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thyroid FNA RAS

Arivarasan Karunamurthy, Federica Panebianco, Susan J Hsiao, Jennie Vorhauer, Marina N Nikiforova, Simion Chiosea, Yuri E Nikiforov
The EIF1AX gene mutations have been recently found in papillary thyroid carcinoma (PTC) and anaplastic thyroid carcinoma (ATC). The prevalence of these mutations in other types of thyroid cancers and benign nodules is unknown. In this study, we analyzed the occurrence of EIF1AX mutations in exons 2, 5, and 6 of the gene in a series of 266 thyroid tumors and hyperplastic nodules by either Sanger or next-generation sequencing (ThyroSeq v.2). In addition, 647 thyroid fine-needle aspiration (FNA) samples with indeterminate cytology were analyzed...
April 2016: Endocrine-related Cancer
Mehrdad Payandeh, Masoud Sadeghi, Edris Sadeghi
Colorectal cancer (CRC) metastasis to the thyroid gland is rare. Here we report a 45 yr-old man in western Iran referred to Hematology Clinic, Kermanshah City, Iran in March 2014 with complaint of exertional dyspnea, multi-nodular goiter as well as complaint of exertional dyspnea, and multi-nodular goiter. His history included a low anterior resection of rectum in 9 months ago for a high-risk stage II rectal adenocarcinoma. He did not show clinical signs of hyperthyroidism other than thyroid enlargement...
2016: Iranian Journal of Pathology
Moraima Pagan, Richard T Kloos, Chu-Fang Lin, Kevin J Travers, Hajime Matsuzaki, Ed Y Tom, Su Yeon Kim, Mei G Wong, Andrew C Stewart, Jing Huang, P Sean Walsh, Robert J Monroe, Giulia C Kennedy
BACKGROUND: Thyroid carcinomas are known to harbor oncogenic driver mutations and advances in sequencing technology now allow the detection of these in fine needle aspiration biopsies (FNA). Recent work by The Cancer Genome Atlas (TCGA) Research Network has expanded the number of genetic alterations detected in papillary thyroid carcinomas (PTC). We sought to investigate the prevalence of these and other genetic alterations in diverse subtypes of thyroid nodules beyond PTC, including a variety of samples with benign histopathology...
2016: BMC Bioinformatics
Aaron A Stence, Michael P Gailey, Robert A Robinson, Chris S Jensen, Deqin Ma
Fine-needle aspiration (FNA) is commonly used for primary evaluation of thyroid nodules. Twenty to 30 percent of thyroid nodules remain indeterminate after FNA evaluation. Studies show the BRAF p.V600E to be highly specific for papillary thyroid carcinoma (PTC), while RAS mutations carry up to 88 percent positive predictive value for malignancy. We developed a two-tube multiplexed PCR assay followed by single-nucleotide primer extension assay for simultaneous detection of 50 mutations in the BRAF (p.V600E, p...
December 2015: Yale Journal of Biology and Medicine
Jung Hyun Yoon, Hyeong Ju Kwon, Hye Sun Lee, Eun-Kyung Kim, Hee Jung Moon, Jin Young Kwak
The object of this study is to evaluate the additional role of RAS mutation in detecting thyroid malignancy among BRAF mutation-negative nodules diagnosed as atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) on cytology.From December 2009 to December 2011, 202 BRAF mutation-negative thyroid nodules diagnosed as AUS/FLUS cytology in 201 patients were included in this study. RAS mutation analysis was performed using residual material from ultrasonography-guided fine needle aspiration (US-FNA) cytology testing for K-RAS, N-RAS, and H-RAS codons 12/13 and 61 point mutations...
July 2015: Medicine (Baltimore)
Jeffrey F Krane, Edmund S Cibas, Erik K Alexander, Ralf Paschke, Markus Eszlinger
BACKGROUND: Molecular testing for genetic alterations associated with malignancy is a potential triage approach for thyroid fine-needle aspiration (FNA) samples with indeterminate cytology. Because liquid-based FNA material allows for efficient RNA extraction, the authors analyzed residual material for common point mutations and rearrangements. METHODS: Thyroid FNAs were classified according to The Bethesda System for Reporting Thyroid Cytopathology after routine ThinPrep slide preparation...
June 2015: Cancer Cytopathology
Claudio Bellevicine, Elena Vigliar, Umberto Malapelle, Emanuele Carelli, Alfonso Fiorelli, Giovanni Vicidomini, Salvatore Cappabianca, Mario Santini, Giancarlo Troncone
Lung adenocarcinoma and papillary thyroid carcinoma (PTC) share a number of microscopic and immunophenotypical features. Thus, patients presenting with thyroid and lung synchronous neoplasms may be difficult on fine-needle aspiration (FNA) samples to define the site of origin of the malignancy. In the case reported here, inherent to a 57-years-old man presenting with a right lung mass and a large (44 mm) thyroid nodule, an integrated cytological, immunocytochemical and molecular approach enabled to clarify the primary nature of the neoplasm...
