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https://www.readbyqxmd.com/read/28924536/genetic-analyses-of-the-nf1-gene-in-turkish-neurofibromatosis-type-i-patients-and-definition-of-three-novel-variants
#1
S D Ulusal, H Gürkan, E Atlı, S A Özal, M Çiftdemir, H Tozkır, Y Karal, H Güçlü, D Eker, I Görker
Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28918451/quantitative-18-f-dopa-pet-ct-in-pheochromocytoma-the-relationship-between-tumor-secretion-and-its-biochemical-phenotype
#2
Vincent Amodru, Carole Guerin, Sarkis Delcourt, Pauline Romanet, Anderson Loundou, Bruna Viana, Thierry Brue, Frédéric Castinetti, Frédéric Sebag, Karel Pacak, David Taïeb
INTRODUCTION: (18)F-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between (18)F-FDOPA quantitative parameters and a PHEO secretory profile has not been specifically evaluated. MATERIALS AND METHODS: Fifty-six patients (56% females, median age: 47.5 yrs) with non-metastatic PHEO, evaluated by (18)F-FDOPA PET/CT, were included in this retrospective study. Forty-five patients had negative genetic testing (80...
September 16, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28912153/comprehensive-genomic-profiling-of-282-pediatric-low-and-high-grade-gliomas-reveals-genomic-drivers-tumor-mutational-burden-and-hypermutation-signatures
#3
Adrienne Johnson, Eric Severson, Laurie Gay, Jo-Anne Vergilio, Julia Elvin, James Suh, Sugganth Daniel, Mandy Covert, Garrett M Frampton, Sigmund Hsu, Glenn J Lesser, Kimberly Stogner-Underwood, Ryan T Mott, Sarah Z Rush, Jennifer J Stanke, Sonika Dahiya, James Sun, Prasanth Reddy, Zachary R Chalmers, Rachel Erlich, Yakov Chudnovsky, David Fabrizio, Alexa B Schrock, Siraj Ali, Vincent Miller, Philip J Stephens, Jeffrey Ross, John R Crawford, Shakti H Ramkissoon
BACKGROUND: Pediatric brain tumors are the leading cause of death for children with cancer in the U.S. Incorporating next-generation sequencing data for both pediatric low-grade (pLGGs) and high-grade gliomas (pHGGs) can inform diagnostic, prognostic, and therapeutic decision-making. MATERIALS AND METHODS: We performed comprehensive genomic profiling on 282 pediatric gliomas (157 pHGGs, 125 pLGGs), sequencing 315 cancer-related genes and calculating the tumor mutational burden (TMB; mutations per megabase [Mb])...
September 14, 2017: Oncologist
https://www.readbyqxmd.com/read/28891274/breast-cancer-risk-and-germline-genomic-profiling-of-women-with-neurofibromatosis-type-1-who-developed-breast-cancer
#4
Xia Wang, Jamie K Teer, Renee N Tousignant, Albert M Levin, David Boulware, Dhananjay A Chitale, Brandon M Shaw, Zhihua Chen, Yonghong Zhang, Jaishri O Blakeley, Maria T Acosta, Ludwine M Messiaen, Bruce R Korf, Michael A Tainsky
NF1 mutations predispose to neurofibromatosis type1 (NF1) and women with NF1 have a moderately elevated risk for breast cancer, especially under age 50. Germline genomic analysis may better define the risk so screening and prevention can be applied to the individuals who benefit the most. Survey conducted in several neurofibromatosis clinics in the United States has demonstrated a 17.2% lifetime risk of breast cancer in women affected with NF1. Cumulated risk to age 50 is estimated to be 9.27%. For genomic profiling, fourteen women with NF1 and a history of breast cancer were recruited and underwent whole exon sequencing (WES), targeted genomic DNA based and RNA based analysis of the NF1 gene...
