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https://www.readbyqxmd.com/read/29784668/centrosome-linker-induced-tetraploid-segregation-errors-link-rhabdoid-phenotypes-and-lethal-colorectal-cancers
#1
Andrea Remo, Erminia Manfrin, Pietro Parcesepe, Alberto Ferrarini, Hye Seung Han, Mickys Ugnius, Carmelo Laudanna, Michele Simbolo, Donatella Malanga, Duarte Mendes Oliveira, Elisabetta Baritono, Tommaso Colangelo, Lina Sabatino, Jacopo Giuliani, Enrico Molinari, Marianna Garonzi, Luciano Xumerle, Massimo Delledonne, Guido Giordano, Claudio Ghimenton, Fortunato Lonardo, Fulvio D'angelo, Federica Grillo, Luca Mastracci, Giuseppe Viglietto, Michele Ceccarelli, Vittorio Colantuoni, Aldo Scarpa, Massimo Pancione
Centrosome anomalies contribute to tumorigenesis but it remains unclear how they are generated in lethal cancer phenotypes. Here, it is demonstrated that human microsatellite instable (MSI) and BRAF(V600E) mutant colorectal cancers with a lethal rhabdoid phenotype are characterized by inactivation of centrosomal functions. A splice site mutation that causes an unbalanced dosage of rootletin (CROCC), a centrosomal-linker component required for centrosome cohesion and separation at the chromosome 1p36.13 locus, resulted in abnormally shaped centrosomes in rhabdoid cells from human colon tissues...
May 21, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29783802/-clinicopathologic-and-molecular-features-of-cribriform-morular-variant-of-papillary-thyroid-carcinoma
#2
X J Cui, H O Zhao, P Su, J Chen, R Y Zhang, Y Pan, X M Ouyang, J Liu, J Q Zhang, Y Yang, R Yang, L Ding, Z Y Liu
Objective: To investigate the clinicopathologic and molecular features of the rare cribriform morular variant of papillary thyroid carcinoma (CMV-PTC). Methods: The clinicopathologic data of 10 patients with CMV-PTC were retrospectively reviewed. Immunohistochemical (IHC) staining was done using LSAB method. DNA sequencing for APC were applied using Sanger method. BRAF V600E mutation was examined using ARMS method. The cytological, morphological, IHC and molecular features were analyzed. Results: All patients were female at an average age of 27 years old...
May 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29775633/braf-v600e-mutations-in-nevi-and-melanocytic-tumors-of-uncertain-malignant-potential-meltumps
#3
Ruth Seitz-Alghrouz, Jose Villacorta Hidalgo, Claudia Kayser, Clemens Kreutz, Kristin Technau-Hafsi, Carlos Diaz, Andreas von Deimling, Jens Timmer, Martin Werner, Miroslav Malkovsky, Paul Fisch
No abstract text is available yet for this article.
May 15, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29771690/heavily-pigmented-epithelioid-melanoma-with-loss-of-protein-kinase-a-regulatory-subunit-%C3%AE-expression
#4
Jarish N Cohen, Jessica A Spies, Fawn Ross, Angela Bohlke, Timothy H McCalmont
Heavily pigmented melanocytic neoplasms are genotypically and phenotypically diverse. Recently, a subset of this histopathologic spectrum was shown to harbor recurrent genetic alterations in the gene-encoding protein kinase A regulatory subunit-α (PRKAR1A). To date, no histopathologic descriptions of melanomas arising from this pathway have been described. We present a case of a darkly pigmented papule arising on the posterior neck of a 28-year-old man. Microscopically, the heavily pigmented compound melanocytic proliferation was centered in the dermis with permeation into the superficial subcutis...
May 16, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29770477/braf-v-600e-mutations-and-immunohistochemical-expression-of-ve1-protein-in-low-grade-serous-neoplasms-of-the-ovary
#5
Gulisa Turashvili, Rachel N Grisham, Sarah Chiang, Deborah F Delair, Kay J Park, Robert A Soslow, Rajmohan Murali
AIMS: The most common BRAF mutation in ovarian low-grade serous neoplasms (LGSNs) involves substitution of valine by glutamic acid at position 600 (V600E). Small studies have demonstrated high specificity of immunohistochemistry with mutation-specific monoclonal antibody VE1. We sought to investigate expression of VE1 protein in LGSNs and its correlation with BRAF mutation-associated histological features and BRAF mutation status. METHODS AND RESULTS: We reviewed pathology reports and available slides from ovarian serous borderline tumours (SBTs) and low-grade serous carcinomas (LGSCs) diagnosed between 2000-2012...
