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https://www.readbyqxmd.com/read/28527094/circulating-tumor-dna-measurement-by-picoliter-droplet-based-digital-pcr-and-vemurafenib-plasma-concentrations-in-patients-with-advanced-braf-mutated-melanoma
#1
Fanny Garlan, Benoit Blanchet, Nora Kramkimel, Alicja Puszkiel, Jean-Louis Golmard, Gaelle Noe, Nicolas Dupin, Pierre Laurent-Puig, Michel Vidal, Valerie Taly, Audrey Thomas-Schoemann
BACKGROUND: Circulating tumor DNA (ctDNA) has been reported as a prognostic marker in melanoma. In BRAF V600-mutant melanoma, a plasma under-exposure to vemurafenib could favor emerging resistance but no biological data are available to support this hypothesis. OBJECTIVE: We aimed to investigate the relationship between vemurafenib plasma concentrations and the ctDNA plasma concentration during follow-up of BRAF-mutated melanoma patients. PATIENTS AND METHODS: Eleven patients treated with single-agent vemurafenib for advanced BRAF V600-mutant melanoma were analyzed in an exploratory monocentric study...
May 19, 2017: Targeted Oncology
https://www.readbyqxmd.com/read/28523881/bumps-in-the-road-panniculitis-in-children-and-adolescents-treated-with-vemurafenib
#2
Nika Finelt, Rishi R Lulla, Hector Melin-Aldana, Jennifer Shuley Ruth, Frank Y Lin, Jack M Su, Crystal Y Pourciau, Raegan D Hunt, Brandi M Kenner-Bell
Vemurafenib is increasingly being used to treat nonmelanoma tumors that are positive for the BRAF V600E mutation. We report three children who presented with panniculitis induced by vemurafenib while undergoing treatment for central nervous system tumors and review the literature.
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28523274/identification-of-braf-positive-cases-based-on-whole-slide-image-analysis
#3
Vlad Popovici, Aleš Křenek, Eva Budinská
A key requirement for precision medicine is the accurate identification of patients that would respond to a specific treatment or those that represent a high-risk group, and a plethora of molecular biomarkers have been proposed for this purpose during the last decade. Their application in clinical settings, however, is not always straightforward due to relatively high costs of some tests, limited availability of the biological material and time, and procedural constraints. Hence, there is an increasing interest in constructing tissue-based surrogate biomarkers that could be applied with minimal overhead directly to histopathology images and which could be used for guiding the selection of eventual further molecular tests...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28521635/pathologic-characteristics-natural-history-and-prognostic-implications-of-braf-v600e-mutation-in-pediatric-papillary-thyroid-carcinoma
#4
Steven Hardee, Manju L Prasad, Pei Hui, Catherine A Dinauer, Raffaella A Morotti
The BRAF(V600E) mutation is the most common genetic aberration in papillary thyroid cancer (PTC), found in up to 68% of PTC in adults where it is associated with aggressive features. The incidence of this mutation in pediatric PTC is less frequent, reported as 0%-20% in the past and up to 63% in one recent series. Data suggest the mutation is not associated with an aggressive course in children; however, there are limited numbers of reported case series, so the prognostic implications remain poorly understood...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28515244/what-when-and-how-of-biomarker-testing-in-non-small-cell-lung-cancer
#5
Gregory L Riely
Biomarker testing is recommended for all patients diagnosed with non-small cell lung cancer. At a minimum, testing should include the mutations/fusions EGFR, ALK, ROS1, and the protein programmed death ligand-1 (PD-L1), because FDA-approved therapies are available for these alterations. Other actionable molecular findings include RET rearrangements, BRAF(V600E) mutations, and MET exon 14 alterations. If adequate testing was not performed at treatment initiation, molecular testing should be performed before administration of subsequent lines of therapy...
