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https://www.readbyqxmd.com/read/28209747/pediatric-adolescent-and-young-adult-thyroid-carcinoma-harbors-frequent-and-diverse-targetable-genomic-alterations-including-kinase-fusions
#1
Pierre Vanden Borre, Alexa B Schrock, Peter M Anderson, John C Morris, Andreas M Heilmann, Oliver Holmes, Kai Wang, Adrienne Johnson, Steven G Waguespack, Sai-Hong Ignatius Ou, Saad Khan, Kar-Ming Fung, Philip J Stephens, Rachel L Erlich, Vincent A Miller, Jeffrey S Ross, Siraj M Ali
BACKGROUND: Thyroid carcinoma, which is rare in pediatric patients (age 0-18 years) but more common in adolescent and young adult (AYA) patients (age 15-39 years), carries the potential for morbidity and mortality. METHODS: Hybrid-capture-based comprehensive genomic profiling (CGP) was performed prospectively on 512 consecutively submitted thyroid carcinomas, including 58 from pediatric and AYA (PAYA) patients, to identify genomic alterations (GAs), including base substitutions, insertions/deletions, copy number alterations, and rearrangements...
February 16, 2017: Oncologist
https://www.readbyqxmd.com/read/28176151/frequent-braf-v600e-and-absence-of-tert-promoter-mutations-characterize-sporadic-pediatric-papillary-thyroid-carcinomas-in-japan
#2
Naoki Oishi, Tetsuo Kondo, Tadao Nakazawa, Kunio Mochizuki, Tomohiro Inoue, Kazunari Kasai, Ippei Tahara, Tomonori Yabuta, Mitsuyoshi Hirokawa, Akira Miyauchi, Ryohei Katoh
Pediatric papillary thyroid carcinoma (PTC) has unique features but requires further genetic investigation. Moreover, there has been increasing concern about the risk for pediatric PTC in Japan after the Fukushima accident. This study aims to evaluate the frequencies of BRAF and TERT promoter mutations and to examine their significance in non-radiation-associated pediatric PTCs in Japan. We enrolled 81 pediatric PTC patients aged ≤20 years. The control group included 91 adult PTCs from patients >20 years old...
February 7, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28160058/the-utility-of-the-bethesda-category-and-its-association-with-braf-mutation-in-the-prediction-of-papillary-thyroid-cancer-stage
#3
Augustas Beiša, Mindaugas Kvietkauskas, Virgilijus Beiša, Mindaugas Stoškus, Elvyra Ostanevičiūtė, Eugenijus Jasiūnas, Laimonas Griškevičius, Kęstutis Strupas
PURPOSE: This study aims to determine the utility of the Bethesda category and its association with BRAF mutation in prediction of the papillary thyroid cancer (PTC) stage. METHODS: A prospective study analyzed patients who had ultrasound-suspicious thyroid nodules, underwent FNA and cytological examination, and were classified according to the Bethesda system. Patients from Undetermined Significance Or Follicular Lesion Of Undetermined Significance (AUS/FLUS), Follicular Neoplasm or Suspicious for a Follicular Neoplasm (FN/SFN), Suspicious for Malignant Cells (SMC), and Positive for Malignant Cells (PMC) groups were examined for the BRAF mutation and had a thyroid surgery...
February 3, 2017: Langenbeck's Archives of Surgery
https://www.readbyqxmd.com/read/28150740/tert-promoter-mutations-and-ki-67-labeling-index-as-a-prognostic-marker-of-papillary-thyroid-carcinomas-combination-of-two-independent-factors
#4
Michiko Matsuse, Tomonori Yabuta, Vladimir Saenko, Mitsuyoshi Hirokawa, Eijun Nishihara, Keiji Suzuki, Shunichi Yamashita, Akira Miyauchi, Norisato Mitsutake
Although most papillary thyroid carcinomas (PTCs) have a good prognosis, a small but certain fraction shows aggressive behavior. Therefore, a novel and well-performing molecular marker is needed. In the present study, we assessed the impact of the combination of the TERT promoter/BRAF mutations and Ki-67 labeling index (LI) as a prognostic marker in PTC patients. Of 400 PTC samples, 354 were successfully genotyped for both TERT promoter/BRAF and analyzed for Ki-67 LI. Based on the combination of the mutational status and Ki-67 LI, the cases were categorized into three groups: high-, middle-, and low-risk...