May 16, 2018: Histopathology
https://www.readbyqxmd.com/read/29768711/clinical-resistance-associated-with-a-novel-map2k1-mutation-in-a-patient-with-langerhans-cell-histiocytosis
#6
David O Azorsa, David W Lee, Daniel H Wai, Ranjan Bista, Apurvi R Patel, Eiman Aleem, Michael M Henry, Robert J Arceci
Patients with Langerhans cell histiocytosis (LCH) harbor BRAF V600E and activating mutations of MAP2K1/MEK1 in 50% and 25% of cases, respectively. We evaluated a patient with treatment-refractory LCH for mutations in the RAS-RAF-MEK-ERK pathway and identified a novel mutation in the MAP2K1 gene resulting in a p.L98_K104 > Q deletion and predicted to be auto-activating. During treatment with the MEK inhibitor trametinib, the patient's disease showed significant progression. In vitro characterization of the MAP2K1 p...
May 16, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29766713/probing-dna-hybridization-equilibrium-by-cationic-conjugated-polymer-for-highly-selective-detection-and-imaging-of-single-nucleotide-mutation
#7
Zehao Li, Xu Zhou, Lidan Li, Shue Liu, Congshan Wang, Lina Li, Changyuan Yu, Xin Su
Hybridization-based probes emerge as a promising tool for nucleic acid target detection and imaging. However, the single-nucleotide selectivity is still challenging because the specificity of hybridization reaction is typically low at room temperature. We disclose an effective and simple method for highly selective detection and in situ imaging of single-nucleotide mutation (SNM) by taking the advantages of the specific hybridization of short duplex and the signal amplifying effect of cationic conjugated polymer (CCP)...
May 16, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29763623/molecular-pathological-radiological-and-immune-profiling-of-non-brainstem-pediatric-high-grade-glioma-from-the-herby-phase-ii-randomized-trial
#8
Alan Mackay, Anna Burford, Valeria Molinari, David T W Jones, Elisa Izquierdo, Jurriaan Brouwer-Visser, Felice Giangaspero, Christine Haberler, Torsten Pietsch, Thomas S Jacques, Dominique Figarella-Branger, Daniel Rodriguez, Paul S Morgan, Pichai Raman, Angela J Waanders, Adam C Resnick, Maura Massimino, Maria Luisa Garrè, Helen Smith, David Capper, Stefan M Pfister, Thomas Würdinger, Rachel Tam, Josep Garcia, Meghna Das Thakur, Gilles Vassal, Jacques Grill, Tim Jaspan, Pascale Varlet, Chris Jones
The HERBY trial was a phase II open-label, randomized, multicenter trial evaluating bevacizumab (BEV) in addition to temozolomide/radiotherapy in patients with newly diagnosed non-brainstem high-grade glioma (HGG) between the ages of 3 and 18 years. We carried out comprehensive molecular analysis integrated with pathology, radiology, and immune profiling. In post-hoc subgroup analysis, hypermutator tumors (mismatch repair deficiency and somatic POLE/POLD1 mutations) and those biologically resembling pleomorphic xanthoastrocytoma ([PXA]-like, driven by BRAF_V600E or NF1 mutation) had significantly more CD8+ tumor-infiltrating lymphocytes, and longer survival with the addition of BEV...
May 14, 2018: Cancer Cell
https://www.readbyqxmd.com/read/29760834/a-case-series-of-two-patients-presenting-with-pericardial-effusion-as-first-manifestation-of-non-small-cell-lung-cancer-with-braf-mutation-and-expression-of-pd-l1
#9
Muhammad Mufti, Steven Ching, Sassan Farjami, Sharareh Shahangian, Serap Sobnosky
Lung cancer is the number one cause of cancer-related deaths in the United States. Involvement of pericardium occurs once cancer has progressed to stage IV which can cause massive effusion in the pericardial sac. This can lead to cardiac tamponade which can be fatal very quickly if untreated. The following is a two patient case series in which both patients presented with large pericardial effusion. The first patient sought medical attention due to new onset palpitations and was found to have hemorrhagic pericardial effusion and pulmonary embolism (PE)...
April 2018: World Journal of Oncology
https://www.readbyqxmd.com/read/29760568/co-existence-of-braf-v600e-and-tert-promoter-mutations-in-papillary-thyroid-carcinoma-is-associated-with-tumor-aggressiveness-but-not-with-lymph-node-metastasis
#10
Haoyu Ren, Yifan Shen, Daixing Hu, Wei He, Jing Zhou, Yijia Cao, Yu Mao, Yi Dou, Wei Xiong, Qi Xiao, Yuhong Zhang, Xinliang Su
Background: Mutations of BRAF V600E and TERT promoters are associated with thyroid cancer development. This study further investigated association of these mutations with clinicopathological characteristics from patients with papillary thyroid carcinoma (PTC). Methods: Tumor tissues from 342 PTC patients were obtained for DNA extraction and polymerase chain reaction amplification to detect the BRAF V600E mutation using amplification-refractory mutation system-polymerase chain reaction...