May 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28512190/hematopoietic-origin-of-langerhans-cell-histiocytosis-and-erdheim-chester-disease-in-adults
#6
Paul Milne, Venetia Bigley, Chris M Bacon, Antoine Néel, Naomi McGovern, Simon Bomken, Muzlifah Haniffa, Eli L Diamond, Benjamin H Durham, Johannes Visser, David Hunt, Harsha Gunawardena, Mac Macheta, Kenneth L McClain, Carl Allen, Omar Abdel-Wahab, Matthew Collin
Langerhans cell histiocytosis (LCH) and Erdheim Chester Disease (ECD) are rare histiocytic disorders induced by somatic mutation of MAP kinase pathway genes. BRAF(V600E) mutation is the most common mutation in both conditions and also occurs in the hematopoietic neoplasm hairy cell leukemia (HCL). It is not known if adult LCH or ECD arise from hematopoietic stem cells (HSC) nor which potential blood borne precursors lead to the formation of histiocytic lesions. In this study, BRAF V600E allele-specific PCR was used to map the neoplastic clone in 20 adults with LCH ECD and HCL...
May 16, 2017: Blood
https://www.readbyqxmd.com/read/28507274/targeted-next-generation-sequencing-identifies-somatic-mutations-and-gene-fusions-in-papillary-thyroid-carcinoma
#7
Zheming Lu, Yujie Zhang, Dongdong Feng, Jindong Sheng, Wenjun Yang, Baoguo Liu
138 papillary thyroid carcinoma (PTC) samples were assessed for somatic mutation profile and fusion genes by targeted resequencing using a cancer panel (ThyGenCapTM) targeting 244 cancer-related genes and 20 potential fusion genes. At least one genetic alteration (including mutations and fusion genes) was observed in 118/138 (85.5%) samples. The most frequently mutated gene was BRAF V600E (57.2%). Moreover, we identified 11 fusion genes including eight previously reported ones and three novel fusion genes, UEVLD-RET, OSBPL9-BRAF, and SQSTM1-NTRK3...
April 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28506993/mapk-pathway-activation-in-the-embryonic-pituitary-results-in-stem-cell-compartment-expansion-differentiation-defects-and-provides-insights-into-the-pathogenesis-of-papillary-craniopharyngioma
#8
S Haston, S Pozzi, G Carreno, S Manshaei, L Panousopoulos, J M Gonzalez-Meljem, J R Apps, A Virasami, S Thavaraj, A Gutteridge, T Forshew, R Marais, S Brandner, T S Jacques, C L Andoniadou, J P Martinez-Barbera
Despite the importance of the RAS-RAF-MAPK pathway in normal physiology and disease of numerous organs, its role during pituitary development and tumourigenesis remains largely unknown. Here we show that the over-activation of the MAPK pathway, through conditional expression of the gain-of-function alleles BrafV600E and KrasG12D in the developing mouse pituitary, results in severe hyperplasia and abnormal morphogenesis of the gland by the end of gestation. Cell-lineage commitment and terminal differentiation are disrupted, leading to a significant reduction in numbers of most of the hormone-producing cells before birth, with the exception of corticotrophs...
May 15, 2017: Development
https://www.readbyqxmd.com/read/28504689/molecular-signaling-in-multiple-myeloma-association-of-ras-raf-mutations-and-mek-erk-pathway-activation
#9
J Xu, N Pfarr, V Endris, E K Mai, N H Md Hanafiah, N Lehners, R Penzel, W Weichert, A D Ho, P Schirmacher, H Goldschmidt, M Andrulis, M S Raab
Multiple myeloma (MM) is a plasma cell malignancy that is still considered to be incurable in most cases. A dominant mutation cluster has been identified in RAS/RAF genes, emphasizing the potential significance of RAS/RAF/MEK/ERK signaling as a therapeutic target. As yet, however, the clinical relevance of this finding is unclear as clinical responses to MEK inhibition in RAS-mutant MM have been mixed. We therefore assessed RAS/RAF mutation status and MEK/ERK pathway activation by both targeted sequencing and phospho-ERK immunohistochemistry in 180 tissue biopsies from 103 patients with newly diagnosed MM (NDMM) and 77 patients with relapsed/refractory MM (rrMM)...
