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https://www.readbyqxmd.com/read/28810295/-utility-and-evaluation-of-immunohistochemical-detection-of-braf-v600e-mutation-in-melanoma
#1
J J Lyu, Y Y Kong, X Cai, X X Shen, Y W Lu, M Ren
Objective: To evaluate the sensitivity, specificity and clinical value of anti-BRAF V600E antibody (clone VE1) in detection of the BRAF V600E mutant in formalin-fixed and paraffin-embedded (FFPE) melanoma specimens by immunohistochemical (IHC) methods. Methods: A total of 50 melanoma samples collected between 2008 and 2016 from 40 patients were analyzed for BRAF mutation (exon 15) by DNA sequencing using FFPE. These tissues were immunostained with VE1 antibody, and the results were analyzed and compared with those by DNA sequencing...
August 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28808756/relationship-between-18-f-fluorodeoxyglucose-accumulation-and-the-braf-v600e-mutation-in-papillary-thyroid-cancer
#2
Jae Won Chang, Ki Wan Park, Jae Hyung Heo, Seung-Nam Jung, Lihua Liu, Sung Min Kim, In Sun Kwon, Bon Seok Koo
BACKGROUND: To determine whether (18)F-fluoro-2-deoxyglucose ((18)F-FDG)-PET/CT is useful for predicting the BRAF (V600E) mutation status of a primary papillary thyroid carcinoma (PTC). METHODS: A retrospective analysis was performed in 108 patients who underwent (18)F-FDG positron emission tomography-computed tomography (PET/CT) for staging before thyroidectomy and BRAF analysis in biopsy-confirmed PTC. The maximum standardized uptake value (SUVmax) of the primary tumor was calculated according to FDG accumulation...
August 14, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28805135/intermittent-dosing-of-dabrafenib-and-trametinib-in-metastatic-brafv600e-mutated-papillary-thyroid-cancer-two-case-reports
#3
Paul S White, Anita Pudusseri, Stephanie L Lee, Omar Eton
BACKGROUND: A multi-institutional randomized Phase II trial of continuous dosing of dabrafenib with or without trametinib is ongoing in metastatic thyroid cancer. Preclinical evidence and emerging clinical experience in other cancers support evaluating intermittent dosing of these two agents to achieve more durable response, while being better tolerated and more cost effective. PATIENTS: Two consecutive patients with symptomatic, metastatic radioactive iodine (RAI) resistant BRAF V600E mutated papillary thyroid cancer and poor performance status were treated initially with dabrafenib 150mg twice daily plus trametinib 2mg once daily, first in continuous daily dosing, then in a five-week-on and three-week-off schedule...
August 12, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28800030/response-to-targeted-therapy-in-two-patients-with-metastatic-melanoma-carrying-rare-braf-exon-15-mutations-a598_t599insv-and-v600_k601delinse
#4
Aljosja Rogiers, Sara Vander Borght, Krizia Tuand, Pascal Wolter, Marguerite Stas, Veerle Boecxstaens, Marjan Garmyn, Joost J van den Oord, Peter Vandenberghe, Oliver Bechter
Concurrent BRAF-MEK inhibition improves clinical outcomes in patients with advanced BRAF V600E/K-mutant melanoma. There is currently less evidence for the efficacy of this treatment in patients with rare BRAF non-V600E/K genotypes. We report on two patients with rare BRAF exon 15 mutations - BRAF A598_T599insV and V600_K601delinsE - obtaining clinical benefit and a radiological response to inhibitors directed against the mitogen-activated protein kinase pathway. This highlights the importance of using tests that detect both V600E/K and non-V600E/K BRAF mutations to keep open the possibility of treatment with targeted therapy in patients with uncommon, yet potentially actionable, BRAF exon 15 mutations...
