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Neurofibromatosis Type 1

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Genetic analyses of mosaic neurofibromatosis type 1 with giant café-au-lait macule, plexiform neurofibroma and multiple melanocytic nevi.

Tokimasa Hida, Masashi Idogawa, Masae Okura, Shintaro Sugita, Taro Sugawara, Yasushi Sasaki, Takashi Tokino, Toshiharu Yamashita, Hisashi Uhara,

Neurofibromatosis type 1 (NF1) is a genodermatosis caused by heterozygous germ line variations in the NF1 gene. A second-hit NF1 aberration results in the formation of café-au-lait macules, cutaneous neurofibroma and plexiform neurofibroma (PNF). Mosaic NF1 (mNF1), caused by a postzygotic NF1 mutation, is characterized by localized or generalized NF1-related ... Read more >>

J. Dermatol. (The Journal of dermatology)
[2020, :]

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New Frontiers in Therapy of Peripheral Nerve Sheath Tumors in Patients With Neurofibromatosis Type 1: Latest Evidence and Clinical Implications.

Agata Marjanska, Przemyslaw Galazka, Mariusz Wysocki, Jan Styczynski,

Almost all individuals with neurofibromatosis type 1 (NF1) develop peripheral nerve sheath tumors (PNSTs), mainly benign neurofibromas, however about 10% of PNSTs will undergo transformation to malignant peripheral nerve sheath tumors (MPNSTs). Surgical treatment of PNSTs has traditionally been regarded as a standard approach. The availability of new agents that ... Read more >>

Anticancer Res. (Anticancer research)
[2020, 40(4):1817-1831]

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Correction to: An update on the CNS manifestations of neurofibromatosis type 2.

Shannon Coy, Rumana Rashid, Anat Stemmer-Rachamimov, Sandro Santagata,

The article An update on the CNS manifestations of neurofibromatosis type 2, written by Shannon Coy, Rumana Rashid, Anat Stemmer‑Rachamimov and Sandro Santagata, was originally published electronically on the publisher's internet portal (currently SpringerLink) on 04 June 2019 without open access. ... Read more >>

Acta Neuropathol. (Acta neuropathologica)
[2020, 139(4):667]

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A Phase II Study of Continuous Oral mTOR Inhibitor Everolimus for Recurrent, Radiographic-Progressive Neurofibromatosis Type 1-Associated Pediatric Low-Grade Glioma: A Neurofibromatosis Clinical Trials Consortium Study.

Nicole J Ullrich, Sanjay P Prabhu, Alyssa T Reddy, Michael J Fisher, Roger Packer, Stewart Goldman, Nathan J Robison, David H Gutmann, David H Viskochil, Jeffrey C Allen, Bruce Korf, Alan Cantor, Gary Cutter, Coretta Thomas, John P Perentesis, Tomoyuki Mizuno, Alexander A Vinks, Peter E Manley, Susan N Chi, Mark W Kieran, ,

BACKGROUND:Activation of the mTOR pathway is observed in neurofibromatosis type 1 (NF1) associated low grade gliomas (LGGs), but agents that inhibit this pathway, including mTOR inhibitors, have not been studied in this population. We evaluate the efficacy of the orally administered mTOR inhibitor everolimus for radiographically-progressive NF1-associated pediatric LGGs. METHODS:Children ... Read more >>

Neuro-oncology (Neuro-oncology)
[2020, :]

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Brain-wide structural and functional disruption in mice with oligodendrocyte specific Nf1 deletion is rescued by inhibition of NOS

Jad Asleh, Ben Shofty, Nadav Cohen, Alexandra Kavushansky, Alejandro López-Juárez, Shlomi Constantini, Nancy Ratner, Itamar Kahn,

Abstract Neurofibromin gene ( NF1 ) mutation causes Neurofibromatosis type 1 (NF1), a disorder in which brain white matter deficits identified by neuroimaging are common, yet of unknown cellular etiology. In mice, Nf1 loss in adult oligodendrocyte causes myelin decompaction, and increases oligodendrocyte nitric oxide (NO) levels. Nitric oxide synthase ... Read more >>

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Co-occurrence of multiple endocrine neoplasia type 4 and spinal neurofibromatosis: a case report.

