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https://www.readbyqxmd.com/read/28718951/response-to-therapy-of-papillary-thyroid-cancer-of-known-braf-status
#1
Aldona Kowalska, Agnieszka Walczyk, Artur Kowalik, Iwona Pałyga, Danuta Gąsior-Perczak, Tomasz Trybek, Janusz Kopczyński, Maciej Kajor, Estera Mikina, Monika Szymonek, Klaudia Gadawska-Juszczyk, Dorota Szyska-Skrobot, Katarzyna Lizis-Kolus, Stefan Hurej, Magdalena Chrapek, Małgorzata Chłopek, Stanisław Góźdź
CONTEXT: A dynamic risk stratification with modified initial estimated risk based on response to therapy and disease course is one of the crucial changes adopted recently by the American Thyroid Association (ATA). This approach focuses on an individualized risk-adapted approach to the management of differentiated thyroid cancer. The BRAF V600E mutation is the most common genetic alteration in papillary thyroid cancer (PTC). However, the prognostic value of this mutation remains unclear...
July 18, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28714990/an-approach-to-suppress-the-evolution-of-resistance-in-braf-v600e-mutant-cancer
#2
Yaohua Xue, Luciano Martelotto, Timour Baslan, Alberto Vides, Martha Solomon, Trang Thi Mai, Neelam Chaudhary, Greg J Riely, Bob T Li, Kerry Scott, Fabiola Cechhi, Ulrika Stierner, Kalyani Chadalavada, Elisa de Stanchina, Sarit Schwartz, Todd Hembrough, Gouri Nanjangud, Michael F Berger, Jonas Nilsson, Scott W Lowe, Jorge S Reis-Filho, Neal Rosen, Piro Lito
The principles that govern the evolution of tumors exposed to targeted therapy are poorly understood. Here we modeled the selection and propagation of an amplification in the BRAF oncogene (BRAF(amp)) in patient-derived tumor xenografts (PDXs) that were treated with a direct inhibitor of the kinase ERK, either alone or in combination with other ERK signaling inhibitors. Single-cell sequencing and multiplex fluorescence in situ hybridization analyses mapped the emergence of extra-chromosomal amplification in parallel evolutionary trajectories that arose in the same tumor shortly after treatment...
July 17, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28711990/assessment-of-braf-v600e-mutation-in-pulmonary-langerhans-cell-histiocytosis-in-tissue-biopsies-and-bronchoalveolar-lavages-by-droplet-digital-polymerase-chain-reaction
#3
Clémence Pierry, Charline Caumont, Elodie Blanchard, Camille Brochet, Gael Dournes, Audrey Gros, Thomas Bandres, Séverine Verdon, Marion Marty, Hugues Bégueret, Jean-Philippe Merlio
The neoplastic nature of pulmonary Langerhans cell histiocytosis (PLCH) is still debated. As the detection of BRAF (V600E) and MAP2K1 mutations in patients with PCLH is now considered for such assessment, the aim of our study was to evaluate digital droplet polymerase chain reaction (ddPCR) in PCLH diagnosis. We retrospectively analyzed BRAF(V600E) detection in a cohort of 42 PCLH tissues and 18 bronchoalveolar lavages (BALs) by ddPCR, immunohistochemistry, high-resolution melting PCR (HRM), and next-generation sequencing (NGS)...
July 15, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28710706/synchronous-and-metastatic-papillary-and-follicular-thyroid-carcinomas-with-unique-molecular-signatures
#4
Vincent Cracolici, Ibro Mujacic, Sabah Kadri, Mir Alikhan, Nifang Niu, Jeremy P Segal, Lauren E Rosen, David H Sarne, Adam Morgan, Samy Desouky, Nicole A Cipriani
Despite the relatively high prevalence of thyroid cancer, the occurrence of multiple synchronous, distinct subtypes of primary thyroid carcinoma is uncommon. The incidental finding of papillary thyroid microcarcinoma in a gland with a biologically relevant follicular or medullary carcinoma is more frequent than the synchronous occurrence of multiple clinically significant carcinomas. We report a case of synchronous papillary and follicular thyroid carcinomas metastatic to lymph node and bone, respectively. Next generation sequencing showed BRAF V600E mutation in the primary papillary carcinoma and NRAS Q61R mutation in the primary follicular carcinoma and bony metastasis...