2018: Cancer Management and Research
https://www.readbyqxmd.com/read/29755114/az304-a-novel-dual-braf-inhibitor-exerts-anti-tumour-effects-in-colorectal-cancer-independently-of-braf-genetic-status
#11
Rui Ma, Ling Xu, Xiujuan Qu, Xiaofang Che, Ye Zhang, Yibo Fan, Ce Li, Tianshu Guo, Kezuo Hou, Xuejun Hu, Lisa Drew, Minhui Shen, Tony Cheung, Yunpeng Liu
BACKGROUND: BRAF mutation is associated with poor clinical outcome of patients with malignant tumours, and mediates resistance to chemotherapy and targeted therapy. This study aimed to determine whether V600E mutant and wild type BRAF colorectal cancers exhibit distinct sensitivities to the dual BRAF inhibitor AZ304. METHODS: Kinase activity was assessed by the AlphaScreen assay. Then, MTT assay, EdU assay, colony-formation assay and Western blot were performed to evaluate the anti-tumour effects of AZ304 in vitro...
May 14, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29754815/an-acquired-vulnerability-of-drug-resistant-melanoma-with-therapeutic-potential
#12
Liqin Wang, Rodrigo Leite de Oliveira, Sanne Huijberts, Evert Bosdriesz, Nora Pencheva, Diede Brunen, Astrid Bosma, Ji-Ying Song, John Zevenhoven, G Tjitske Los-de Vries, Hugo Horlings, Bastiaan Nuijen, Jos H Beijnen, Jan H M Schellens, Rene Bernards
BRAF(V600E) mutant melanomas treated with inhibitors of the BRAF and MEK kinases almost invariably develop resistance that is frequently caused by reactivation of the mitogen activated protein kinase (MAPK) pathway. To identify novel treatment options for such patients, we searched for acquired vulnerabilities of MAPK inhibitor-resistant melanomas. We find that resistance to BRAF+MEK inhibitors is associated with increased levels of reactive oxygen species (ROS). Subsequent treatment with the histone deacetylase inhibitor vorinostat suppresses SLC7A11, leading to a lethal increase in the already-elevated levels of ROS in drug-resistant cells...
April 28, 2018: Cell
https://www.readbyqxmd.com/read/29753029/inherited-genetic-variants-associated-with-melanoma-braf-nras-subtypes
#13
Nancy E Thomas, Sharon N Edmiston, Irene Orlow, Peter A Kanetsky, Li Luo, David C Gibbs, Eloise A Parrish, Honglin Hao, Klaus J Busam, Bruce K Armstrong, Anne Kricker, Anne E Cust, Hoda Anton-Culver, Stephen B Gruber, Richard P Gallagher, Roberto Zanetti, Stefano Rosso, Lidia Sacchetto, Terence Dwyer, David W Ollila, Colin B Begg, Marianne Berwick, Kathleen Conway
BRAF and NRAS mutations arise early in melanoma development but their associations with low-penetrance melanoma susceptibility loci remain unknown. In the Genes, Environment and Melanoma (GEM) Study, 1223 European-origin participants had their incident invasive primary melanomas screened for BRAF/NRAS mutations and germline DNA genotyped for 47 single-nucleotide polymorphisms (SNPs) identified as low-penetrant melanoma risk variants. We used multinomial logistic regression to simultaneously examine each SNP's relationship to BRAF V600E, BRAF V600K, BRAF other, and NRAS+ relative to BRAF-/NRAS- melanoma adjusted for study features...
May 9, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29748446/braf-v600e-mutation-detected-in-a-case-of-rosai-dorfman-disease
#14
Giancarlo Fatobene, Julien Haroche, Zofia Hélias-Rodzwicz, Frédéric Charlotte, Valérie Taly, Aliana Meneses Ferreira, André Néder Ramires Abdo, Vanderson Rocha, Jean-François Emile
No abstract text is available yet for this article.
May 10, 2018: Haematologica
https://www.readbyqxmd.com/read/29747061/serrated-epithelial-colorectal-polyps-hyperplastic-polyps-sessile-serrated-adenomas-with-perineurial-stroma-clinicopathological-and-molecular-analysis-of-a-new-series
#15
Katharina Erlenbach-Wünsch, Michel Bihl, Arndt Hartmann, Gabriel M Groisman, Michael Vieth, Abbas Agaimy
Serrated colorectal fibroblastic polyps (FPs) are rare benign mucosal lesions composed of serrated epithelial crypts separated and distorted by intimately associated bland spindle cell proliferations with perineurial-like phenotype. We herein describe 21 new FPs affecting 10 females and 9 males aged 45 to 80 yrs. (mean, 62 yrs). Lesions originated in the sigmoid colon/rectosigmoid junction (n = 16), rectum (n = 2), and other parts of the colon (n = 3). Most patients had additional synchronous or metachronous polyps: classical adenomas (12 patients), sessile serrated adenoma/SSA (1 patient), hyperplastic polyps/HPs (7 patients), both HPs and adenomas (6 patients) and colorectal cancer (2 patients)...