Pamela Brock, Jean Bustamante Alvarez, Amir Mortazavi, Sameek Roychowdhury, John Phay, Raheela A Khawaja, Manisha H Shah, Bhavana Konda,

Multiple Endocrine Neoplasia (MEN) type 4 is a rare genetic condition that results from variants of the CDKN1B gene and predisposes individuals to develop endocrine tumors. Spinal neurofibromatosis (SNF) is an uncommon subtype of neurofibromatosis type 1 (NF1) characterized by bilateral neurofibromas of all spinal roots. Here we report a ... Read more >>

Fam. Cancer (Familial cancer)
[2020, 19(2):189-192]

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Contextualizing the Modern Epidemiology of Neurofibromatosis Type 2 in an Era of Heightened Detection of Sporadic Vestibular Schwannoma.

Eric M Dowling, John P Marinelli, Christine M Lohse, Matthew L Carlson,

OBJECTIVE:Closely paralleling previous radiologic studies, recent population-based prevalence data suggest sporadic vestibular schwannoma (VS) affects over one in 2,000 adults and up to one in 500 in those aged 70 years or older. Attributable to increased utilization of magnetic resonance imaging and screening protocols for asymmetrical sensorineural hearing loss, the ... Read more >>

Otol. Neurotol. (Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology)
[2020, 41(4):e501-e506]

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Grade V thoracic spondylolisthesis in neurofibromatosis type-1: a case report and literature review.

Wei Yuan, Ruochen Zhang, Lei Pei, Yue Zhu,

BACKGROUND:Grade V thoracic spondylolisthes is secondary to neurofibromatosis type-1(NF-1), especially combined with vertebral fusion, is rare. We reported a case of a 26 year-old female diagnosed with grade V T2spondylolisthesis and T2-T5 autofusion secondary to NF-1, which caused severe kyphotic deformity and neurological deficits, and she was treated with posterior ... Read more >>

World Neurosurg (World neurosurgery)
[2020, :]

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Factors associated with parental knowledge of neurofibromatosis type 1 (NF1): Parental affected status and genetic counseling.

Emily P Solem, Michelle Primiano, Marshall P McQuillen, Monika Zak Goelz,

Neurofibromatosis type 1 (NF1) is a genetic condition characterized by various cutaneous, neurological and psychological manifestations. The present study examined whether parental knowledge of NF1 is associated with a parent's NF1 status, affected or unaffected, and exposure to genetic counseling. Parents of children with NF1 were invited to complete an ... Read more >>

J Genet Couns (Journal of genetic counseling)
[2020, :]

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Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations.

Corina Anastasaki, Michelle L Wegscheid, Kelly Hartigan, Jason B Papke, Nathan D Kopp, Jiayang Chen, Olivia Cobb, Joseph D Dougherty, David H Gutmann,

Neurofibromatosis type 1 (NF1) is a common neurodevelopmental disorder caused by a spectrum of distinct germline NF1 gene mutations, traditionally viewed as equivalent loss-of-function alleles. To specifically address the issue of mutational equivalency in a disease with considerable clinical heterogeneity, we engineered seven isogenic human induced pluripotent stem cell lines, ... Read more >>

Stem Cell Reports (Stem cell reports)
[2020, :]

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Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes.

Jonathan M Payne, Karin S Walsh, Natalie A Pride, Kristina M Haebich, Alice Maier, Anita Chisholm, Danielle M Glad, Christina L Casnar, Melissa Rouel, Jennifer Lorenzo, Allison Del Castillo, Kathryn N North, Bonita Klein-Tasman,

AIM:We examined key features of two outcome measures for social dysfunction and autism spectrum disorder traits, the Social Responsiveness Scale, Second Edition (SRS-2) and the Social Skills Improvement System - Rating Scales (SSIS-RS), in children with neurofibromatosis type 1 (NF1). The aim of the study was to provide objective evidence ... Read more >>

Dev Med Child Neurol (Developmental medicine and child neurology)
[2020, :]

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Optic pathway glioma with intraocular extension in a child with neurofibromatosis type-1.

F Palma-Carvajal, H González-Valdivia, J P Figueroa-Vercellino, C Saavedra-Gutiérrez, C Rovira-Zurriaga, J Prat-Bartomeu,

J Fr Ophtalmol (Journal francais d'ophtalmologie)
[2020, :]

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A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management.