July 2015: Diagnostic Cytopathology
Parisha Bhatia, Ahmed Deniwar, Paul Friedlander, Rizwan Aslam, Emad Kandil
Fine needle aspiration (FNA) cytology, being the mainstay to diagnose thyroid nodules, does not provide definitive results in a subset of patients. The use of molecular markers testing has been described as a useful aid in differentiation of thyroid nodules that present with an indeterminate cytodiagnosis. Molecular tests, such as the Afirma gene classifier, mutational assay and immunohistochemical markers have been increasingly used to further increase the accuracy and defer unnecessary surgeries for benign thyroid nodules...
March 2015: Anticancer Research
Tae Sook Hwang, Wook Youn Kim, Hye Seung Han, So Dug Lim, Wan-Seop Kim, Young Bum Yoo, Kyoung Sik Park, Seo Young Oh, Suk Kyeong Kim, Jung Hyun Yang
Follicular variant of papillary thyroid carcinoma (FVPTC), particularly the encapsulated subtype, often causes a diagnostic dilemma. We reconfirmed the molecular profiles in a large number of FVPTCs and investigated the efficacy of the preoperative mutational analysis in indeterminate thyroid nodules. BRAF V600E/K601E and RAS mutational analysis was performed on 187 FVPTCs. Of these, 132 (70.6%) had a point mutation in one of the BRAF V600E (n=57), BRAF K601E (n=11), or RAS (n=64) genes. All mutations were mutually exclusive...
2015: BioMed Research International
Markus Eszlinger, Simonetta Piana, Anja Moll, Eileen Bösenberg, Alessandra Bisagni, Alessia Ciarrocchi, Moira Ragazzi, Ralf Paschke
BACKGROUND: Previous studies detecting mutations in thyroid nodule fine-needle aspiration (FNA) material differed with respect to the cytologic grading applied to the FNAs, the type of FNA material used, and the prevalence of mutations observed in the samples. Therefore, the aim of the present study was to investigate these differences as possible reasons for the discrepant sensitivities and specificities reported for the "ruling-in" approach between the previous studies. METHODS: RNA and DNA was extracted from 347 routine air-dried FNA smears with available histology...
April 2015: Thyroid: Official Journal of the American Thyroid Association
Melissa A Buryk, Jeffrey P Simons, Jennifer Picarsic, Sara E Monaco, John A Ozolek, Judith Joyce, Nursen Gurtunca, Yuri E Nikiforov, Selma Feldman Witchel
BACKGROUND: Thyroid nodules are less common in children than adults, but the risk of malignancy in thyroid nodules is much higher in children. The ability to characterize pediatric thyroid nodules has improved with the use of ultrasound-guided fine-needle aspiration, the Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) classification system, and expanded molecular testing. Nevertheless, stratification criteria to predict thyroid malignancy in children are poorly defined. Our objective was to determine if clinical presentation and molecular genetics could predict malignancy in pediatric thyroid nodules...
April 2015: Thyroid: Official Journal of the American Thyroid Association
M Bongiovanni, F Molinari, M Eszlinger, R Paschke, J Barizzi, E Merlo, L Giovanella, F Fasolini, F Cattaneo, F Ramelli, L Mazzucchelli, M Frattini
OBJECTIVES: The application of molecular tests to thyroid fine needle aspiration (FNA) has been shown to be a valuable tool to better refine the pre-operative malignant risk of patients with indeterminate cytology results. In this study, we investigated the feasibility of using the laser capture microdissection (LCM) technique to obtain DNA and RNA for molecular tests in routine thyroid FNA smears. METHODS: Nine coupled FNA and histological retrospective cases and 31 prospective FNA cases with a follicular neoplasm/suspicious for a follicular neoplasm (FN/SFN) diagnosis were included in this study...
October 2015: Cytopathology: Official Journal of the British Society for Clinical Cytology
Yuri E Nikiforov, Sally E Carty, Simon I Chiosea, Christopher Coyne, Umamaheswar Duvvuri, Robert L Ferris, William E Gooding, Steven P Hodak, Shane O LeBeau, N Paul Ohori, Raja R Seethala, Mitchell E Tublin, Linwah Yip, Marina N Nikiforova
BACKGROUND: Fine-needle aspiration (FNA) cytology is a common approach to evaluating thyroid nodules, although 20% to 30% of FNAs have indeterminate cytology, which hampers the appropriate management of these patients. Follicular (or oncocytic) neoplasm/suspicious for a follicular (or oncocytic) neoplasm (FN/SFN) is a common indeterminate diagnosis with a cancer risk of approximately 15% to 30%. In this study, the authors tested whether the most complete next-generation sequencing (NGS) panel of genetic markers could significantly improve cancer diagnosis in these nodules...