February 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28150468/ciliated-muconodular-papillary-tumor-of-the-lung-harboring-alk-gene-rearrangement-case-report-and-review-of-the-literature
#5
Yan Jin, Xuxia Shen, Lei Shen, Yihua Sun, Haiquan Chen, Yuan Li
Ciliated muconodular papillary tumor (CMPT) of the lung is an extremely rare peripheral tumor of the lung. The pathogenesis of CMPT is still unknown, and its nature as a benign tumor or reactive process is still open to discussion. Recent studies have identified BRAF, EGFR and AKT1 mutations in CMPT, which would support a true neoplastic process. Here for the first time, we report a case of morphologically typical CMPT harboring ALK gene rearrangement to further provide convincing evidence that CMPT is a neoplastic process rather than a reactive lesion...
February 2, 2017: Pathology International
https://www.readbyqxmd.com/read/28137980/nelfinavir-inhibits-proliferation-and-induces-dna-damage-in-thyroid-cancer-cells
#6
Kirk Jensen, Athanasios D Bikas, Aneeta Patel, Yevgeniya Kushchayeva, John Costello, Dennis McDaniel, Kenneth Burman, Vasily Vasko
The HIV protease inhibitor Nelfinavir (NFV) inhibits PI3K/AKT and MAPK/ERK signaling pathways, emerging targets in thyroid cancers. We examined the effects of NFV on cancer cells that derived from follicular (FTC), papillary (PTC) and anaplastic (ATC) thyroid cancers. NFV (1-20 μM) was tested in FTC133, BCPAP and SW1736 cell lines. The effects of NFV on cell proliferation were determined in vitro using real-time microscopy and by flow cytometry. DNA damage, apoptotic cell death, and expression of molecular markers of epithelial-mesenchymal transition (EMT) were determined by Western blot and real-time PCR...
January 30, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28124274/upregulation-of-the-esr1-gene-and-esr-ratio-esr1-esr2-is-associated-with-a-worse-prognosis-in-papillary-thyroid-carcinoma-the-impact-of-the-estrogen-receptor-%C3%AE-%C3%AE-expression-on-clinical-outcomes-in-papillary-thyroid-carcinoma-patients
#7
Jin Wook Yi, Su-Jin Kim, Jong Kyu Kim, Chan Yong Seong, Hyeong Won Yu, Young Jun Chai, June Young Choi, Kyu Eun Lee
BACKGROUND: A gender disparity exists with respect to the incidence of papillary thyroid cancer (PTC), suggesting that sex hormones such as estrogen play a role in PTC development and progression. In this study, we compared estrogen receptor gene expression patterns in PTCs to determine the clinical significance of estrogen gene expression in PTC. METHODS: We analyzed ESR1 and ESR2 messenger RNA expression counts using data from The Cancer Genome Atlas (TCGA). To validate the results of TCGA analysis, we analyzed microarray data (GSE 54958) from the Gene Expression Omnibus...
January 25, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28112041/braf-k601e-mutation-in-a-follicular-thyroid-adenoma
#8
Elisabetta Macerola, Liborio Torregrossa, Clara Ugolini, Sohail Bakkar, Paolo Vitti, Guido Fadda, Fulvio Basolo
BRAF mutations represent the most common genetic alteration in papillary thyroid carcinoma (PTC). The p.V600E mutation is specific for the classic and tall-cell variants of PTC and has been associated with a more aggressive biologic behavior. On the other hand, the p.K601E mutation is peculiar to the follicular variant of PTC, and seems to be a favorable prognostic indicator. A 12-year-old boy presented with a 10-mm left-sided thyroid nodule. Fine-needle aspiration cytology reported the lesion as suspicious for a follicular neoplasm (Bethesda category IV)...
January 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28108303/braf-v600e-mutation-is-not-always-present-as-expected-a-case-report-of-lung-and-thyroid-carcinomas
#9
Nicolas Piton, Mathieu Salaün, Florian Guisier, Florent Marguet, Emmanuel K Touré, Pierre Gémival, Luc Thiberville, Jean-Christophe Sabourin
No abstract text is available yet for this article.
January 17, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28105231/pigment-epithelium-derived-factor-has-a-role-in-the-progression-of-papillary-thyroid-carcinoma-by-affecting-the-hif1%C3%AE-vegf-signaling-pathway
#10
Yichen Lv, Yu Sun, Tiefeng Shi, Chenlei Shi, Huadong Qin, Zhaozhu Li
The progression mechanism of papillary thyroid carcinoma (PTC) remains largely unknown. Accumulating evidence has suggested that various targets of pigment epithelium-derived factor (PEDF) are able to inhibit cancer progression. The aim of the present study was to examine PEDF expression in PTC patients and to investigate its relationship with aggressive clinicopathological features, as well as to explore whether PEDF affects the progression of PTC via the hypoxia-inducible factor 1α (HIF1α)-vascular endothelial growth factor (VEGF) pathway...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28093480/comprehensive-screening-for-pd-l1-expression-in-thyroid-cancer
#11
Soomin Ahn, Tae Hyuk Kim, Sun Wook Kim, Chang Seok Ki, Hye Won Jang, Jee Soo Kim, Jung Han Kim, Jun-Ho Choe, Jung Hee Shin, Soo Yeon Hahn, Young Lyun Oh, Jae Hoon Chung
PD-L1 expression is being considered a potential biomarker for response of anti-PD-1 or anti-PD-L1 agents in various tumors. The reported frequency of PD-L1 positivity varies in thyroid carcinomas, and multiple factors may contribute to the variability in PD-L1 positivity. We evaluated the PD-L1 expression in various thyroid cancers on a large scale. A total of 407 primary thyroid cancers with a median 13.7-year of follow-up were included. We evaluated the frequency of PD-L1 expression using a rabbit monoclonal antibody (clone SP142)...
