrosis-and-anemia
#2
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/27941538/nf1-and-neurofibromin-emerging-players-in-the-genetic-landscape-of-desmoplastic-melanoma
#3
Meera Mahalingam
Neurofibromatosis type I (NF1), a monogenic disorder with an autosomal dominant mode of inheritance, is caused by alterations in the NF1 gene which codes for the protein neurofibromin. Functionally, NF1 is a tumor suppressor as it is GTPase-activating protein that negatively regulates the MAPK pathway. More recently, much attention has focused on the role of NF1 and neurofibromin in melanoma as mutations in NF1 have been found to constitute 1 of the 4 distinct genomic categories of melanoma, with the other 3 comprising BRAF, NRAS, and "triple-wild-type" subtypes...
January 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/27827403/mir-107-regulates-tumor-progression-by-targeting-nf1-in-gastric-cancer
#4
Shizhi Wang, Gaoxiang Ma, Haixia Zhu, Chunye Lv, Haiyan Chu, Na Tong, Dongmei Wu, Fulin Qiang, Weida Gong, Qinghong Zhao, Guoquan Tao, Jianwei Zhou, Zhengdong Zhang, Meilin Wang
Our previous genome-wide miRNA microarray study revealed that miR-107 was upregulated in gastric cancer (GC). In this study we aimed to explore its biological role in the pathogenesis of GC. Integrating in silico prediction algorithms with western blotting assays revealed that miR-107 inhibition enhanced NF1 (neurofibromin 1) mRNA and protein levels, suggesting that NF1 is one of miR-107 targets in GC. Luciferase reporter assay revealed that miR-107 suppressed NF1 expression by binding to the first potential binding site within the 3'-UTR of NF1 mRNA...
November 9, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27791021/physical-interaction-between-neurofibromin-and-serotonin-5-ht6-receptor-promotes-receptor-constitutive-activity
#5
Wissem Deraredj Nadim, Séverine Chaumont-Dubel, Fahima Madouri, Laetitia Cobret, Marie-Ludivine De Tauzia, Pawel Zajdel, Hélène Bénédetti, Philippe Marin, Séverine Morisset-Lopez
Active G protein-coupled receptor (GPCR) conformations not only are promoted by agonists but also occur in their absence, leading to constitutive activity. Association of GPCRs with intracellular protein partners might be one of the mechanisms underlying GPCR constitutive activity. Here, we show that serotonin 5 hydroxytryptamine 6 (5-HT6) receptor constitutively activates the Gs/adenylyl cyclase pathway in various cell types, including neurons. Constitutive activity is strongly reduced by silencing expression of the Ras-GTPase activating protein (Ras-GAP) neurofibromin, a 5-HT6 receptor partner...
October 25, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27785414/von-recklinghausen-disease-one-patient-various-problems
#6
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/27773919/high-dose-intravenous-vitamin-c-treatment-of-a-child-with-neurofibromatosis-type-1-and-optic-pathway-glioma-a-case-report
#7
Nina Mikirova, Ronald Hunnunghake, Ruth C Scimeca, Charles Chinshaw, Faryal Ali, Chris Brannon, Neil Riordan
BACKGROUND In neurofibromatosis type 1 (NF1) disease, the loss of the tumor suppressor function of the neurofibromin gene leads to proliferation of neural tumors. In children, the most frequently identified tumor is the optic pathway glioma. CASE REPORT We describe the case of a 5-year-old child who was diagnosed with NF1 and optic pathway tumor onset at the age of 14 months. Because of the tumor progression, chemotherapy with carboplatin and vincristine was prescribed at this early age and continued for one year...
October 24, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27773571/nf1-is-a-direct-g-protein-effector-essential-for-opioid-signaling-to-ras-in-the-striatum
#8
Keqiang Xie, Lesley A Colgan, Maria T Dao, Brian S Muntean, Laurie P Sutton, Cesare Orlandi, Sanford L Boye, Shannon E Boye, Chien-Cheng Shih, Yuqing Li, Baoji Xu, Roy G Smith, Ryohei Yasuda, Kirill A Martemyanov
It is well recognized that G-protein-coupled receptors (GPCRs) can activate Ras-regulated kinase pathways to produce lasting changes in neuronal function. Mechanisms by which GPCRs transduce these signals and their relevance to brain disorders are not well understood. Here, we identify a major Ras regulator, neurofibromin 1 (NF1), as a direct effector of GPCR signaling via Gβγ subunits in the striatum. We find that binding of Gβγ to NF1 inhibits its ability to inactivate Ras. Deletion of NF1 in striatal neurons prevents the opioid-receptor-induced activation of Ras and eliminates its coupling to Akt-mTOR-signaling pathway...