May 4, 2018: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/29744614/a-case-of-epidural-glioblastoma-metastasis-presenting-with-a-cervical-myelopathy-torticollis-and-l-hermitte-s-phenomenon
#16
Michael W Ruff, Adip G Bhargav, Aditya Raghunathan
Extraneural glioblastoma metastases are exceedingly rare, though previously described in the literature. Activating mutations in the BRAF kinase gene (V600E) are present in a minority of glioblastoma patients. Here, we describe a case of systemic metastases of a clonal subpopulation of BRAF V600E mutated glioblastoma in a patient previously treated with surgery, radiation, temozolomide and bevacizumab. The patient presented with a subacute cervical myelopathy during adjuvant treatment. He underwent emergent surgical decompression of an epidural spine metastasis...
May 9, 2018: Brain Tumor Pathology
https://www.readbyqxmd.com/read/29742076/update-on-hairy-cell-leukemia
#17
Robert J Kreitman, Evgeny Arons
Hairy cell leukemia (HCL) is a chronic B-cell malignancy with multiple treatment options, including several that are investigational. Patients present with pancytopenia and splenomegaly, owing to the infiltration of leukemic cells expressing CD22, CD25, CD20, CD103, tartrate-resistant acid phosphatase (TRAP), annexin A1 (ANXA1), and the BRAF V600E mutation. A variant lacking CD25, ANXA1, TRAP, and the BRAF V600E mutation, called HCLv, is more aggressive and is classified as a separate disease. A molecularly defined variant expressing unmutated immunoglobulin heavy variable 4-34 (IGHV4-34) is also aggressive, lacks the BRAF V600E mutation, and has a phenotype of HCL or HCLv...
March 2018: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/29739364/pan-raf-and-mek-vertical-inhibition-enhances-therapeutic-response-in-non-v600-braf-mutant-cells
#18
Eszter Molnár, Dominika Rittler, Marcell Baranyi, Michael Grusch, Walter Berger, Balázs Döme, József Tóvári, Clemens Aigner, József Tímár, Tamás Garay, Balázs Hegedűs
BACKGROUND: Currently, there are no available targeted therapy options for non-V600 BRAF mutated tumors. The aim of this study was to investigate the effects of RAF and MEK concurrent inhibition on tumor growth, migration, signaling and apoptosis induction in preclinical models of non-V600 BRAF mutant tumor cell lines. METHODS: Six BRAF mutated human tumor cell lines CRL5885 (G466 V), WM3629 (D594G), WM3670 (G469E), MDAMB231 (G464 V), CRL5922 (L597 V) and A375 (V600E as control) were investigated...
May 8, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29737419/langerhans-cell-histiocytosis-presenting-as-crohn-s-disease-a-case-report
#19
Amelie Therrien, Zaki El Haffaf, Claire Wartelle-Bladou, Justin Côté-Daigneault, Bich N Nguyen
PURPOSE: We describe an exceptional case of Langerhans cell histiocytosis (LCH) that presented as Crohn's disease and primary sclerosing cholangitis. METHODS: The patient's clinical, endoscopic, and histologic data from the Centre Hospitalier de l'Universite de Montreal were reviewed, as well as the literature on LCH involving the digestive tract and the liver, with a focus on the similarities with Crohn's disease and primary sclerosing cholangitis. RESULTS: A 39 years-old man first presented with anal fissures and deep punctiform colonic ulcers...
May 8, 2018: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/29737325/the-mek1-2-inhibitor-azd6244-sensitizes-braf-mutant-thyroid-cancer-to-vemurafenib
#20
Hao Song, Jinna Zhang, Liang Ning, Honglai Zhang, Dong Chen, Xuelong Jiao, Kejun Zhang
BACKGROUND [i]BRAF[/i]V600E mutation occurs in approximately 45% of papillary thyroid cancer (PTC) cases, and 25% of anaplastic thyroid cancer (ATC) cases. Vemurafenib/PLX4032, a selective BRAF inhibitor, suppresses extracellular signal-regulated kinase kinase/extracellular signal-regulated kinase 1/2 (MEK/ERK1/2) signaling and shows beneficial effects in patients with metastatic melanoma harboring the [i]BRAFV600E[/i] mutation. However, the response to vemurafenib is limited in BRAF-mutant thyroid cancer. The present study evaluated the effect of vemurafenib in combination with the selective MEK1/2 inhibitor AZD6244 on cell survival and explored the mechanism underlying the combined effect of vemurafenib and AZD6244 on thyroid cancer cells harboring BRAFV600E...
May 8, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
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