February 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28090518/clinical-characteristics-and-molecular-pathology-of-skull-ectopic-thyroid-cancer
#12
Longxing Cao, Zhongyong Wang, Jiawei Ma, Jinsheng Chen, Haojiang Zhu, Xiaohua Zhou, Qing Zhu, Jun Dong, Qing Lan, Qiang Huang
Thyroid cancer is very common, but skull ectopic thyroid cancer has not been reported in 50 years of literatures in foreign countries. There are only four cases of the skull ectopic thyroid cancer reported in more than 30 years of domestic literature including the cases in this report. This paper aims to investigate the clinical characteristics and possible molecular mechanisms of this rare disease. Five keywords of "thyroid gland", "ectopic thyroid", "thyroid cancer", "ectopic thyroid cancer" and "metastatic thyroid cancer" were included and 50 years of literatures in the PubMed-MEDLINE and Wanfang database were reviewed...
December 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28089820/deregulated-expression-of-vhl-mrna-variants-in-papillary-thyroid-cancer
#13
Enke Baldini, Chiara Tuccilli, Yannick Arlot-Bonnemains, Frank Chesnel, Salvatore Sorrenti, Corrado De Vito, Antonio Catania, Eleonora D'Armiento, Alessandro Antonelli, Poupak Fallahi, Sara Watutantrige-Fernando, Francesco Tartaglia, Susi Barollo, Caterina Mian, Marco Bononi, Stefano Arceri, Domenico Mascagni, Massimo Vergine, Daniele Pironi, Massimo Monti, Angelo Filippini, Salvatore Ulisse
Recent findings demonstrated that a subset of papillary thyroid cancers (PTCs) is characterized by reduced expression of the von Hippel-Lindau (VHL) tumor suppressor gene, and that lowest levels associated with more aggressive PTCs. In the present study, the levels of the two VHL mRNA splicing variants, VHL-213 (V1) and VHL-172 (V2), were measured in a series of 96 PTC and corresponding normal matched tissues by means of quantitative RT-PCR. Variations in the mRNA levels were correlated with patients' clinicopathological parameters and disease-free interval (DFI)...
January 12, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28077340/clinicopathological-characteristics-of-papillary-thyroid-cancer-in-children-with-emphasis-on-the-pubertal-status-and-association-with-brafv600e-mutation
#14
Şükran Poyrazoğlu, Rüveyde Bundak, Firdevs Baş, Gülçin Yeğen, Yasemin Şanlı, Feyza Darendeliler
OBJECTIVE: Papillary thyroid cancer (PTC) could behave differently in prepubertal than in pubertal children and between children and adults. BRAF gene activating mutations may associate with PTC by creating aberrant activation. We aimed to evaluate clinicopathological characteristics of PTC patients with emphasis on the pubertal status and investigate the association of BRAFV600E mutation with disease characteristics. METHODS: Medical records of 75 patients with PTC were reviewed retrospectively...
January 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28071986/evaluation-of-a-two-year-routine-application-of-molecular-testing-of-thyroid-fine-needle-aspirations-using-a-seven-gene-panel-in-a-primary-referral-setting-in-germany
#15
Markus Eszlinger, Katharina Böhme, Maha Ullmann, Fabian Görke, Udo Siebolts, Anna Neumann, Christiane Franzius, Sabine Adam, Thomas Molwitz, Christian Landvogt, Bassam Amro, Anja Hach, Berit Feldmann, Dieter Graf, Antje Wefer, Rainer Niemann, Catharina Bullmann, Günther Klaushenke, Reinhard Santen, Gregor Tönshoff, Velimir Ivancevic, Andreas Kögler, Erhard Bell, Bernd Lorenz, Gerald Kluge, Christoph Hartenstein, Ilka Ruschenburg, Ralf Paschke
BACKGROUND: Major differences with respect to the diagnostic performance of a "ruling in" approach in the presurgical diagnosis of indeterminate thyroid fine-needle aspirations (FNAs) have been reported. Therefore, the aim of this prospective multicenter study was to investigate the specific diagnostic impact of mutation testing using a seven-gene panel in a routine primary referral setting analyzing FNAs from endocrinology and nuclear medicine practices in Germany. METHODS: RNA and DNA was extracted from 564 routine air-dried FNA smears obtained from 64 physicians and cytologically graded by one experienced cytopathologist...