July 14, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28708099/role-played-by-signalling-pathways-in-overcoming-braf-inhibitor-resistance-in-melanoma
#5
REVIEW
Xian Yang Chan, Alamdeep Singh, Narin Osman, Terrence J Piva
The discovery of the BRAF(V600E) mutation led to the development of vemurafenib (PLX4032), a selective BRAF inhibitor specific to the kinase, for the treatment of metastatic melanomas. However, initial success of the drug was dampened by the development of acquired resistance. Melanoma was shown to relapse in patients following treatment with vemurafenib which eventually led to patients' deaths. It has been proposed that mechanisms of resistance can be due to (1) reactivation of the mitogen-activated protein kinase (MAPK) signalling pathway via secondary mutations, amplification or activation of target kinase(s), (2) the bypass of oncogenic pathway via activation of alternative signalling pathways, (3) other uncharacterized mechanisms...
July 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28707994/do-craniopharyngioma-molecular-signatures-correlate-with-clinical-characteristics
#6
Sacit Bulent Omay, Yu-Ning Chen, Joao Paulo Almeida, Armando Saul Ruiz-Treviño, John A Boockvar, Philip E Stieg, Jeffrey P Greenfield, Mark M Souweidane, Ashutosh Kacker, David J Pisapia, Vijay K Anand, Theodore H Schwartz
OBJECTIVE Exome sequencing studies have recently demonstrated that papillary craniopharyngiomas (PCPs) and adamantinomatous craniopharyngiomas (ACPs) have distinct genetic origins, each primarily driven by mutually exclusive alterations: either BRAF ( V600E), observed in 95% of PCPs, or CTNNB1, observed in 75%-96% of ACPs. How the presence of these molecular signatures, or their absence, correlates with clinical, radiographic, and outcome variables is unknown. METHODS The pathology records for patients who underwent surgery for craniopharyngiomas between May 2000 and March 2015 at Weill Cornell Medical College were reviewed...
July 14, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28699883/familial-melanoma-astrocytoma-syndrome-synchronous-diffuse-astrocytoma-and-pleomorphic-xanthoastrocytoma-in-a-patient-with-germline-cdkn2a-b-deletion-and-a-significant-family-history
#7
Andrew K Chan, Seunggu J Han, Winward Choy, Daniah Beleford, Manish K Aghi, Mitchel S Berger, Joseph T Shieh, Andrew W Bollen, Arie Perry, Joanna J Phillips, Nicholas Butowski, David A Solomon
Familial melanoma-astrocytoma syndrome is a tumor predisposition syndrome caused by inactivating germline alteration of the CDKN2A tumor suppressor gene on chromosome 9p21. While some families with germline CDKN2A mutations are prone to development of just melanomas, other families develop both melanomas, astrocytomas, and occasionally other nervous-system neoplasms including peripheral nerve sheath tumors and meningiomas. The histologic spectrum of the astrocytomas that arise as part of this syndrome is not well described, nor are the additional genetic alterations that drive these astrocytomas apart from the germline CDKN2A inactivation...
July 12, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28689173/current-understanding-and-management-of-pulmonary-langerhans-cell-histiocytosis
#8
Robert Vassallo, Sergio Harari, Abdellatif Tazi
Pulmonary Langerhans cell histiocytosis (PLCH) is a diffuse lung disease that usually affects young adult smokers. PLCH affects different lung compartments; bronchiolar, interstitial and pulmonary vascular dysfunction may coexist to varying extents, resulting in diverse phenotypes. Analyses of PLCH tissues have identified activating mutations of specific mitogen-activated protein kinases (BRAF(V600E) and others). The current consensus is that PLCH represents a myeloid neoplasm with inflammatory properties: the myeloid tumour cells exhibit surface CD1a expression and up to 50% of the cells harbour activating BRAF or other MAPK mutations...