November 21, 2016: Current Biology: CB
https://www.readbyqxmd.com/read/27688987/hypoplastic-internal-carotid-artery-co-presenting-with-neurofibromatosis-and-intracranial-masses
#9
Arvin R Wali, David R Santiago-Dieppa, Jeffrey A Steinberg, Ali Alattar, Vincent J Cheung, Royya Modir, Alexander A Khalessi, J Scott Pannell
Neurofibromatosis type 1 (NF1) is associated with systemic vascular disease, and it can also affect intracranial vasculature in a small percentage of patients. Very rarely, NF1 may co-present with hypoplasia of the internal carotid artery (ICA). Prior reports have documented NF1 with bilateral optic gliomas and a unilateral hypoplastic internal carotid artery; however, we report a case with the aforementioned findings in addition to a right-sided lentiform mass. This case report further suggests a common congenital pathway related to neurofibromin loss of function resulting in both nerve sheath tumors and cerebrovascular anomalies...
August 26, 2016: Curēus
https://www.readbyqxmd.com/read/27622733/neurofibromatosis-type-1-nf1-gene-beyond-caf%C3%A3-au-lait-spots-and-dermal-neurofibromas
#10
Sirkku Peltonen, Roope A Kallionpää, Juha Peltonen
Neurofibromatosis 1 (NF1) occurs in 1:2000 births. The main diagnostic signs are visible on the skin, and this opens several interesting aspects for dermatological point of view. The NF1 syndrome is caused by mutations in the NF1 gene which encodes the tumor suppressor protein neurofibromin. Neurofibromin functions as a Ras-GTPase-activating protein (RasGAP), and NF1 mutations lead to overactivation of the Ras signalling pathway. The NF1 gene and neurofibromin have intriguing functions in keratinocytes and melanocytes...
September 13, 2016: Experimental Dermatology
https://www.readbyqxmd.com/read/27446380/a-novel-alternative-splicing-isoform-of-nf2-identified-in-human-schwann-cells
#11
Fang Su, Zhengguang Zhou, Wen Su, Zishu Wang, Qiong Wu
Vestibular schwannoma (VS) is a benign, slow-growing cranial tumor that originates from the hypertrophy of Schwann cells. The majority of sporadic VS are unilateral, and the mechanisms underlying VS tumorigenesis are not fully understood. The human neurofibromin 2 (NF2) gene encodes the tumor suppressor protein merlin and the NF2 transcript can be alternatively spliced to form numerous isoforms. The present study investigated human Schwann cells (HSCs) at the mRNA and protein level to understand the function of the alternative splicing (AS) isoform of NF2...
August 2016: Oncology Letters
https://www.readbyqxmd.com/read/27402866/nf2-activates-hippo-signaling-and-promotes-ischemia-reperfusion-injury-in-the-heart
#12
Takahisa Matsuda, Peiyong Zhai, Sebastiano Sciarretta, Yu Zhang, Jae Im Jeong, Shohei Ikeda, Jiyeon Park, Chiao-Po Hsu, Bin Tian, Duojia Pan, Junichi Sadoshima, Dominic P Del Re
RATIONALE: NF2 (neurofibromin 2) is an established tumor suppressor that promotes apoptosis and inhibits growth in a variety of cell types, yet its function in cardiomyocytes remains largely unknown. OBJECTIVE: We sought to determine the role of NF2 in cardiomyocyte apoptosis and ischemia/reperfusion (I/R) injury in the heart. METHODS AND RESULTS: We investigated the function of NF2 in isolated cardiomyocytes and mouse myocardium at baseline and in response to oxidative stress...
August 19, 2016: Circulation Research
https://www.readbyqxmd.com/read/27347193/neurofibromatosis-type-1-associated-with-pheochromocytoma-and-gastrointestinal-stromal-tumors-a-case-report-and-literature-review
#13
Dongfeng Pan, Peifeng Liang, Hongyan Xiao
Neurofibromatosis type 1 (NF1) is a genetic disorder associated with neurofibromin 1 (NF1) gene mutation, which generates an increased risk of variety of tumor types. The current study reports a case involving NF1, pheochromocytoma (PHEO) and gastrointestinal stromal tumors (GIST). A 56-year-old man presented with abdominal pain and polypnea. Clinical investigation revealed multiple diffuse soft-tissue lesions throughout his body, and pigmented macules on the skin. Imaging analyses revealed thoracic scoliosis, multiple subcutaneous nodules in the abdomen and trunk, and a 7...
July 2016: Oncology Letters
https://www.readbyqxmd.com/read/27345978/generation-of-kcl025-research-grade-human-embryonic-stem-cell-line-carrying-a-mutation-in-nf1-gene
#14
Heema Hewitson, Victoria Wood, Neli Kadeva, Glenda Cornwell, Stefano Codognotto, Emma Stephenson, Dusko Ilic
The KCL025 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation in the NF1 gene encoding neurofibromin (c.3739-3742 ΔTTTG). Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The ICM was isolated using laser microsurgery and plated on γ-irradiated human foreskin fibroblasts. Both the derivation and cell line propagation were performed in an animal product-free environment...