Christopher Murphy, Grace Vassallo, Emma Burkitt-Wright, Eileen Hupton, Judith Eelloo, Lauren Lewis, Susan Huson, Stavros Stivaros, Ian Kamaly-Asl,

OBJECTIVES:Aqueduct stenosis (AS) and fourth ventricle outflow obstruction are rare associations of neurofibromatosis type 1 (NF1), resulting in ventriculomegaly and hydrocephalus requiring surgical treatment. This study aims to identify the prevalence of AS and its patterns of clinical presentation, aetiology and treatment in the paediatric complex NF1 population. PATIENTS AND ... Read more >>

Clin Neurol Neurosurg (Clinical neurology and neurosurgery)
[2020, 193:105791]

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Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.

V Dunnett-Kane, E Burkitt-Wright, F H Blackhall, A Malliri, G Evans, C R Lindsay,

Somatic mutations in RAS and related pathway genes such as NF1 have been strongly implicated in the development of cancer whilst also being implicated in a diverse group of developmental disorders named the "RASopathies"; including Neurofibromatosis 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML), Costello syndrome (CS), ... Read more >>

Ann. Oncol. (Annals of oncology : official journal of the European Society for Medical Oncology)
[2020, :]

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Massive spontaneous haemoperitoneum in a post-partum patient with neurofibromatosis type 1.

M D Sánchez-Contreras, C Sánchez-Andrés, M Valiente Mateos, G Ayas Faus, V Domingo Triadó,

Neurofibromatosis type 1 (NF-1) or von Recklinghausen's disease is a genetic, progressive, multi-system disease that predominantly affects the skin and nervous system. Vascular involvement is rare, but can have catastrophic results. Pregnant patients with this disease need careful, multidisciplinary follow up in order to control possible vascular alterations, which usually ... Read more >>

Rev Esp Anestesiol Reanim (Revista espanola de anestesiologia y reanimacion)
[2020, :]

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Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome.

Paola Cianci, Laura Pezzoli, Silvia Maitz, Massimo Agosti, Maria Iascone, Angelo Selicorni,

Clin. Dysmorphol. (Clinical dysmorphology)
[2020, 29(2):101-103]

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Predictors of pain-related functional impairment among people living with HIV on long-term opioid therapy.

David P Serota, Christine Capozzi, Sara Lodi, Jonathan A Colasanti, Leah S Forman, Judith I Tsui, Alexander Y Walley, Marlene C Lira, Jeffrey Samet, Carlos Del Rio, Jessica S Merlin,

People living with HIV (PLWH) have high levels of functional impairment due to pain, also called pain interference. Long-term opioid therapy (LTOT) is commonly prescribed for chronic pain among PLWH. We sought to better understand the predictors of pain interference, measured with the Brief Pain Inventory Interference subscale (BPI-I), among ... Read more >>

AIDS Care (AIDS care)
[2020, :1-9]

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Upregulated immuno-modulator PD-L1 in malignant peripheral nerve sheath tumors provides a potential biomarker and a therapeutic target.

Said Farschtschi, Lan Kluwe, Su-Jin Park, Su-Jun Oh, Nancy Mah, Victor-Felix Mautner, Andreas Kurtz,

BACKGROUND:Malignant peripheral nerve sheath tumors (MPNSTs) are rare aggressive sarcomas with poor prognosis. More than half of MPNSTs develop from benign precursor tumors associated with neurofibromatosis type 1 (NF1) which is a tumor suppressor gene disorder. Early detection of malignant transformation in NF1 patients is pivotal to improving survival. The ... Read more >>

Cancer Immunol. Immunother. (Cancer immunology, immunotherapy : CII)
[2020, :]

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A case of jejunal neurofibroma in von Recklinghausen's disease with active hemorrhage, detected and located with gastrointestinal bleeding scintigraphy: A case report with literature review.

Miloš Stević, Marina Vlajković, Filip Veličković, Goran Stanojević, Milica Nestorović, Filip Petrović,

A 69 year old patient was admitted to hospital with massive gastrointestinal hemorrhage. The clinical presentation of the patient, except for bleeding, was dominated by the presence of neurofibromatosis type 1 - Von Recklinghausen disease. The patient was referred to multislice computed tomography (CT) angiography, magnetic resonance imaging (MRI), esophagogastroduodenoscopy ... Read more >>

Hell J Nucl Med (Hellenic journal of nuclear medicine)
[2020, :]

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Neurofibromin Is an Estrogen Receptor-α Transcriptional Co-repressor in Breast Cancer.