July 8, 2017: Thorax
https://www.readbyqxmd.com/read/28687736/association-between-braf-v600e-mutation-and-ultrasound-features-in-papillary-thyroid-carcinoma-patients-with-and-without-hashimoto-s-thyroiditis
#9
Qin Zhang, Bo-Ji Liu, Wei-Wei Ren, Ya-Ping He, Xiao-Long Li, Chong-Ke Zhao, Yi-Feng Zhang, Wen-Wen Yue, Jia-Yi Zheng, Hui-Xiong Xu
To assess the association between BRAF V600E mutation and ultrasound (US) features in papillary thyroid carcinoma (PTC) patients with and without Hashimoto's thyroiditis (HT). We retrospectively reviewed the US features and status of BRAF V600E mutation in 438 consecutive patients with surgically confirmed PTCs. The association between BRAF mutation and US features were analyzed. In addition, we conducted subgroup analyses in terms of coexistent HT. The BRAF mutation was found in 86.5% of patients (379 of 438)...
July 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28687443/ganglioglioma-of-brain-stem-and-cervicomedullary-junction-a-50years-review-of-literature
#10
REVIEW
M Burhan Janjua, Iryna Ivasyk, David J Pisapia, Mark M Souweidane
Gangliogliomas are rare low-grade brain tumors composed of both neoplastic glial and neuronal cell elements. The treatment modalities are relatively different in this location and hence factors affecting outcome are poorly understood. We identified 142 brain stem GG patients across 46 studies. The average age was 11.4years with significant difference b/w males and females under the age of 20 (p=0.001). 100% of tumors in the CMJ while, 72% of type I and 86% of type II tumors demonstrated contrast enhancement...
July 4, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28686121/surgical-and-molecular-considerations-in-the-treatment-of-pediatric-thalamopeduncular-tumors
#11
Ryan P Lee, Kimberly A Foster, Jock C Lillard, Paul Klimo, David W Ellison, Brent Orr, Frederick A Boop
OBJECTIVE Thalamopeduncular tumors are a group of pediatric low-grade gliomas that arise at the interface of the thalamus and brainstem peduncle. They typically occur within the first 2 decades of life, presenting with progressive spastic hemiparesis. Treatment strategies, including surgical intervention, have varied significantly. The authors present their experience in the treatment of 13 children, ages 2-15 years, with non-neurofibromatosis-related pilocytic astrocytomas located in the thalamopeduncular region...
July 7, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28681580/retrospective-cytological-evaluation-of-indeterminate-thyroid-nodules-according-to-the-british-thyroid-association-2014-classification-and-comparison-of-clinical-evaluation-and-outcomes
#12
Massimo Giusti, Barbara Massa, Margherita Balestra, Paola Calamaro, Stefano Gay, Simone Schiaffino, Giovanni Turtulici, Simonetta Zupo, Eleonora Monti, Gianluca Ansaldo
The cytology of 130 indeterminate nodules (Thy 3) was retrospectively reviewed according to the British Thyroid Association 2014 classification. Nodules were divided into Thy 3a (atypical features) and Thy 3f (follicular lesion) categories. Histology was available as a reference for 97 nodules. Pre-surgical evaluations comprised biochemical tests, color-Doppler ultrasonography (US), semi-quantitative elastography-US (USE), contrast-enhanced US (CEUS), and mutation analysis from cytological slides. Thyroid malignancy was the final diagnosis for 19% of surgically-treated nodules...