May 15, 2017: Oncogenesis
https://www.readbyqxmd.com/read/28504206/braf-v600e-mutation-in-pediatric-intracranial-and-cranial-juvenile-xanthogranuloma
#10
Piti Techavichit, Darintr Sosothikul, Thiamjit Chaichana, Chinachote Teerapakpinyo, Paul Scott Thorner, Shanop Shuangshoti
Juvenile xanthogranuloma (JXG) is a cutaneous form of non-Langerhans cell histiocytosis (LCH), primarily affecting children. The lesion is presumed to originate from either macrophages or dermal dendritic cells. JXG can rarely present as an isolated intracranial lesion and, in contrast to the dismal outcome of patients with systemic disease, cranial JXG has been shown to carry a more favorable prognosis. Here, we report for the first time 3 pediatric cases of JXG with a BRAF V600E mutation, 2 with intracranial lesions and one with cranial lesions...
May 10, 2017: Human Pathology
https://www.readbyqxmd.com/read/28500236/identification-of-the-serine-biosynthesis-pathway-as-a-critical-component-of-braf-inhibitor-resistance-of-melanoma-pancreatic-and-non-small-cell-lung-cancer-cells
#11
Kayleigh C Ross, Andrew J Andrews, Christopher D Marion, Timothy J Yen, Vikram Bhattacharjee
Metastatic melanoma cells commonly acquire resistance to BRAF V600E inhibitors (BRAFis). In this study, we identified serine biosynthesis as a critical mechanism of resistance. Proteomic assays revealed differential protein expression of serine biosynthetic enzymes PHGDH, PSPH, and PSAT1 following vemurafenib (BRAFi) treatment in sensitive versus acquired resistant melanoma cells. Ablation of PHGDH via siRNA sensitized acquired resistant cells to vemurafenib. Inhibiting the folate cycle, directly downstream of serine synthesis, with methotrexate also displayed similar sensitization...
May 12, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28490781/identification-of-long-noncoding-rnas-deregulated-in-papillary-thyroid-cancer-and-correlated-with-braf-v600e-mutation-by-bioinformatics-integrative-analysis
#12
Lucas Goedert, Jessica Rodrigues Plaça, Cesar Seigi Fuziwara, Maiaro Cabral Rosa Machado, Desirée Rodrigues Plaça, Palloma Porto Almeida, Talita Perez Sanches, Jair Figueredo Dos Santos, Amanda Cristina Corveloni, Illy Enne Gomes Pereira, Marcela Motta de Castro, Edna Teruko Kimura, Wilson Araújo Silva, Enilza Maria Espreafico
Papillary Thyroid Cancer (PTC) is an endocrine malignancy in which BRAF(V600E) oncogenic mutation induces the most aggressive phenotype. In this way, considering that lncRNAs are arising as key players in oncogenesis, it is of high interest the identification of BRAF(V600E)-associated long noncoding RNAs, which can provide possible candidates for secondary mechanisms of BRAF-induced malignancy in PTC. In this study, we identified differentially expressed lncRNAs correlated with BRAF(V600E) in PTC and, also, extended the cohort of paired normal and PTC samples to more accurately identify differentially expressed lncRNAs between these conditions...
May 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28489985/preclinical-evaluation-of-the-imipridone-family-analogues-of-clinical-stage-anti-cancer-small-molecule-onc201-reveals-potent-anti-cancer-effects-of-onc212
#13
Jessica Wagner, Christina Leah Kline, Marie D Ralff, Avital Lev, Amriti Lulla, Lanlan Zhou, Gary L Olson, Bhaskara Rao Nallaganchu, Cyril H Benes, Joshua E Allen, Varun V Prabhu, Martin Stogniew, Wolfgang Oster, Wafik S El-Deiry
Anti-cancer small molecule ONC201 upregulates the integrated stress response (ISR) and acts as a dual inactivator of Akt/ERK, leading to TRAIL gene activation. ONC201 is under investigation in multiple clinical trials to treat patients with cancer. Given the unique imipridone core chemical structure of ONC201, we synthesized a series of analogues to identify additional compounds with distinct therapeutic properties. Several imipridones with a broad range of in vitro potencies were identified in an exploration of chemical derivatives...