August 10, 2017: Melanoma Research
https://www.readbyqxmd.com/read/28791997/-eosinophilic-granuloma-of-the-parietal-bone-of-an-adult-patient-with-braf-mutation
#5
O V Dolzhansky, E M Paltseva, A A Bukaeva, E V Zaklyazminskaya, I A Spivak, D N Fedorov
The paper describes a case of eosinophilic granuloma of the parietal bone in a 32-year-old man. Histological examination revealed a large number of bean-shaped Langerhans cell histiocytes with lobed nuclei and nuclear grooves. The histiocytes alternated with the foci of obvious eosinophilic infiltration and with eosinophilic microabscesses. There were osteoclast-like multinucleated giant cells, bone resorption, and numerous bone rods covered with osteoblast chains. The histiocytes expressed CD1α, langerin, CD68, S100, and p53 (in 90...
2017: Arkhiv Patologii
https://www.readbyqxmd.com/read/28783725/a-braf-kinase-inactive-mutant-induces-lung-adenocarcinoma
#6
Patricia Nieto, Chiara Ambrogio, Laura Esteban-Burgos, Gonzalo Gómez-López, María Teresa Blasco, Zhan Yao, Richard Marais, Neal Rosen, Roberto Chiarle, David G Pisano, Mariano Barbacid, David Santamaría
The initiating oncogenic event in almost half of human lung adenocarcinomas is still unknown, a fact that complicates the development of selective targeted therapies. Yet these tumours harbour a number of alterations without obvious oncogenic function including BRAF-inactivating mutations. Inactivating BRAF mutants in lung predominate over the activating V600E mutant that is frequently observed in other tumour types. Here we demonstrate that the expression of an endogenous Braf(D631A) kinase-inactive isoform in mice (corresponding to the human BRAF(D594A) mutation) triggers lung adenocarcinoma in vivo, indicating that BRAF-inactivating mutations are initiating events in lung oncogenesis...
August 10, 2017: Nature
https://www.readbyqxmd.com/read/28775171/gliosarcomas-with-the-braf-v600e-mutation-a-report-of-two-cases-and-review-of-the-literature
#7
Leiming Wang, Jian Sun, Zhuo Li, Li Chen, Yongjuan Fu, Lihong Zhao, Li Liu, Yukui Wei, Lianghong Teng, Dehong Lu
Gliosarcoma, which is regarded as a variant of glioblastoma, is a rare malignant neoplasm of the central nervous system. Both its sarcomatous component and glial component are reported to share significant clinical and genetic similarities. However, gliosarcomas are considered to be characterised by a lack of the BRAF V600E mutation. Here, we report two cases of gliosarcoma harbouring the BRAF V600E mutation, of which one case appears to have arisen de novo, while the other likely arose from ganglioglioma. Interestingly, the BRAF V600E mutation was detected only in the glial component in the first case, but was present in both the glial and the sarcomatous components in the recurrent gliosarcoma...
August 3, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28772138/exposure-to-flame-retardant-chemicals-and-occurrence-and-severity-of-papillary-thyroid-cancer-a-case-control-study
#8
Kate Hoffman, Amelia Lorenzo, Craig M Butt, Stephanie C Hammel, Brittany Bohinc Henderson, Sanziana A Roman, Randall P Scheri, Heather M Stapleton, Julie Ann Sosa
BACKGROUND: Thyroid cancer is the fastest increasing cancer in the U.S., and papillary thyroid cancer (PTC) accounts for >80% of incident cases. Increasing exposure to flame retardant chemicals (FRs) has raised concerns about their possible role in this 'epidemic'. The current study was designed to test the hypothesis that higher exposure to FRs is associated with increased odds of PTC. METHODS: PTC patients at the Duke Cancer Institute were approached and invited to participate...