February 7, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28062544/somatic-mutation-profiling-of-hobnail-variant-of-papillary-thyroid-carcinoma
#16
Luca Morandi, Alberto Righi, Francesca Maletta, Paola Rucci, Fabio Pagni, Marco Gallo, Sabrina Rossi, Leonardo Caporali, Anna Sapino, Ricardo V Lloyd, Sofia Asioli
Hobnail variant of papillary thyroid carcinoma (HPTC) represents a recently described, aggressive and rare group of thyroid tumors with poorly understood pathogenesis. Molecular data about this group of cancers are few, and a more detailed molecular characterization of these tumors is needed. The main objective of the study is to define a comprehensive molecular typing of HPTC. Eighteen patients affected by HPTC, including eighteen primary tumors and four lymph node metastases, were screened for NRAS, KRAS, HRAS, BRAF, TP53, PIK3CA, hTERT, PTEN, CDKN2A, EGFR, AKT1, CTNNB1 and NOTCH1 gene mutations...
February 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28052655/genetic-alterations-and-their-clinical-implications-in-high-recurrence-risk-papillary-thyroid-cancer
#17
Min-Young Lee, Bo Mi Ku, Hae Su Kim, Ji Yun Lee, Sung Hee Lim, Jong-Mu Sun, Se-Hoon Lee, Keunchil Park, Young Lyun Oh, Mineui Hong, Han-Sin Jeong, Young-Ik Son, Chung-Hwan Baek, Myung-Ju Ahn
Purpose: Papillary thyroid carcinomas (PTCs) frequently involve genetic alterations. The objective of this study was to investigate genetic alterations and further explore the relationships between these genetic alterations and clinicopathological characteristics in a high-recurrence risk (node positive, N1) PTC group. Materials and Methods: Tumor tissue blocks were obtained from 240 surgically resected patients with histologically confirmed stage III/IV (pT3/4 or N1) PTCs...
December 26, 2016: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/28049366/primary-thyroid-carcinoma-with-low-risk-histology-and-distant-metastases-clinicopathologic-and-molecular-characteristics
#18
Bin Xu, R Michael Tuttle, Mona M Sabra, Ian Ganly, Ronald Ghossein
BACKGROUND: Distant metastases (DM) are a rare occurrence in well-differentiated thyroid carcinoma. The aim of this study was to analyze the clinical, pathologic, and molecular features of primary thyroid carcinoma with low-risk histology that develop DM. METHODS: A detailed clinicopathologic review and targeted next-generation sequencing were performed on a cohort of well-differentiated thyroid carcinoma lacking gross extrathyroidal extension, extensive vascular invasion, or significant lymph node metastases but exhibiting DM...
February 1, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28042533/a-brief-review-on-the-molecular-basis-of-medullary-tyroid-carcinoma
#19
REVIEW
Masoumeh Mohammadi, Mehdi Hedayati
Approximately 5-10% of all thyroid cancers are medullary thyroid carcinomas (MTC). MTC is mainly sporadic in nature, but 20-30% of cases are hereditary. Genetic testing for hereditary MTC is very important for the patient and his family, but the patients must be receiving appropriate genetic counseling. About 98% of patients with hereditary MTC have germline mutations in exons 10, 11, 13, 14, 15, 16 and intron 16 of the REarrangement during transfection (RET) proto-oncogene, but the etiology of the more frequent sporadic form of MTC (sMTC) is not well understood...
2017: Cell Journal
https://www.readbyqxmd.com/read/28031237/expression-profiling-of-a-human-thyroid-cell-line-stably-expressing-the-brafv600e-mutation
#20
Byoung-Ae Kim, Hyeon-Gun Jee, Jin Wook Yi, Su-Jin Kim, Young Jun Chai, June Young Choi, Kyu Eun Lee
BACKGROUND/AIM: The BRAF(V600E) mutation acts as an initiator of cancer development in papillary thyroid carcinoma (PTC). Gene expression changes caused by the BRAF(V600E) mutation may have an important role in thyroid cancer development. MATERIALS AND METHODS: To study genomic alterations caused by the BRAF(V600E) mutation, we made human thyroid cell lines that harbor the wild-type BRAF gene (Nthy/WT) and the V600E mutant-type BRAF gene (Nthy/V600E). RESULTS: Flow cytometry and western blotting showed stable transfection of the BRAF gene...
2, 2017: Cancer Genomics & Proteomics
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