July 2017: Journal of Zhejiang University. Science. B
https://www.readbyqxmd.com/read/28674184/steady-state-levels-of-phosphorylated-mitogen-activated-protein-kinase-kinase-1-2-determined-by-mortalin-hspa9-and-protein-phosphatase-1-alpha-in-kras-and-braf-tumor-cells
#13
Pui-Kei Wu, Seung-Keun Hong, Jong-In Park
Although deregulation of MEK/ERK activity is a key feature in cancer, high magnitude MEK/ERK activity can paradoxically induce growth inhibition. Therefore, additional mechanisms may exist to modulate MEK/ERK activity in favor of tumor cell proliferation. We previously reported that mortalin/HSPA9 can facilitate proliferation of certain KRAS- and BRAF-tumor cells by modulating MEK/ERK activity. In this study, we demonstrate that mortalin can regulate MEK/ERK activity via protein phosphatase 1α (PP1α). We found that PP1α inhibition increases steady-state levels of phosphorylated MEK1/2 in various tumor cells expressing B-Raf(V600E) or K-Ras(G12D/V) Intriguingly, co-immunoprecipitation and in vitro binding assays revealed that mortalin facilitates PP1α-mediated MEK1/2 dephosphorylation by promoting PP1α-MEK1/2 interaction in an ATP-sensitive manner...
July 3, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28669023/pooled-analysis-of-clinical-outcome-of-patients-with-chemorefractory-metastatic-colorectal-cancer-treated-within-phase-i-ii-clinical-studies-based-on-individual-biomarkers-of-susceptibility-a-single-institution-experience
#14
Andrea Sartore-Bianchi, Alessio Amatu, Erica Bonazzina, Stefano Stabile, Laura Giannetta, Giulio Cerea, Ilaria Schiavetto, Katia Bencardino, Chiara Funaioli, Riccardo Ricotta, Tiziana Cipani, Michele Schirru, Valentina Gambi, Laura Palmeri, Giulia Carlo-Stella, Francesca Rusconi, Sara Di Bella, Giovanni Burrafato, Andrea Cassingena, Emanuele Valtorta, Calogero Lauricella, Federica Pazzi, Alessandra Gambaro, Silvia Ghezzi, Giovanna Marrapese, Emiliana Tarenzi, Silvio Veronese, Mauro Truini, Angelo Vanzulli, Salvatore Siena
BACKGROUND: Patients with metastatic colorectal cancer (mCRC) refractory to standard therapies have a poor prognosis. In this setting, recruitment into clinical trials is warranted, and studies driven by selection according to individual tumor molecular characteristics are expected to provide added value. OBJECTIVE: We retrospectively analyzed data from patients with mCRC refractory to or following failure of standard therapies who were enrolled into phase I/II clinical studies at the Niguarda Cancer Center based on the presence of a specific molecular profile expected to represent the target of susceptibility to the experimental drug(s)...
July 1, 2017: Targeted Oncology
https://www.readbyqxmd.com/read/28668077/variation-of-mutant-allele-frequency-in-nras-q61-mutated-melanomas
#15
Zofia Hélias-Rodzewicz, Elisa Funck-Brentano, Nathalie Terrones, Alain Beauchet, Ute Zimmermann, Cristi Marin, Philippe Saiag, Jean-François Emile
BACKGROUND: Somatic mutations of BRAF or NRAS activating the MAP kinase cell signaling pathway are present in 70% of cutaneous melanomas. The mutant allele frequency of BRAF V600E (M%BRAF) was recently shown to be highly heterogeneous in melanomas. The present study focuses on the NRAS Q61 mutant allele frequency (M%NRAS). METHODS: Retrospective quantitative analyze of 104 NRAS mutated melanomas was performed using pyrosequencing. Mechanisms of M%NRAS imbalance were studied by fluorescence in situ hybridization (FISH) and microsatellite analysis...
July 1, 2017: BMC Dermatology
https://www.readbyqxmd.com/read/28667867/autophagy-related-protein-expression-was-associated-with-braf-v600e-mutation-in-epilepsy-associated-glioneuronal-tumors
#16
Chun-Hong Shen, Yin-Xi Zhang, Jin-Hong Xu, Qiong-Bin Zhu, Jun-Ming Zhu, Yi Guo, Yao Ding, Shuang Wang, Mei-Ping Ding
PURPOSE: The aim of this study was to explore the expression level of autophagy-related proteins in epileptic patients with glioneuronal tumors (GNTs) and evaluate the association with clinicopathological features. MATERIALS AND METHODS: We obtained the brain specimens from 33 patients with GNTs, including 22 gangliogliomas (GGs) and 11 dysembryoplastic neuroepithelial tumors (DNTs). The expression of two autophagy-related proteins (LC3B and Beclin-1) was evaluated by immunohistochemistry, and BRAF V600E mutation was examined by DNA sequencing...