September 10, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28891076/natural-course-and-characteristics-of-cutaneous-neurofibromas-in-neurofibromatosis-1
#5
Yuko Ehara, Osamu Yamamoto, Kenjiro Kosaki, Yuichi Yoshida
Neurofibromatosis 1 (NF1) is characterized by cutaneous, neurological and osseous manifestations. Most NF1 patients develop cutaneous neurofibromas. However, time-dependent change with aging and the predilection site of cutaneous neurofibromas remain unclear. To clarify the natural course and characteristics of cutaneous neurofibromas, a retrospective study was conducted for 57 NF1 patients who were treated at the Department of Dermatology of Tottori University Hospital between January 2007 and April 2016. For each patient, we investigated the time-dependent changes and the numbers of cutaneous neurofibromas in four body surface regions...
September 11, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28884746/inflammatory-leiomyosarcoma-is-a-distinct-tumor-characterized-by-near-haploidization-few-somatic-mutations-and-a-primitive-myogenic-gene-expression-signature
#6
Elsa Arbajian, Jan Köster, Fredrik Vult von Steyern, Fredrik Mertens
Inflammatory leiomyosarcoma is a soft-tissue tumor resembling conventional leiomyosarcoma, but with a prominent intrinsic inflammatory component. Previous studies have suggested that inflammatory leiomyosarcoma differs genetically from leiomyosarcoma, but in-depth analyses are lacking. Here we provide a comprehensive picture of the genome and transcriptome of inflammatory leiomyosarcoma by combining cytogenetic, single-nucleotide polymorphism array, mRNA-sequencing, and whole-exome sequencing data. The results show that inflammatory leiomyosarcoma has a specific genetic profile characterized by near-haploidization with or without subsequent whole-genome doubling...
September 8, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28881745/whole-tumor-rna-sequencing-and-deconvolution-reveal-a-clinically-prognostic-pten-pi3k-regulated-glioma-transcriptional-signature
#7
Yuan Pan, Erin C Bush, Joseph A Toonen, Yu Ma, Anne C Solga, Peter A Sims, David H Gutmann
The concept that solid tumors are maintained by a productive interplay between neoplastic and non-neoplastic elements has gained traction with the demonstration that stromal fibroblasts and immune system cells dictate cancer development and progression. While less studied, brain tumor (glioma) biology is likewise influenced by non-neoplastic immune system cells (macrophages and microglia) which interact with neoplastic glioma cells to create a unique physiological state (glioma ecosystem) distinct from that found in the normal tissue...
August 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28870819/-type-1-neurofibromatosis-onset-of-two-tumors-before-the-age-of-5years
#8
M Remillieux, C Durand, H Sartelet, C Piolat, E Bourgeois, P Pommier, F Hameury, K Dieterich, D Vidaud, C Perret
Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant genetic disorder that predisposes to the development of benign and malignant tumors. Mutation of the NF1 gene affects the RAS-MAPK signaling pathway and leads to a dysfunction in cell proliferation and induces tumor development. Epidemiology of cancer in children with NF1 is very different from the general pediatric population, which requires regular and specific monitoring. Neurofibroma is the most frequent benign tumor. It can be very invalidating depending on the size and location of the tumor...
September 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28867317/extensive-mirror-image-neurofibromas-of-the-entire-spine-resulting-in-spastic-tetraplegia
#9
Mark Bigder, Paul Szelemej, Neil Berrington
Neurofibromatosis 1 (NF1) is associated with increased incidence of spinal tumors including neurofibromas. The majority of NF1 associated spine neurofibromas are asymptomatic, however a minority of patients will experience neurological symptoms which can range from mild paraesthesias, radiculopathy, myelopathy and focal weakness to quadriplegia in extreme cases. We present a 21 year old male diagnosed with NF1 in infancy and followed for multiple mirror-image neurofibromas involving the entire spine. He was asymptomatic until age 14 when he developed neck pain and progressive tetraplegia with MRI showing severe cord compression secondary to bilateral C2 neurofibromas...
August 31, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28862369/consideration-of-the-haplotype-diversity-at-nonallelic-homologous-recombination-nahr-hotspots-improves-the-precision-of-rearrangement-breakpoint-identification
#10
Morten Hillmer, Anna Summerer, Victor-Felix Mautner, Josef Högel, David N Cooper, Hildegard Kehrer-Sawatzki
Precise characterization of NAHR breakpoints is key to identifying those features that influence NAHR frequency. Until now, analysis of NAHR-mediated rearrangements has generally been performed by comparison of the breakpoint-spanning sequences with the human genome reference sequence. We show here that the haplotype diversity of NAHR hotspots may interfere with breakpoint-mapping. We studied the transmitting parents of individuals with germline type-1 NF1 deletions mediated by NAHR within the PRS1 or PRS2 hotspots...