July 31, 2017: Environment International
https://www.readbyqxmd.com/read/28769567/thyroid-cancer-in-a-patient-with-lynch-syndrome-case-report-and-literature-review
#9
Monika Fazekas-Lavu, Andrew Parker, Allan D Spigelman, Rodney J Scott, Richard J Epstein, Michael Jensen, Katherine Samaras
Lynch syndrome describes a familial cancer syndrome comprising germline mutations in one of four DNA mismatch repair genes, MLH1, MSH2, MSH6, and PMS2 and is characterized by colorectal, endometrial, and other epithelial malignancies. Thyroid cancer is not usually considered to be part of the constellation of Lynch syndrome cancers nor have Lynch syndrome tumor gene mutations been reported in thyroid malignancies. This study reports a woman with Lynch syndrome (colonic cancer and a DNA mismatch repair mutation in the MSH2 gene) with a synchronous papillary thyroid cancer...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28767374/continuous-petri-nets-and-microrna-analysis-in-melanoma
#10
Giulia Russo, Marzio Pennisi, Roberta Boscarino, Francesco Pappalardo
Personalized target therapies represent one of the possible treatment strategies to fight the ongoing battle against cancer. New treatment interventions are still needed for an effective and successful cancer therapy. In this scenario, we simulated and analyzed the dynamics of BRAF V600E melanoma patients treated with BRAF inhibitors in order to find potentially interesting targets that may make standard treatments more effective in particularly aggressive tumors that may not respond to selective inhibitor drugs...
July 31, 2017: IEEE/ACM Transactions on Computational Biology and Bioinformatics
https://www.readbyqxmd.com/read/28759004/a-common-intronic-variant-of-parp1-confers-melanoma-risk-and-mediates-melanocyte-growth-via-regulation-of-mitf
#11
Jiyeon Choi, Mai Xu, Matthew M Makowski, Tongwu Zhang, Matthew H Law, Michael A Kovacs, Anton Granzhan, Wendy J Kim, Hemang Parikh, Michael Gartside, Jeffrey M Trent, Marie-Paule Teulade-Fichou, Mark M Iles, Julia A Newton-Bishop, D Timothy Bishop, Stuart MacGregor, Nicholas K Hayward, Michiel Vermeulen, Kevin M Brown
Previous genome-wide association studies have identified a melanoma-associated locus at 1q42.1 that encompasses a ∼100-kb region spanning the PARP1 gene. Expression quantitative trait locus (eQTL) analysis in multiple cell types of the melanocytic lineage consistently demonstrated that the 1q42.1 melanoma risk allele (rs3219090[G]) is correlated with higher PARP1 levels. In silico fine-mapping and functional validation identified a common intronic indel, rs144361550 (-/GGGCCC; r(2) = 0.947 with rs3219090), as displaying allele-specific transcriptional activity...
July 31, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28750524/nanolock-nanopore-facilitated-digital-diagnostics-of-cancer-driver-mutation-in-tumor-tissue
#12
Yong Wang, Kai Tian, Ruicheng Shi, Amy Gu, Michael Pennella, Lindsey Alberts, Kent S Gates, Guangfu Li, Hongxin Fan, Michael X Wang, Li-Qun Gu
Cancer driver mutations are clinically significant biomarkers. In precision medicine, accurate detection of these oncogenic changes in patients would enable early diagnostics of cancer, individually tailored targeted therapy, and precise monitoring of treatment response. Here we investigated a novel nanolock-nanopore method for single-molecule detection of a serine/threonine protein kinase gene BRAF V600E mutation in tumor tissues of thyroid cancer patients. The method lies in a noncovalent, mutation sequence-specific nanolock...
July 28, 2017: ACS Sensors
https://www.readbyqxmd.com/read/28748542/pediatric-intracerebral-histiocytic-sarcoma-with-rhabdoid-features-case-report-and-literature-review
#13
Young Hye Kim, Gie-Taek Yie, Na Rae Kim, In-Sang Jeon, Hyun Yee Cho, Jae Yeon Seok, Eung Yeop Kim, Kyu Chan Lee
A 16-year-old boy presented with marked weight loss, weakness of the left extremities and dizziness of 2 months duration and vomiting for 2 days. Brain MRI showed an approximately 6.5 × 5.3 cm-sized huge heterogeneous enhancing mass located in the corpus callosum, extending into the lateral ventricle. Open biopsy showed that the lesion consisted of lymphoplasmacytes and plump histiocytes with rhabdoid morphology, which were stained with S-100 protein, CD68 (KP1) and negative for CD1a. Histiocytic tumor was initially diagnosed...