March 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27345975/generation-of-kcl024-research-grade-human-embryonic-stem-cell-line-carrying-a-mutation-in-nf1-gene
#15
Heema Hewitson, Victoria Wood, Neli Kadeva, Glenda Cornwell, Stefano Codognotto, Emma Stephenson, Dusko Ilic
The KCL024 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation in the NF1 gene encoding neurofibromin (c.3739-3742 ∆TTTG). Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The ICM was isolated using laser microsurgery and plated on γ-irradiated human foreskin fibroblasts. Both the derivation and cell line propagation were performed in an animal product-free environment...
March 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27313208/the-neurofibromin-recruitment-factor-spred1-binds-to-the-gap-related-domain-without-affecting-ras-inactivation
#16
Theresia Dunzendorfer-Matt, Ellen L Mercado, Karl Maly, Frank McCormick, Klaus Scheffzek
Neurofibromatosis type 1 (NF1) and Legius syndrome are related diseases with partially overlapping symptoms caused by alterations of the tumor suppressor genes NF1 (encoding the protein neurofibromin) and SPRED1 (encoding sprouty-related, EVH1 domain-containing protein 1, Spred1), respectively. Both proteins are negative regulators of Ras/MAPK signaling with neurofibromin functioning as a Ras-specific GTPase activating protein (GAP) and Spred1 acting on hitherto undefined components of the pathway. Importantly, neurofibromin has been identified as a key protein in the development of cancer, as it is genetically altered in a large number of sporadic human malignancies unrelated to NF1...
July 5, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27266634/neurofibromin-is-a-novel-regulator-of-ras-induced-reactive-oxygen-species-production-in-mice-and-humans
#17
Waylan K Bessler, Farlyn Z Hudson, Hanfang Zhang, Valerie Harris, Yusi Wang, Julie A Mund, Brandon Downing, David A Ingram, Jamie Case, David J Fulton, Brian K Stansfield
Neurofibromatosis type 1 (NF1) predisposes individuals to early and debilitating cardiovascular disease. Loss of function mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin, leads to accelerated p21(Ras) activity and phosphorylation of multiple downstream kinases, including Erk and Akt. Nf1 heterozygous (Nf1(+/-)) mice develop a robust neointima that mimics human disease. Monocytes/macrophages play a central role in NF1 arterial stenosis as Nf1 mutations in myeloid cells alone are sufficient to reproduce the enhanced neointima observed in Nf1(+/-) mice...
August 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27263935/neurofibromatosis-type-1-associated-low-grade-gliomas-a-comparison-with-sporadic-low-grade-gliomas
#18
REVIEW
Jelte Helfferich, Ronald Nijmeijer, Oebele F Brouwer, Maartje Boon, Annemarie Fock, Eelco W Hoving, Lisethe Meijer, Wilfred F A den Dunnen, Eveline S J M de Bont
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder, associated with a variable clinical phenotype including café-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic pathway gliomas and distinctive bony lesions. NF1 is caused by a mutation in the NF1 gene, which codes for neurofibromin, a large protein involved in the MAPK- and the mTOR-pathway through RAS-RAF signalling. NF1 is a known tumour predisposition syndrome, associated with different tumours of the nervous system including low grade gliomas (LGGs) in the paediatric population...
August 2016: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/27234610/a-novel-mutation-in-nf1-is-associated-with-diverse-intra-familial-phenotypic-variation-and-astrocytoma-in-a-chinese-family
#19
Santasree Banerjee, Yi Dai, Shengran Liang, Huishuang Chen, Yanyan Wang, Lihui Tang, Jing Wu, Hui Huang
Neurofibromatosis type 1 (NF1) is a dysregulated neurocutaneous disorder, characterized by neurofibromas and café-au-lait spots. NF1 is caused by mutations in the NF1 gene, encoding neurofibromin. Here, we present a clinical molecular study of a three-generation Chinese family with NF1. The proband was a male patient who showed café-au-lait spots and multiple subcutaneous neurofibromas over the whole body, but his siblings only had regional lesions. The man's daughter presented with severe headache and vomiting...
September 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27229317/nherf1-ebp50-and-nf2-as-diagnostic-markers-for-choroid-plexus-tumors
#20
Maria-Magdalena Georgescu, Bret C Mobley, Brent A Orr, Ping Shang, Norman L Lehman, Xiaoping Zhu, Thomas J O'Neill, Veena Rajaram, Kimmo J Hatanpaa, Charles F Timmons, Jack M Raisanen
The adaptor protein NHERF1 (Na/H exchanger-3 regulatory factor-1) and its associated ezrin-radixin-moesin-merlin/neurofibromin-2 (ERM-NF2) family proteins are required for epithelial morphogenesis and have been implicated in cancer progression. NHERF1 is expressed in ependymal cells and constitutes a highly sensitive diagnostic marker for ependymoma, where it labels membrane polarity structures. Since NHERF1 and ERM-NF2 proteins show polarized expression in choroid plexus (CP) cells, we tested their diagnostic utility in CP neoplasms...
2016: Acta Neuropathologica Communications
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