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https://www.readbyqxmd.com/read/28434888/melorheostosis-exome-sequencing-of-an-associated-dermatosis-implicates-postzygotic-mosaicism-of-mutated-kras
#1
Michael P Whyte, Malachi Griffith, Lee Trani, Steven Mumm, Gary S Gottesman, William H McAlister, Kilannin Krysiak, Robert Lesurf, Zachary L Skidmore, Katie M Campbell, Ilana S Rosman, Susan Bayliss, Vinieth N Bijanki, Angela Nenninger, Brian A Van Tine, Obi L Griffith, Elaine R Mardis
Melorheostosis (MEL) is the rare sporadic dysostosis characterized by monostotic or polyostotic osteosclerosis and hyperostosis often distributed in a sclerotomal pattern. The prevailing hypothesis for MEL invokes postzygotic mosaicism. Sometimes scleroderma-like skin changes, considered a representation of the pathogenetic process of MEL, overlie the bony changes, and sometimes MEL becomes malignant. Osteopoikilosis (OPK) is the autosomal dominant skeletal dysplasia that features symmetrically distributed punctate osteosclerosis due to heterozygous loss-of-function mutation within LEMD3...
April 20, 2017: Bone
https://www.readbyqxmd.com/read/28427506/recent-advances-in-genitourinary-tumors-a-review-focused-on-biology-and-systemic-treatment
#2
REVIEW
Aránzazu González Del Alba, José Ángel Arranz, Javier Puente, María José Méndez-Vidal, Enrique Gallardo, Enrique Grande, Begoña Pérez-Valderrama, Enrique González-Billalabeitia, Martín Lázaro-Quintela, Álvaro Pinto, Nuria Lainez, Josep M Piulats, Emilio Esteban, José Pablo Maroto Rey, Jorge A García, Cristina Suárez
Updated information published up to 2016 regarding major advances in renal cancer, bladder cancer, and prostate cancer is here presented. Based on an ever better understanding of the genetic and molecular alterations that govern the initial pathogenic mechanisms of tumor oncogenesis, an improvement in the characterization and treatment of urologic tumors has been achieved in the past year. According to the Cancer Genome Atlas (ATLAS) project, alterations in the MET pathway are characteristics of type 1 papillary renal cell carcinomas, and activation of NRF2-ARE pathway is associated with the biologically distinct type 2...
May 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28427158/the-varied-distribution-and-impact-of-ras-codon-and-other-key-dna-alterations-across-the-translocation-cyclin-d-subgroups-in-multiple-myeloma
#3
Caleb K Stein, Charlotte Pawlyn, Shweta Chavan, Leo Rasche, Niels Weinhold, Adam Corken, Amy Buros, Pieter Sonneveld, Graham H Jackson, Ola Landgren, Tariq Mughal, Jie He, Bart Barlogie, P Leif Bergsagel, Faith E Davies, Brian A Walker, Gareth J Morgan
We examined a set of 805 cases that underwent DNA sequencing using the FoundationOne Heme (F1H) targeted sequencing panel and gene expression profiling. Known and likely variant calls from the mutational data were analyzed for significant associations with gene expression defined translocation cyclin D (TC) molecular subgroups. The spectrum of KRAS, NRAS, and BRAF codon mutations varied across subgroups with NRAS mutations at Q61 codon being common in hyperdiploid (HRD) and t(11;14) myeloma while being rare in MMSET and MAF...
February 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28416604/oncogenic-characterization-and-pharmacologic-sensitivity-of-activating-fibroblast-growth-factor-receptor-fgfr-genetic-alterations-to-the-selective-fgfr-inhibitor-erdafitinib
#4
Jayaprakash D Karkera, Gabriela Martinez Cardona, Katherine Bell, Dana Gaffney, Joseph C Portale, Ademi Santiago-Walker, Christopher Moy, Peter King, Michael Sharp, Rastilav Bahleda, Feng R Luo, John D Alvarez, Matthew V Lorenzi, Suso J Platero
Fibroblast growth factor receptor (FGFR) genetic alterations are frequently observed in cancer, suggesting that FGFR inhibition may be a promising therapy in patients harboring these lesions.  Identification of predictive and pharmacodynamic biomarkers to select and monitor patients most likely to respond to FGFR inhibition will be the key to clinical development of this class of agents.  Sensitivity to FGFR inhibition and correlation with FGFR pathway activation status were determined in molecularly annotated panels of cancer cell lines and xenograft models...