July 27, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28745322/p53-loss-does-not-permit-escape-from-braf-v600e-induced-senescence-in-a-mouse-model-of-lung-cancer
#14
S Garnett, K L Dutchak, R V McDonough, D Dankort
Lung cancer arises through the acquisition of a number of genetic lesions, with a preponderance of activating mutations in the canonical mitogen-activated protein kinase (MAPK) cascade (RTK-RAS-RAF-MEK). Braf(V600E) expression induces benign lung adenomas that fail to progress to adenocarcinoma because of oncogene-induced senescence (OIS). Braf(V600E) expression, coupled with simultaneous p53 ablation, permits bypass of senescence and progression to lung adenocarcinoma. However, spontaneous human tumors sustain mutations in a temporally separated manner...
July 24, 2017: Oncogene
https://www.readbyqxmd.com/read/28743309/efficient-treatment-of-a-metastatic-melanoma-patient-with-a-combination-of-braf-and-mek-inhibitors-based-on-circulating-tumor-dna-analysis-a-case-report
#15
Gaelle Quéreux, Guillaume Herbreteau, Anne-Chantal Knol, Audrey Vallée, Amir Khammari, Sandrine Théoleyre, Mélanie Saint-Jean, Brigitte Dréno, Marc G Denis
BACKGROUND: Fixed tissues are the standard samples used in routine practice for molecular testing. But sometimes tissues are lacking or difficult to obtain. In these cases, circulating tumor DNA released from tumor cells can be used as an alternative source of tumor DNA. CASE PRESENTATION: We present the case of a 63-year-old Caucasian woman with a metastatic melanoma and a very poor performance status. A plasma sample was tested and the BRAF p.V600E mutation was detected...
July 25, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28738051/braf-mek-%C3%A2-inhibitor-therapy-consensus-statement-from-the-faculty-of-the-melanoma-nursing-initiative-on-managing-adverse-events-and-potential-drug-interactions
#16
Maria Czupryn, Jennifer Cisneros
BACKGROUND: BRAF/MEK inhibitor therapy improves outcomes in BRAF V600E- and V600K-mutated unresectable or metastatic melanoma. However, these regimens are associated with adverse events (AEs) that may lead to unnecessary drug modifications and discontinuations or potentially serious sequelae. In addition, drug-drug interactions (DDIs) may result in AEs or altered therapeutic efficacy.
. OBJECTIVES: This article presents consensus statements to guide nurses in the prevention, recognition, and management of AEs and potential DDIs associated with BRAF/MEK inhibitor therapy...
August 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28734697/prognostic-significance-of-hmsh2-hmsh3-and-hmsh6-expression-in-ameloblastoma
#17
Gleyson Kleber do Amaral-Silva, Celeste Sánchez-Romero, Vivian Petersen Wagner, Manoela Domingues Martins, Hélder Antônio Rebelo Pontes, Eduardo Rodrigues Fregnani, Fernando Augusto Soares, Oslei Paes de Almeida, André Caroli Rocha, Alan Roger Santos-Silva, Felipe Paiva Fonseca, Pablo Agustin Vargas
OBJECTIVE: The aim of this study was to investigate hMutS proteins in developing human tooth, ameloblastomas, and ameloblastic carcinoma and to determine whether the expression of these proteins has any prognostic potential. STUDY DESIGN: Ten cases of developing human tooth, 39 ameloblastomas, and 2 ameloblastic carcinomas were used to determine the distribution of the proteins during the process of carcinogenesis. Simultaneously, another sample of 73 ameloblastomas was arranged in tissue microarray, and their clinical, microscopic, and radiographic features; treatment outcome; presence of BRAF-V600E mutation; and follow-up data were assessed to determine the prognostic relevance of the expression of hMutS (hMSH2, hMSH3, hMSH6) and Ki-67...