September 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28862263/neurofibromin-c-terminus-specific-antibody-clone-nfc-is-a-valuable-tool-for-the-identification-of-nf1-inactivated-gists
#11
Sabrina Rossi, Daniela Gasparotto, Matilde Cacciatore, Marta Sbaraglia, Alessia Mondello, Maurizio Polano, Alessandra Mandolesi, Alessandro Gronchi, David E Reuss, Andreas von Deimling, Roberta Maestro, Angelo Paolo Dei Tos
An increasing body of evidence supports the involvement of NF1 mutations, constitutional or somatic, in the pathogenesis of gastrointestinal stromal tumors (GISTs). Due to the large size of the NF1 locus, the existence of multiple pseudogenes and the wide spectrum of mechanisms of gene inactivation, the analysis of NF1 gene status is still challenging for most laboratories. Here we sought to assess the efficacy of a recently developed neurofibromin-specific antibody (NFC) in detecting NF1-inactivated GISTs...
September 1, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28860858/increased-risk-of-breast-cancer-in-neurofibromatosis-type-1-current-insights
#12
REVIEW
Sacha J Howell, Kimberley Hockenhull, Zena Salih, D Gareth Evans
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by mutation/deletion of the NF1 gene. The gene product, neurofibromin, is a tumor suppressor which represses the activity of the Ras oncogene. Central nervous system (CNS) tumors have long been associated with NF1, but their association with several other malignancies has been demonstrated. In this review, we summarize the epidemiological data that irrefutably support a link between NF1 and an increased risk of early-onset breast cancer, to levels at which annual mammography is currently recommended in national high-risk screening programs...
2017: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/28859862/the-promise-of-signal-transduction-in-genetically-driven-sarcomas-of-the-nerve
#13
REVIEW
AeRang Kim, Christine A Pratilas
Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome. Malignant peripheral nerve sheath tumors (MPNST) are aggressive soft tissue sarcomas arising from peripheral nerve sheaths, and the most commonly lethal feature associated with NF1. The hallmark of NF1 and NF1-related MPNST is the loss of neurofibromin expression. Loss of neurofibromin is considered a tumor-promoting event, and leads to constitutive activation of RAS and its downstream effectors. However, RAS activation alone is not sufficient for MPNST formation, and additional tumor suppressors and signaling pathways have been implicated in tumorigenesis of MPNST...
August 28, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28853219/numerical-activities-of-daily-living-in-adults-with-neurofibromatosis-type-1
#14
F Burgio, S Benavides-Varela, G Arcara, E Trevisson, D Frizziero, M Clementi, C Semenza
BACKGROUND: This study aimed to identify the mathematical domains affected in adults with neurofibromatosis 1 (NF1) and the impact of the numerical difficulties on the patients' activities of daily living. METHODS: We assessed 28 adult patients with NF1 and 28 healthy control participants. All participants completed the standardised battery of numerical activities of daily living along with clinical batteries of cognitive (Mini-Mental State Examination) and daily functioning (instrumental activities of daily living)...
August 29, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28852451/neurofibromatosis-type-1-and-male-breast-cancer-emerging-risk-factor
#15
Nolan Mann, Truong Ma, Arthur Dalton
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by the appearance of cafe au lait spots, neurofibromas and Lisch nodules. There is an established link between NF1 and the development of breast cancer in women; however, due to the rarity of both NF1 and male breast cancer, the same link has yet to be elucidated in men. The concurrent presentation of NF1 and male breast cancer is a very rare phenomenon with only a handful of case descriptions in the literature. To the best of our knowledge, there have only been four other reported cases of NF1 and male breast cancer before ours...