April 17, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28410231/genetic-alterations-in-seborrheic-keratoses
#5
Barbara Heidenreich, Evygenia Denisova, Sivaramakrishna Rachakonda, Onofre Sanmartin, Timo Dereani, Ismail Hosen, Eduardo Nagore, Rajiv Kumar
Seborrheic keratoses are common benign epidermal lesions that are associated with increased age and sun-exposure. Those lesions despite harboring multiple somatic alterations in contrast to malignant tumors appear to be genetically stable. In order to investigate and characterize the presence of recurrent mutations, we performed exome sequencing on DNA from one seborrheic keratosis lesion and corresponding blood cells from the same patients with follow up investigation of alterations identified by exome sequencing in 24 additional lesions from as many patients...
March 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28400699/ladd-syndrome-with-glaucoma-is-caused-by-a-novel-gene
#6
Allie Simpson, Armin Avdic, Ben R Roos, Adam DeLuca, Kathy Miller, Michael J Schnieders, Todd E Scheetz, Wallace L M Alward, John H Fingert
PURPOSE: Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder displaying variable expression of multiple congenital anomalies including hypoplasia or aplasia of the lacrimal and salivary systems causing abnormal tearing and dry mouth. Mutations in the FGF10, FGFR2, and FGFR3 genes were found to cause some cases of LADD syndrome in prior genetic studies. The goal of this study is to identify the genetic basis of a case of LADD syndrome with glaucoma and thin central corneal thickness (CCT)...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28388658/the-prognostic-significance-of-dapk1-in-bladder-cancer
#7
Jian-Yun Xie, Peng-Chen Chen, Jia-Li Zhang, Ze-Shou Gao, Henrique Neves, Shu-Dong Zhang, Qing Wen, Wei-Dong Chen, Hang Fai Kwok, Yao Lin
Bladder cancer is one of the leading causes of cancer-related death in men, however, there was only limited effective treatment for invasive bladder cancer. DAPK1 has been shown to play important role in apoptosis and autophagy to suppress cancer progression. Previous results have shown that DAPK1 promoter was hypermethylated in the majority of bladder cancer specimens, however, the prognostic significance of DAPK1 in bladder cancer has yet to be demonstrated. In the present study, we found that DAPK1 expression was negatively associated with tumor stage and a low level expression of DAPK1 in bladder cancer specimens were associated with shorter survival in bladder cancer patients in 3 independent bladder cancer datasets (n = 462)...
2017: PloS One
https://www.readbyqxmd.com/read/28379477/strong-fgfr3-staining-is-a-marker-for-fgfr3-fusions-in-diffuse-gliomas
#8
Kirsi J Granberg, Matti Annala, Birgitta Lehtinen, Juha Kesseli, Joonas Haapasalo, Pekka Ruusuvuori, Olli Yli-Harja, Tapio Visakorpi, Hannu Haapasalo, Matti Nykter, Wei Zhang
Background.: Inhibitors of fibroblast growth factor receptors (FGFRs) have recently arisen as a promising treatment option for patients with FGFR alterations. Gene fusions involving FGFR3 and transforming acidic coiled-coil protein 3 (TACC3) have been detected in diffuse gliomas and other malignancies, and fusion-positive cases have responded well to FGFR inhibition. As high FGFR3 expression has been detected in fusion-positive tumors, we sought to determine the clinical significance of FGFR3 protein expression level as well as its potential for indicating FGFR3 fusions...
April 1, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28377483/vulvar-squamous-cell-carcinoma-vscc-as-two-diseases-hpv-status-identifies-distinct-mutational-profiles-including-oncogenic-fibroblast-growth-factor-receptor-3
#9
Johanne I Weberpals, Bryan Lo, Marc M Duciaume, Johanna N Spaans, Aisling A Clancy, Jim Dimitroulakos, Glenwood D Goss, Harman S Sekhon
PURPOSE: Patients with advanced or recurrent invasive vulvar squamous cell carcinoma (VSCC) have limited treatment options and a grave prognosis. Understanding the genomic landscape may facilitate the identification of new therapies and improve clinical outcomes. EXPERIMENTAL DESIGN: A retrospective chart review and molecular analysis of patients with VSCC from 2000-2016 was performed at the Ottawa Hospital Research Institute. The presence of oncogenic HPV was determined by nested PCR and amplified DNA was sequenced using the Ion AmpliSeq Cancer Hotspot v2 Panel...
April 4, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28365159/genetic-alterations-in-the-molecular-subtypes-of-bladder-cancer-illustration-in-the-cancer-genome-atlas-dataset
#10
REVIEW
Woonyoung Choi, Andrea Ochoa, David J McConkey, Mattias Aine, Mattias Höglund, William Y Kim, Francisco X Real, Anne E Kiltie, Ian Milsom, Lars Dyrskjøt, Seth P Lerner
CONTEXT: Recent whole genome mRNA expression profiling studies revealed that bladder cancers can be grouped into molecular subtypes, some of which share clinical properties and gene expression patterns with the intrinsic subtypes of breast cancer and the molecular subtypes found in other solid tumors. The molecular subtypes in other solid tumors are enriched with specific mutations and copy number aberrations that are thought to underlie their distinct progression patterns, and biological and clinical properties...