May 10, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28488545/determination-of-braf-v600e-ve1-protein-expression-and-braf-gene-mutation-status-in-codon-600-in-borderline-and-low-grade-ovarian-cancers
#14
Pawel Sadlecki, Pawel Walentowicz, Magdalena Bodnar, Andrzej Marszalek, Marek Grabiec, Malgorzata Walentowicz-Sadlecka
Epithelial ovarian tumors are a group of morphologically and genetically heterogeneous neoplasms. Based on differences in clinical phenotype and genetic background, ovarian neoplasms are classified as low-grade and high-grade tumor. Borderline ovarian tumors represent approximately 10%-20% of all epithelial ovarian masses. Various histological subtypes of ovarian malignancies differ in terms of their risk factor profiles, precursor lesions, clinical course, patterns of spread, molecular genetics, response to conventional chemotherapy, and prognosis...
May 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28486243/mgmt-methylation-correlates-with-melphalan-pelvic-perfusion-survival-in-stage-iii-melanoma-patients-a-pilot-study
#15
Stefano Guadagni, Giammaria Fiorentini, Marco Clementi, Giancarlo Palumbo, Francesco Masedu, Marcello Deraco, Giovanni De Manzoni, Alessandro Chiominto, Marco Valenti, Cristina Pellegrini
Approximately 25% of melanoma patients with locoregional metastases are nonresponsive to new molecular target therapy and immunotherapy. When metastases are located in the pelvis, melphalan hypoxic perfusion can be an optional treatment. Because methylation of MGMT promoter increases the efficacy of alkylating agents, studies on melanoma outcome of patients treated with melphalan regional chemotherapy should consider this epigenetic change. This study aims to evaluate whether the survival of stage III melanoma patients treated with melphalan regional chemotherapy may be correlated with MGMT methylation status...
May 10, 2017: Melanoma Research
https://www.readbyqxmd.com/read/28486044/non-v600-braf-mutations-define-a-clinically-distinct-molecular-subtype-of-metastatic-colorectal-cancer
#16
Jeremy C Jones, Lindsay A Renfro, Humaid O Al-Shamsi, Alexa B Schrock, Andrew Rankin, Ben Y Zhang, Pashtoon M Kasi, Jesse S Voss, Alexis D Leal, James Sun, Jeffrey Ross, Siraj M Ali, Joleen M Hubbard, Benjamin R Kipp, Robert R McWilliams, Scott Kopetz, Robert A Wolff, Axel Grothey
Purpose Molecular diagnostic testing has become an integral part of the evaluation of patients with metastatic colorectal cancer (CRC). Expanded mutational testing, such as next-generation sequencing (NGS), often identifies mutations with unclear clinical or prognostic implications. One such example is BRAF mutations that occur outside of codon 600 ((non-V600) BRAF mutations). Methods We conducted this multicenter, retrospective cohort study to characterize the clinical, pathologic, and survival implications of (non-V600) BRAF mutations in metastatic CRC...
May 9, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28480077/combined-dabrafenib-and-trametinib-treatment-in-a-case-of-chemotherapy-refractory-extrahepatic-braf-v600e-mutant-cholangiocarcinoma-dramatic-clinical-and-radiological-response-with-a-confusing-synchronic-new-liver-lesion
#17
Judit Kocsis, Anita Árokszállási, Csilla András, Ingrid Balogh, Edit Béres, Júlia Déri, István Peták, Levente Jánváry, Zsolt Horváth
Since the prognosis of advanced cholangiocarcinoma (CCA) remains poor with traditional chemotherapy, attention has shifted to molecularly targeted agents. Results of available clinical studies reveal little or no benefit of using targeted agents in advanced CCA. Limitations of these trials could be the lack of comprehensive molecular and genetic characterization of CCA samples in order to identify potential drug targets. Here we report a case of a 59-year-old female with chemotherapy-refractor, metastatic extrahepatic cholangiocarcinoma (EHCCA)...