June 12, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28662062/reflectance-confocal-microscopy-features-of-braf-v600e-mutated-thin-melanomas-detected-by-immunohistochemistry
#17
Ana Claudia Urvanegia, Juliana Casagrande Tavoloni Braga, Danielle Shitara, Jose Humberto Fregnani, Jose Ivanildo Neves, Clovis Antonio Pinto, Ashfaq A Marghoob, Joao Pedreira Duprat, Gisele Gargantini Rezze
The classification of melanoma into four histological subtypes has been questioned regarding its clinical validity in providing relevant information for treatment for metastatic tumors. Specific genetic alterations are associated with particular clinical and histopathological features, suggesting that these could be helpful in refining existing melanoma classification schemes. We analyzed BRAF V600E mutated melanomas to explore the Reflectance confocal microscopy (RCM) utility as a screening aid in the evaluation of the most appropriate patients for genetic testing...
2017: PloS One
https://www.readbyqxmd.com/read/28659720/the-genetics-of-papillary-microcarcinomas-of-the-thyroid-diagnostic-and-prognostic-implications
#18
REVIEW
Ana Cunha Rodrigues, Gustavo Penna, Elisabete Rodrigues, Patrícia Castro, Manuel Sobrinho-Simões, Paula Soares
Papillary microcarcinoma of the thyroid (mPTC) is defined by the WHO as a papillary thy-roid cancer measuring 10mm or less in diameter and it is nowadays a topic of intense debate among the members of the medical community due to its apparent "epidemic" rise. Although these tumors follow almost always an indolent clinical course and carry an excellent prognosis, it is known that a small sub-set may display a potentially aggressive behavior. Nevertheless, we still lack an accurate way of predict-ing those which will cause significant disease...
June 2017: Current Genomics
https://www.readbyqxmd.com/read/28656062/c-myc-is-required-for-braf-v600e-induced-epigenetic-silencing-by-h3k27me3-in-tumorigenesis
#19
Yiping Qu, Qi Yang, Juan Liu, Bingyin Shi, Meiju Ji, Gang Li, Peng Hou
BRAF(V600E) mutation is frequently found in human cancers particularly thyroid cancer and melanoma, and is involved in the regulation of gene expression through activating MAPK/Erk signaling. Trimethylation of histone 3 lysine 27 (H3K27me3) is a critical epigenetic mark for the maintenance of gene silencing in tumorigenesis. However, molecular mechanism underlying the complex interplay between these two molecular events remains to be explored. In the present study, we conducted chromatin immunoprecipitation combined with next-generation sequencing (ChIP-Seq) and expression microarray analysis in NIH3T3 cells to explore the relationship between H3K27me3 and transcriptional regulation by BRAF(V600E) mutation...
2017: Theranostics
https://www.readbyqxmd.com/read/28655712/braf-inhibitor-associated-mek-mutations-increase-raf-dependent-and-independent-enzymatic-activity
#20
Caroline M Emery, Kelli-Ann Monaco, Ping Wang, Marissa N Balak, Alyson Freeman, Jodi Meltzer, Scott Delach, Daniel Rakiec, David A Ruddy, Joshua M Korn, Jacob Haling, Michael G Acker, Giordano Caponigro
Alterations in MEK1/2 occur in cancers, both in the treatment naïve state and following targeted therapies, most notably BRAF and MEK inhibitors in BRAF-V600E mutant melanoma and colorectal cancer. Efforts were undertaken to understand the effects of these mutations, based upon protein structural location, and MEK1/2 activity. Two categories of MEK1/2 alterations were evaluated, those associated with either the allosteric pocket or helix-A. Clinically, MEK1/2 alterations of the allosteric pocket are rare and we demonstrate that they confer resistance to MEK inhibitors, whilst retaining sensitivity to BRAF inhibition...
June 27, 2017: Molecular Cancer Research: MCR
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