March 29, 2017: European Urology
https://www.readbyqxmd.com/read/28359267/aberrant-expression-of-alk-and-ezh2-in-merkel-cell-carcinoma
#11
Tuukka Veija, Virve Koljonen, Tom Bohling, Mia Kero, Sakari Knuutila, Virinder Kaur Sarhadi
BACKGROUND: Distinct characteristic features categorize Merkel cell carcinoma (MCC) into two subgroups according to the Merkel cell polyomavirus infection. Many mutational studies on MCC have been carried out in recent years without identifying a prominent driver mutation. However, there is paucity reporting the expression of cancer genes at the RNA level in MCC tumors. In this study, we studied the RNA expression profiles of 26 MCC tumors, with a goal to identify prospective molecular targets that could improve the treatment strategies of MCC...
March 31, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28340475/irinotecan-upregulates-fibroblast-growth-factor-receptor-3-expression-in-colorectal-cancer-cells-which-mitigates-irinotecan-induced-apoptosis
#12
Zeynep N Erdem, Stefanie Schwarz, Daniel Drev, Christine Heinzle, Andrea Reti, Petra Heffeter, Xenia Hudec, Klaus Holzmann, Bettina Grasl-Kraupp, Walter Berger, Michael Grusch, Brigitte Marian
BACKGROUND: Irinotecan (IRI) is an integral part of colorectal cancer (CRC) therapy, but response rates are unsatisfactory and resistance mechanisms are still insufficiently understood. As fibroblast growth factor receptor 3 (FGFR3) mediates essential survival signals in CRC, it is a candidate gene for causing intrinsic resistance to IRI. METHODS: We have used cell line models overexpressing FGFR3 to study the receptor's impact on IRI response. For pathway blockade, a dominant-negative receptor mutant and a small molecule kinase inhibitor were employed...
March 21, 2017: Translational Oncology
https://www.readbyqxmd.com/read/28320388/exploring-the-fgfr3-related-oncogenic-mechanism-in-bladder-cancer-using-bioinformatics-strategy
#13
Wei Cao, Enguang Ma, Li Zhou, Tan Yuan, Chunying Zhang
BACKGROUND: Aberrant activation of fibroblast growth factor receptor 3 (FGFR3) is frequently observed in bladder cancer, but how it involved in carcinogenesis is not well understood. The current study was aimed to investigate the underlying mechanism on the progression of bladder cancer. METHODS: The GSE41035 dataset downloaded from Gene Expression Omnibus was used to identify the differentially expressed genes (DEGs) between bladder cancer cell line RT112 with or without depletion of FGFR3, and gene ontology enrichment analysis was performed...
March 20, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28304377/establishment-of-a-novel-cellular-model-for-myxofibrosarcoma-heterogeneity
#14
Birgit Lohberger, Nicole Stuendl, Andreas Leithner, Beate Rinner, Stefan Sauer, Karl Kashofer, Bernadette Liegl-Atzwanger
Human cancers frequently display substantial intra-tumoural heterogeneity in virtually all distinguishable phenotypic features, such as cellular morphology, gene expression, and metastatic potential. In order to investigate tumour heterogeneity in myxofibrosarcoma, we established a novel myxofibrosarcoma cell line with two well defined sub-clones named MUG-Myx2a and MUG-Myx2b. The parental tumour tissue and both MUG-Myx2 cell lines showed the same STR profile. The fact that MUG-Myx2a showed higher proliferation activity, faster migration and enhanced tumourigenicity was of particular interest...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28297043/avascular-retinal-findings-in-a-child-with-achondroplasia
#15
Hong-Uyen T Hua, Kimberly D Tran, Carlos A Medina, Brenda Fallas, Cathy Negron, Audina M Berrocal
The authors present clinical and angiographic findings in a 12-year-old girl with achondroplasia who presented with bilateral retinal peripheral nonperfusion and unilateral rhegmatogenous retinal detachment, which has not been previously described in achondroplasia. This report contributes incremental knowledge regarding aberrant retinal vascular phenomena observed in pediatric disease states and implicates the possible role of mutations in the FGFR3 gene in peripheral vascular abnormalities. [Ophthalmic Surg Lasers Imaging Retina...
