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braf thyroid

Huiling He, Wei Li, Pearlly Yan, Ralf Bundschuh, Jackson A Killian, Jadwiga Labanowska, Pamela Brock, Rulong Shen, Nyla A Heerema, Albert de la Chapelle
BACKGROUND: The BRAFV600E mutation is the most common driver in papillary thyroid carcinoma (PTC) tumors. In recent years, gene fusions have also been recognized as important drivers of cancer in PTC. Previous studies have suggested that thyroid tumors with fusion genes frequently display an aggressive course. These observations prompted further exploration of gene fusions in PTC tumors. The aim was to search for previously unrecognized gene fusions using thyroid tissue samples from PTC patients...
May 16, 2018: Thyroid: Official Journal of the American Thyroid Association
Yi Gu, Nan Yang, Leping Yin, Chao Feng, Tong Liu
MicroRNA‑9 (miR‑9) is reported to be underexpressed in papillary thyroid carcinoma (PTC) tissues; however, the molecular mechanisms underlying the implication of miR‑9 in PTC have yet to be elucidated. The present study aimed to explore the potential roles of miR‑9 in PTC. PTC tissue samples and paired non‑cancerous adjacent tissues were collected from 60 patients with PTC. The human TPC‑1 thyroid gland papillary carcinoma cell line was used to investigate the molecular mechanisms underlying the roles of miR‑9 in PTC...
May 11, 2018: Molecular Medicine Reports
Guohua Shen, Ying Kou, Bin Liu, Rui Huang, Anren Kuang
PURPOSE: The BRAF mutation is the most common and specific oncogenic event in papillary thyroid carcinoma (PTC). However, its role in radioiodine therapy decision making has yet to be established. This study aimed to evaluate the impact of the BRAF mutation on the clinical response to radioiodine therapy. METHODS: This retrospective study included PTC patients who received total thyroidectomy with lymph node dissection, radioiodine therapy, and thyroid-stimulating hormone suppression between January 2012 and March 2016...
May 14, 2018: Clinical Nuclear Medicine
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
Chun-Chi Chang, Ya-Sian Chang, Hsi-Yuan Huang, Kun-Tu Yeh, Ta-Chih Liu, Jan-Gowth Chang
Among women in Taiwan, thyroid cancer is the fifth most common malignant neoplasia. However, genomic profiling of papillary thyroid cancer (PTC) cases from Taiwan has not been attempted previously. We used whole-exome sequencing to identify mutations in a cohort of 19 PTC patients. Sequencing was performed using the Illumina system; Sanger sequencing was used to validate all identified mutations. We identified new somatic mutations in APC, DICER1, LRRC8D and NDRG1. We also found somatic mutations in ARID5A, CREB3L2, MDM4, PPP2R5A and TFPT; mutations in these genes had been found previously in other tumors, but had not been described previously in PTC...
May 9, 2018: Human Pathology
Maria Cabanillas, Renata Ferrarotto, Adam Garden, Salmaan Ahmed, Naifa Busaidy, Ramona Dadu, Michelle D Williams, Heath Skinner, Brandon Gunn, Horiana Grosu, Priyanka C Iyer, Marie-Claude Hofmann, Mark Zafereo
Anaplastic thyroid cancer (ATC) is a devastating disease with a dismal prognosis. Patients who have disease confined to the thyroid and who are able to undergo complete surgery and chemoradiation stand the best chance for survival. Unfortunately, nearly 50% of patients at diagnosis have distant metastases at diagnosis and most present with locally advanced, unresectable tumors. Nevertheless, BRAF-mutated ATC patients represent a subset of cases who can benefit from a combination therapy with BRAF and /MEK inhibitors...
May 10, 2018: Thyroid: Official Journal of the American Thyroid Association
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
Na-Na Zhao, Cheng Wang, Cheng-Cai Lai, Si-Jie Cheng, Jin Yan, Zhi-Xian Hong, Lin-Xiang Yu, Zhen-Yu Zhu, Pei-Rui Zhang, Zhao-Hai Wang, Xi-Liang Wang, Shao-Geng Zhang, Peng-Hui Yang
Long non-coding RNAs (lncRNAs) have been investigated as a novel class of regulators of cellular processes, including cell growth, apoptosis and carcinogenesis. lncRNA BRAF-activated non-protein coding RNA (BANCR) has recently been revealed to be involved in tumorigenesis of numerous types of cancer, including papillary thyroid carcinoma, melanoma, non-small cell lung cancer and colorectal cancer. However, the expression profiles and biological relevance of lncRNA BANCR in hepatocellular carcinoma (HCC) has not yet been reported...