July 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28846462/immunohistochemical-markers-for-prospective-studies-in-neurofibromatosis-1-porcine-models
#16
David K Meyerholz, Georgina K Ofori-Amanfo, Mariah R Leidinger, J Adam Goeken, Rajesh Khanna, Jessica C Sieren, Benjamin W Darbro, Dawn E Quelle, Jill M Weimer
Neurofibromatosis type 1 (NF1) is a common, cancer-predisposing disease caused by mutations in the NF1 tumor gene. Patients with NF1 have an increased risk for benign and malignant tumors of the nervous system (e.g., neurofibromas, malignant peripheral nerve sheath tumors, gliomas) and other tissues (e.g., leukemias, rhabdomyosarcoma, etc.) as well as increased susceptibility to learning disabilities, chronic pain/migraines, hypertension, pigmentary changes, and developmental lesions (e.g., tibial pseudoarthrosis)...
August 1, 2017: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/28845518/neurodevelopmental-disorders-in-children-with-neurofibromatosis-type-1
#17
REVIEW
Alecia C Vogel, David H Gutmann, Stephanie M Morris
Over the past several decades, neurofibromatosis type 1 (NF1) has become increasingly recognized as a neurodevelopmental disorder conferring increased risk for several important neurodevelopmental problems. In this review, we summarize the specific neurodevelopmental problems encountered in the context of NF1. These include impairments in general cognitive function, deficits in specific cognitive domains such as executive function and visuospatial processing and risk for specific learning disorders, impairments in attention and social skills and the overlap with attention-deficit-hyperactivity disorder and autism spectrum disorder, and the risk of developing other psychiatric conditions including anxiety and depression...
August 27, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28844173/clinical-application-of-whole-genome-array-improves-the-diagnosis-of-pediatric-brain-tumors
#18
Lina Shao, Sue Miller, Carl Koschmann, Sandra Camelo-Piragua
Pediatric brain tumors are the leading cause of childhood cancer mortality. Recurring genetic abnormalities play an essential role in the diagnosis and prognosis of pediatric brain tumors. However, clinical workup has not routinely included whole genome assessment. Here, we present high resolution whole genome array results in 11 pediatric brain tumors. Array identified clinically relevant abnormalities in all samples. Copy number aberrations with targeted therapy implication, GOPC-ROS1 fusion, CDK4 amplification, and NF1 deletion, were detected in 3 cases...
August 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28842941/characterization-of-early-communicative-behavior-in-mouse-models-of-neurofibromatosis-type-1
#19
Susan E Maloney, Krystal C Chandler, Corina Anastasaki, Michael A Rieger, David H Gutmann, Joseph D Dougherty
Neurofibromatosis type 1 (NF1) is a monogenic neurodevelopmental disease caused by germline loss-of-function mutations in the NF1 tumor suppressor gene. Cognitive impairments are observed in approximately 80% of children with this disease, with 45-60% exhibiting autism spectrum disorder (ASD) symptomatology. In light of the high comorbidity rate between ASD and NF1, we assessed early communicative behavior by maternal-separation induced pup ultrasonic vocalizations (USV) and developmental milestones in two distinct Nf1 genetically engineered models, one modeling clinical germline heterozygous loss of Nf1 function (Nf1(+/-) mice), and a second with somatic biallelic Nf1 inactivation in neuroglial progenitor cells (Nf1(GFAP) CKO mice)...
August 26, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28842232/endoscopic-third-ventriculostomy-in-patients-with-neurofibromatosis-type-i-a-multicenter-international-experience
#20
Jonathan Roth, Roee Ber, Jeffrey H Wisoff, Eveline T Hidalgo, David D Limbrick, Daniel S Berger, Ulrich W Thomale, Matthias Schulz, Giuseppe Cinalli, Claudia Santoro, Shlomi Constantini
BACKGROUND: Hydrocephalus in patients with neurofibromatosis type I (NF1) is usually obstructive, and may arise secondary to tumoral or non-tumoral causes. The treatment of hydrocephalus in these patients is often challenging due to combined pathologies and unique anatomical changes. The use of endoscopic third ventriculostomy (ETV) as treatment has rarely been described in this group. In this study we aimed to characterize the indications, considerations and outcome of ETV in patients with NF1 gathered in a multicenter international cohort...
August 22, 2017: World Neurosurgery
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