March 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28261332/immunohistochemical-and-molecular-characterizations-in-urothelial-carcinoma-of-bladder-in-patients-less-than-45-years
#16
Veronika Weyerer, Roland Schneckenpointner, Thomas Filbeck, Maximilian Burger, Ferdinand Hofstaedter, Peter J Wild, Samson W Fine, Peter A Humphrey, Louis P Dehner, Mahul B Amin, Josef Rüschoff, Carsten Boltze, Andrea Tannapfel, Ellen Zwarthoff, Antonio Lopez-Beltran, Rodolfo Montironi, Cord Langner, Robert Stoehr, Arndt Hartmann, Johannes Giedl
Bladder tumours in early-onset patients are rare and seem to exhibit unique clinicopathological features. Only few studies have investigated somatic alterations in this specific age of onset group and evidence is accumulating of a distinct molecular behaviour of early-onset bladder tumours. We collected the largest cohort of early-onset tumours of patients 45 years old or younger and aimed to test genomic alterations typically found in bladder cancer. Tumours of 118 early-onset patients were compared with a consecutive group of 113 cases...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28255359/targeting-and-regulating-of-an-oncogene-via-nanovector-delivery-of-microrna-using-patient-derived-xenografts
#17
Shuyang Sun, Yilong Wang, Rong Zhou, Zicheng Deng, Yong Han, Xiao Han, Wenjie Tao, Zi Yang, Chaoji Shi, Duo Hong, Jiang Li, Donglu Shi, Zhiyuan Zhang
In precision cancer nanomedicine, the key is to identify the oncogenes that are responsible for tumorigenesis, based on which these genetic drivers can be each specifically regulated by a nanovector-directed, oncogene-targeted microRNA (miRNA) for tumor suppression. Fibroblast Growth Factor Receptor 3 (FGFR3) is such an oncogene. The molecular tumor-subtype harboring FGFR3 genomic alteration has been identified via genomic sequencing and referred to as the FGFR3-driven tumors. This genomics-based tumor classification provides further rationale for the development of the FGFR3-targeted miRNA replacement therapy in treating patients with FGFR3 gene abnormity...
2017: Theranostics
https://www.readbyqxmd.com/read/28255027/akt-activation-mediates-acquired-resistance-to-fibroblast-growth-factor-receptor-inhibitor-bgj398
#18
Jharna Datta, Senthilkumar Damodaran, Hannah Parks, Cristina Ocrainiciuc, Jharna Miya, Lianbo Yu, Elijah P Gardner, Eric Samorodnitsky, Michele R Wing, Darshna Bhatt, John Hays, Julie W Reeser, Sameek Roychowdhury
Activation of FGFR signaling through mutations, amplifications, or fusions involving FGFR1, 2, 3, or 4 is seen in multiple tumors, including lung, bladder, and cholangiocarcinoma. Currently, several clinical trials are evaluating the role of novel FGFR inhibitors in solid tumors. As we move forward with FGFR inhibitors clinically, we anticipate the emergence of resistance with treatment. Consequently, we sought to study the mechanism(s) of acquired resistance to FGFR inhibitors using annotated cancer cell lines...
April 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28254233/perinatal-imaging-findings-and-molecular-genetic-analysis-of%C3%A2-thanatophoric-dysplasia-type-1-in-a-fetus-with-a-c-2419t-g-p-ter807gly-x807g-mutation-in-fgfr3
#19
Shin-Wen Chen, Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Pei-Chen Wu, Yen-Ni Chen, Chen-Ju Lin, Wen-Ling Chen, Wayseen Wang
OBJECTIVE: We present perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type I (TD1) in a fetus. CASE REPORT: A 28-year-old woman was referred for genetic counseling at 22 weeks of gestation because of abnormal prenatal ultrasound findings. Level II ultrasound examination revealed a narrow chest, shortened and curved long limbs, protrusion of the abdomen, and macrocephaly. A tentative diagnosis of TD1 was made. After genetic counseling, the pregnancy was terminated and a malformed fetus was delivered...
February 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28253570/-clinical-analysis-of-21-cases-with-short-fetal-femur-in-the-third-trimester
#20
Y Ren, Y Q You, H H Zhou, L X Wang, H Xu, R B Li, S J Wang, X X Xie, Y G Meng, Y P Lu
Objective: To analyze the clinical features and to explore the etiology of short fetal femur during the third trimester. Methods: From January 2010 to June 2016, 21 singleton pregnancies with short fetal femur detected by ultrasonography during the third trimester were referred to the Chinese PLA General Hospital. Clinical data were collected, karyotype or single nucleotide polymorphism microarray was carried out to detect chromosomal abnormalities, and FGFR3 c.1138G>A mutation detection was carried out to detect achondroplasia (ACH) via invasive procedure, respectively...
February 25, 2017: Zhonghua Fu Chan Ke za Zhi
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