May 2018: Oncology Letters
Chan Kwon Jung, Yourha Kim, Sora Jeon, Kwanhoon Jo, Sohee Lee, Ja Seong Bae
Follicular-patterned tumors of the thyroid gland are characterized by a predominantly follicular growth pattern. They frequently harbor RAS mutations, not BRAF mutations. Technological advances in molecular testing have discovered novel RAS-type mutations. However, clinical significance of these mutations remains unknown. We investigated the prevalence and clinical impact of mutations of BRAF, NRAS, HRAS, KRAS, EZH1, EIF1AX, and TERT genes by Sanger sequencing in a series of 201 follicular-patterned thyroid tumors including follicular adenoma (n=40), Hürthle cell adenoma (n=54), noninvasive follicular thyroid neoplasms with papillary-like nuclear features (n=50), follicular thyroid carcinoma (n=40), Hürthle cell carcinoma (n=10), and poorly differentiated thyroid carcinoma arising in a well differentiated follicular neoplasm (n=7), and 120 classic papillary carcinoma...
April 30, 2018: Human Pathology
Emilia Vuttariello, Elio Biffali, Raimondo Pannone, Anna Capiluongo, Mario Monaco, Valentina Sica, Concetta Aiello, Marco Matuozzo, Maria Grazia Chiofalo, Gerardo Botti, Gennaro Chiappetta
Thyroid cancer is the most common malignancy of the endocrine system and includes well-differentiated forms, namely papillary and follicular carcinomas, and the poorly differentiated and undifferentiated forms that result from the transformation of thyroid follicular cells (anaplastic carcinomas). Notably, 5-10% of all thyroid cancers are medullary thyroid cancers that arise from parafollicular cells also known as C cells. The most common genetic mutations in papillary and follicular thyroid cancers are point mutations of the BRAF or RAS genes, while the most common chromosomal alterations are RET/PTC and PAX8/PPARγ rearrangements...
April 10, 2018: Oncotarget
Azliana Mohamad Yusof, Rahman Jamal, Rohaizak Muhammad, Shahrun Niza Abdullah Suhaimi, Isa Mohamed Rose, Sazuita Saidin, Nurul-Syakima Ab Mutalib
The incidence rate of papillary thyroid carcinoma (PTC) has rapidly increased in the recent decades, and the microRNA (miRNA) is one of the potential biomarkers in this cancer. Despite good prognosis, certain features such as lymph node metastasis (LNM) and BRAF V600E mutation are associated with a poor outcome. More than 50% of PTC patients present with LNM and BRAF V600E is the most common mutation identified in this cancer. The molecular mechanisms underlying these features are yet to be elucidated. This study aims to elucidate miRNA-genes interaction networks in PTC with or without LNM and to determine the association of BRAF V600E mutation with miRNAs and genes expression profiles...
2018: Frontiers in Endocrinology
E Macerola, T Rago, A Proietti, F Basolo, P Vitti
PURPOSE: Fine-needle aspiration (FNA) cytology is a mainstay in the evaluation of thyroid nodules, but fails to reach reliable results in 25-30% of cases. The role of molecular markers in helping clinical decisions has been investigated for the last years, but their clinical usefulness is still unsettled. METHODS: Mutation analysis of BRAF, RAS genes and TERT promoter was performed in a series of 617 consecutive cytological specimens undergoing FNA. RESULTS: The 617 nodules had the following cytological diagnosis: non diagnostic 22 (3...
April 27, 2018: Journal of Endocrinological Investigation
Hui Chen, Rajyalakshmi Luthra, Mark J Routbort, Keyur P Patel, Maria E Cabanillas, Russell R Broaddus, Michelle D Williams
Next generation sequencing (NGS) for molecular diagnostics allows simultaneous testing of activating oncogenes and tumor suppressor mutations in multiple signal pathways. Extended mutational profiling of advanced thyroid cancers may enhance considerations for targeted therapies. We analyzed clinically derived molecular profiling of 216 patients with advanced thyroid carcinoma using NGS (Ion Torrent Personal Genome Machine) from 4/2012-2/2014. We examined substitutions and small indels in 46/50 cancer-related genes using Ampliseq Cancer Hotspot panel in respect to tumor diagnosis and clinical correlations...
April 25, 2018: Molecular Cancer Therapeutics
Jinjun Zhang, Yaying Du, Xiaoxue Zhang, Mengchen Li, Xingrui Li
Recent evidence indicates that long non-coding RNAs play important roles in tumorigenesis and cancer progression. BRAF -activated non-protein coding RNA ( BANCR ) is a novel and potential regulator of cancer cell proliferation and migration. However, little is known regarding the role of BANCR in papillary thyroid cancer (PTC). The current study used quantitative PCR to demonstrate that BANCR was significantly downregulated in 60 paired PTC tissues compared with normal tissues. In addition, BANCR was significantly correlated with lymph node metastasis ( p = 0...