April 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28475671/dabrafenib-plus-trametinib-versus-dabrafenib-monotherapy-in-patients-with-metastatic-braf-v600e-k-mutant-melanoma-long-term-survival-and-safety-analysis-of-a-phase-3-study
#18
G V Long, K T Flaherty, D Stroyakovskiy, H Gogas, E Levchenko, F de Braud, J Larkin, C Garbe, T Jouary, A Hauschild, V Chiarion-Sileni, C Lebbe, M Mandalà, M Millward, A Arance, I Bondarenko, J B A G Haanen, J Hansson, J Utikal, V Ferraresi, P Mohr, V Probachai, D Schadendorf, P Nathan, C Robert, A Ribas, M A Davies, S R Lane, J J Legos, B Mookerjee, J-J Grob
Background: Previous analysis of COMBI-d (NCT01584648) demonstrated improved progression-free survival (PFS) and overall survival (OS) with combination dabrafenib and trametinib versus dabrafenib monotherapy in BRAF V600E/K-mutant metastatic melanoma. This study was continued to assess 3-year landmark efficacy and safety after ≥36-month follow-up for all living patients. Patients and methods: This double-blind, phase 3 study enrolled previously untreated patients with BRAF V600E/K-mutant unresectable stage IIIC or stage IV melanoma...
May 5, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28472910/helix-coil-transition-signatures-braf-v600e-mutation-and-virtual-screening-for-inhibitors-directed-against-mutant-braf
#19
Srinivas Bandaru, Tharaparambil Gangadharan Sumithnath, Saphy Sharda, Sanskruti Lakhotia, Anudeep Sharma, Amrita Jain, Tajamul Hussain, Anuraj Nayarisseri, Sanjeev Kumar Singh
Mutation in the B RAF at V600E has been well implicated in the carcinogenesis that makes it as an attractive therapeutic target. In the present study, we sought to identify the basis of V600E mutation at functional and structural grounds. The study also pursues to identify a candidate molecule with better pharmacological profiles than existing BRAF inhibitors through computational approaches. The functional effects of V600E mutation was predicted using SIFT and Polyphen servers. Protein structural alterations were predicted using SDM server and RMSD calculations...
May 2, 2017: Current Drug Metabolism
https://www.readbyqxmd.com/read/28470797/screening-for-mismatch-repair-deficiency-in-colorectal-cancer-data-from-three-academic-medical-centers
#20
Grainne M O'Kane, Éanna Ryan, Terri P McVeigh, Ben Creavin, John Mp Hyland, Diarmuid P O'Donoghue, Denise Keegan, Robert Geraghty, Delia Flannery, Carmel Nolan, Emily Donovan, Brian J Mehigan, Paul McCormick, Cian Muldoon, Michael Farrell, Conor Shields, Niall Mulligan, Michael John Kennedy, Andrew J Green, Desmond C Winter, Padraic MacMathuna, Kieran Sheahan, David J Gallagher
Reflex immunohistochemistry (rIHC) for mismatch repair (MMR) protein expression can be used as a screening tool to detect Lynch Syndrome (LS). Increasingly the mismatch repair-deficient (dMMR) phenotype has therapeutic implications. We investigated the pattern and consequence of testing for dMMR in three Irish Cancer Centres (CCs). CRC databases were analyzed from January 2005-December 2013. CC1 performs IHC upon physician request, CC2 implemented rIHC in November 2008, and CC3 has been performing rIHC since 2004...
May 3, 2017: Cancer Medicine
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