Ze-Yi Zheng, Meenakshi Anurag, Jonathan T Lei, Jin Cao, Purba Singh, Jianheng Peng, Hilda Kennedy, Nhu-Chau Nguyen, Yue Chen, Philip Lavere, Jing Li, Xin-Hui Du, Burcu Cakar, Wei Song, Beom-Jun Kim, Jiejun Shi, Sinem Seker, Doug W Chan, Guo-Qiang Zhao, Xi Chen, Kimberly C Banks, Richard B Lanman, Maryam Nemati Shafaee, Xiang H-F Zhang, Suhas Vasaikar, Bing Zhang, Susan G Hilsenbeck, Wei Li, Charles E Foulds, Matthew J Ellis, Eric C Chang,

We report that neurofibromin, a tumor suppressor and Ras-GAP (GTPase-activating protein), is also an estrogen receptor-α (ER) transcriptional co-repressor through leucine/isoleucine-rich motifs that are functionally independent of GAP activity. GAP activity, in turn, does not affect ER binding. Consequently, neurofibromin depletion causes estradiol hypersensitivity and tamoxifen agonism, explaining the poor ... Read more >>

Cancer Cell (Cancer cell)
[2020, 37(3):387-402.e7]

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Legius Syndrome and its Relationship with Neurofibromatosis Type 1.

Ellen Denayer, Eric Legius,

Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or malignant peripheral nerve sheath tumours. Legius syndrome is a less frequent autosomal dominant disorder with ... Read more >>

Acta Derm. Venereol. (Acta dermato-venereologica)
[2020, 100(7):adv00093]

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A rare case report of neurofibromatosis type 1 in a 12-year-old child: A 15-month follow-up.

Srinivas Nallanchakrava, Manoj Kumar Mallela, V Shiva Kumar Jeenepalli, H M Niharika,

Neurofibromatosis type 1 (NF-1) or von Recklinghausen's disease is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas). Head-and-neck neurofibroma is generally located in the soft tissue. Here, we present a case of a 12-year-old girl with NF-1. The disease started ... Read more >>

J Oral Maxillofac Pathol (Journal of oral and maxillofacial pathology : JOMFP)
[2020, 24(Suppl 1):S106-S109]

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[Hereditary predisposition to tumors of the central and peripheral nervous systems].

Baptiste Sourty, Audrey Rousseau,

Some tumors of the central and peripheral nervous system may be associated with a cancer predisposition syndrome, either hereditary or occurring de novo. Such a syndrome is usually associated with multiple tumors occurring early in life. Patients with neurofibromatosis type 1 present with multiple neurofibromas, especially of the plexiform type ... Read more >>

Ann Pathol (Annales de pathologie)
[2020, :]

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LASER Assisted Excision of Solitary Neurofibroma in the Gingiva.

Deepak M Ravindran, Shravanthy Ravi, Muthukumar Santhanakrishnan, Balaji SK,

Neurofibromatosis (NF) is a genetic disorder that presents as benign tumours of the nervous system originating from the nerve sheath. It is of three types: Type I, Type II and Schwannomatosis. Type I Neurofibromatosis or von Recklinghausen's disease is the most common type of neurofibromatosis seen and it accounts for ... Read more >>

Cureus (Cureus)
[2020, 12(2):]

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Longitudinal evaluation of peripheral nerve sheath tumors in neurofibromatosis type 1: Growth analysis of plexiform neurofibromas and distinct nodular lesions.

Srivandana Akshintala, Andrea Baldwin, David J Liewehr, Anne Goodwin, Jaishri O Blakeley, Andrea M Gross, Seth M Steinberg, Eva Dombi, Brigitte C Widemann,

BACKGROUND:Understanding the natural history of non-malignant peripheral nerve sheath tumors (PNSTs) in neurofibromatosis type 1 (NF1) is critical to optimal clinical care and the development of meaningful clinical trials. METHODS:We longitudinally analyzed growth of plexiform neurofibromas (PNs) and of PNSTs with distinct nodular appearance (distinct nodular lesions/DNLs) using volumetric MRI ... Read more >>

Neuro-oncology (Neuro-oncology)
[2020, :]

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