2018: Journal of Cancer
Yanhua Bai, Ting Guo, Xiaozheng Huang, Qi Wu, Dongfeng Niu, Xinqiang Ji, Qin Feng, Zhongwu Li, Kennichi Kakudo
Immune checkpoint inhibitor therapies targeting PD-L1/PD-1 have been shown to be effective in treating several types of human cancer. In papillary thyroid carcinoma (PTC), little is known about the expression of PD-L1/PD-1 in the tumor microenvironment or its potential correlation with BRAF V600E mutation status. In this study, we examined the expression of PD-L1, PD-1, and BRAF V600E in PTC by immunohistochemistry and investigated the clinical significance of expression status. We studied the expression of PD-L1, PD-1, and BRAF V600E by immunohistochemical staining in 110 cases of PTC with a diameter > 1 cm...
April 12, 2018: Virchows Archiv: An International Journal of Pathology
Anil K D'Cruz, Richa Vaish, Abhishek Vaidya, Iain J Nixon, Michelle D Williams, Vincent Vander Poorten, Fernando López, Peter Angelos, Ashok R Shaha, Avi Khafif, Alena Skalova, Alessandra Rinaldo, Jennifer L Hunt, Alfio Ferlito
PURPOSE: Thyroid nodules are of common occurrence in the general population. About a fourth of these nodules are indeterminate on aspiration cytology placing many a patient at risk of unwanted surgery. The purpose of this review is to discuss various molecular markers described to date and place their role in proper perspective. This review covers the fundamental role of the signaling pathways and genetic changes involved in thyroid carcinogenesis. The current literature on the prognostic significance of these markers is also described...
April 6, 2018: European Archives of Oto-rhino-laryngology
Yongsheng Jia, Cuicui Zhang, Chuanxiang Hu, Yang Yu, Xiangqian Zheng, Yigong Li, Ming Gao
BRAF V600E is the most common genetic alteration in thyroid cancer and is indicative of a relatively poor prognosis. A selective inhibitor of BRAF V600E has been proposed as a novel treatment for patients with thyroid cancer exhibiting BRAF V600E mutations. However, this inhibitor has demonstrated a limited therapeutic effect. In the present study, possible adaptive mechanisms of resistance of thyroid cancer cells to the specific BRAF V600E inhibitor, PLX4032, were investigated. MTT assays were performed to determine the anti-proliferative efficiencies and half maximal inhibitory concentration (IC50 ) of inhibitory treatments...
May 2018: Oncology Letters
Jong-Kyu Kim, Chan Yong Seong, In Eui Bae, Jin Wook Yi, Hyeong Won Yu, Su-Jin Kim, Jae-Kyung Won, Young Jun Chai, June Young Choi, Kyu Eun Lee
BACKGROUND: BRAFV600E mutation is the most common somatic variant in papillary thyroid carcinoma (PTC) and is associated with aggressive prognostic factors. The conventional detection method for BRAF mutations is polymerase chain reaction followed by Sanger sequencing. Recently, an immunohistochemistry (IHC) method using a BRAFV600E -specific antibody (VE1) has been developed and widely adopted in the clinics; however, there is a lack of evidence regarding the comparability of the IHC and Sanger sequencing methods...
April 2, 2018: Annals of Surgical Oncology
Xia Wu, Lu Gao, Xiaopeng Guo, Qiang Wang, Zihao Wang, Wei Lian, Wei Liu, Jian Sun, Bing Xing
Purpose: To determine the prevalence, risk factors, and possible mechanisms of structural and endocrinological changes to the thyroid in acromegaly. Methods: We studied 93 acromegalic patients from PUMCH between January 2013 and December 2013. The demographic and clinical information were recorded. Specimens of pituitary adenomas and thyroid cancer were collected for BRAF mutation assessments. Results: Thyroid morphological abnormalities were found in 72 (77...
2018: International Journal of Endocrinology
Daniel N Johnson, Larissa V Furtado, Bradley C Long, Chao Jie Zhen, Michelle Wurst, Ibro Mujacic, Sabah Kadri, Jeremy P Segal, Tatjana Antic, Nicole A Cipriani
CONTEXT: - Proposed noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTPs), formerly noninvasive encapsulated papillary carcinoma, follicular variant (PTC-FV), is an indolent tumor with follicular growth and frequent RAS mutations. OBJECTIVE: - To detect histologic and molecular differences separating NIFTP from follicular adenomas (FAs) and invasive carcinomas, particularly papillary carcinomas with extensive follicular growth (PTC-EFGs) and invasive encapsulated PTC-FV (IE-PTC-FV)...
March 27, 2018: Archives of Pathology & Laboratory Medicine
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