June 7, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28731042/molecular-alterations-of-coexisting-thyroid-papillary-carcinoma-and-anaplastic-carcinoma-identification-of-tert-mutation-as-an-independent-risk-factor-for-transformation
#18
Naoki Oishi, Tetsuo Kondo, Aya Ebina, Yukiko Sato, Junko Akaishi, Rumi Hino, Noriko Yamamoto, Kunio Mochizuki, Tadao Nakazawa, Hiroshi Yokomichi, Koichi Ito, Yuichi Ishikawa, Ryohei Katoh
Thyroid papillary carcinoma is the most common endocrine neoplasm and generally carries a favorable prognosis. However, a small subset of papillary carcinomas transforms into anaplastic carcinoma, an undifferentiated cancer with a dismal prognosis. Recent studies using next-generation sequencing revealed the genomic landscape of papillary carcinoma and anaplastic carcinoma. However, risk factors for anaplastic transformation in papillary carcinoma remain obscure. In the present study, we investigated molecular alterations of papillary carcinoma and anaplastic carcinoma components in 27 tumors in which anaplastic carcinoma coexisted with antecedent papillary carcinoma...
July 21, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28727518/therapeutic-and-prognostic-implications-of-braf-v600e-in-pediatric-low-grade-gliomas
#19
Alvaro Lassaletta, Michal Zapotocky, Matthew Mistry, Vijay Ramaswamy, Marion Honnorat, Rahul Krishnatry, Ana Guerreiro Stucklin, Nataliya Zhukova, Anthony Arnoldo, Scott Ryall, Catriona Ling, Tara McKeown, Jim Loukides, Ofelia Cruz, Carmen de Torres, Cheng-Ying Ho, Roger J Packer, Ruth Tatevossian, Ibrahim Qaddoumi, Julie H Harreld, James D Dalton, Jean Mulcahy-Levy, Nicholas Foreman, Matthias A Karajannis, Shiyang Wang, Matija Snuderl, Amulya Nageswara Rao, Caterina Giannini, Mark Kieran, Keith L Ligon, Maria Luisa Garre, Paolo Nozza, Samantha Mascelli, Alessandro Raso, Sabine Mueller, Theodore Nicolaides, Karen Silva, Romain Perbet, Alexandre Vasiljevic, Cécile Faure Conter, Didier Frappaz, Sarah Leary, Courtney Crane, Aden Chan, Ho-Keung Ng, Zhi-Feng Shi, Ying Mao, Elizabeth Finch, David Eisenstat, Bev Wilson, Anne Sophie Carret, Peter Hauser, David Sumerauer, Lenka Krskova, Valerie Larouche, Adam Fleming, Shayna Zelcer, Nada Jabado, James T Rutka, Peter Dirks, Michael D Taylor, Shiyi Chen, Ute Bartels, Annie Huang, David W Ellison, Eric Bouffet, Cynthia Hawkins, Uri Tabori
Purpose BRAF V600E is a potentially highly targetable mutation detected in a subset of pediatric low-grade gliomas (PLGGs). Its biologic and clinical effect within this diverse group of tumors remains unknown. Patients and Methods A combined clinical and genetic institutional study of patients with PLGGs with long-term follow-up was performed (N = 510). Clinical and treatment data of patients with BRAF V600E mutated PLGG (n = 99) were compared with a large international independent cohort of patients with BRAF V600E mutated-PLGG (n = 180)...
July 20, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28722539/an-autophagy-driven-pathway-of-atp-secretion-supports-the-aggressive-phenotype-of-braf-v600e-inhibitor-resistant-metastatic-melanoma-cells
#20
Shaun Martin, Aleksandra M Dudek-Peric, Abhishek D Garg, Heleen Roose, Seyma Demirsoy, Sofie Van Eygen, Freya Mertens, Peter Vangheluwe, Hugo Vankelecom, Patrizia Agostinis
The ingrained capacity of melanoma cells to rapidly evolve towards an aggressive phenotype is manifested by their increased ability to develop drug-resistance, evident in the case of vemurafenib, a therapeutic-agent targeting BRAF(V600E). Previous studies indicated a tight correlation between heightened melanoma-associated macroautophagy/autophagy and acquired Vemurafenib resistance. However, how this vesicular trafficking pathway supports Vemurafenib resistance remains unclear. Here, using isogenic human and murine melanoma cell lines of Vemurafenib-resistant and patient-derived melanoma cells with primary resistance to the BRAF(V600E) inhibitor, we found that the enhanced migration and invasion of the resistant melanoma cells correlated with an enhanced autophagic capacity and autophagosome-mediated secretion of ATP...
July 19, 2017: Autophagy
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