December 1, 2014: Cancer
Poupak Fallahi, Riccardo Giannini, Paolo Miccoli, Alessandro Antonelli, Fulvio Basolo
"The incidence of thyroid cancer, the most common endocrine malignancy, is rising. The two most common types of thyroid cancer are papillary and follicular" thyroid carcinomas. "Fine-needle aspiration (FNA) of thyroid nodules" can permit to detect many genetic mutations and other molecular alterations, including RAS and BRAF point mutations, PAX8/peroxisome proliferator-activated receptor (PPAR)γ and "RET/PTC rearrangements, occurring in thyroid papillary and follicular carcinomas" (more than 70% of cases), which can be used successfully to improve the diagnosis "and the management of patients with thyroid nodules"...
June 2014: Current Genomics
Agnese Proietti, Nicla Borrelli, Riccardo Giannini, Rossana Romani, Giancarlo Di Coscio, Francesca Quilici, Teresa Rago, Paolo Miccoli, Paolo Vitti, Fulvio Basolo
BACKGROUND: Fine-needle aspiration (FNA) has been widely accepted as the most crucial step in the preoperative assessment of thyroid nodules, but the false-negative rates are generally reported to be between 3.6% and 10.2%. To lower the overall incidence of this false-negative testing, new reporting systems encourage the molecular testing of thyroid nodules. However, to the authors' knowledge, the role of molecular testing in false-negative FNA has not yet been evaluated. METHODS: In total, 1347 consecutive papillary thyroid carcinomas (PTCs) with both cytological and histological diagnoses were collected from the same center...
October 2014: Cancer Cytopathology
Anna Guerra, Mario Carrano, Elisabetta Angrisani, Alessandro Puzziello, Giulia Izzo, Vincenzo Di Crescenzo, Alessandro Vatrella, Mario Vitale
INTRODUCTION: Fine-needle aspiration cytology (FNAC) is the primary means to distinguish benign from malignant thyroid nodules. However, adjunctive diagnostic tests are needed as 20-40% of FNAC are inconclusive. RAS mutations have been described in differentiated thyroid cancer and they could be used as tumor markers. However, their prevalence varies widely among studies, probably as a result of the detection methods used. We investigated whether the pyrosequencing method can be applied to detect NRAS and KRAS mutations in thyroid aspirates...
2014: International Journal of Surgery
Victor Bernet, Kenneth H Hupart, Sareh Parangi, Kenneth A Woeber
• Approximately 10 to 25% of fine-needle aspiration (FNA) biopsies yield an indeterminate result often labeled as atypia of undetermined significance or follicular lesion of undetermined significance (AUS/FLUS) or follicular neoplasm/suspicious for follicular neoplasm (FN/SFN). The risk of malignancy typically varies between 15 and 30% for these categories. • Although many markers are in development and have been studied in a research setting, 2 principal tests are currently marketed for use to improve the malignancy risk assessment of "indeterminate" thyroid nodules...
April 2014: Endocrine Practice
Rohtesh S Mehta, Sally E Carty, N Paul Ohori, Steven P Hodak, Christopher Coyne, Shane O LeBeau, Mitchell E Tublin, Michael T Stang, Jonas T Johnson, Kelly L McCoy, Marina N Nikiforova, Yuri E Nikiforov, Linwah Yip
BACKGROUND: In thyroid nodule fine-needle aspiration (FNA) cytology, the atypia of undetermined significance or follicular lesion of undetermined significance (AUS/FLUS) category has a 5-15% malignancy risk that increases to 85-99% when mutation testing for BRAF, RAS, RET/PTC, or PAX8/PPARγ is positive. However, negative testing does not exclude malignancy. The study objective was to identify clinical and imaging features that predict cancer in mutation-negative AUS/FLUS thyroid nodules...
October 2013: Surgery
Melissa A Buryk, Sara E Monaco, Selma F Witchel, Deepak K Mehta, Nursen Gurtunca, Yuri E Nikiforov, Jeffrey P Simons
OBJECTIVES: To discuss the use of molecular mutation analysis in the surgical management of pediatric thyroid nodules. METHODS: This study is a case series with retrospective chart review performed at a tertiary children's hospital. Pediatric patients who presented to the Children's Hospital of Pittsburgh of UPMC with a thyroid nodule and had subsequent fine needle aspiration with positive molecular mutation between November 2009 and February 2012 were identified and charts were reviewed...
October 2013: International Journal of Pediatric Otorhinolaryngology
Markus Eszlinger, Annelise Krogdahl, Sina Münz, Christian Rehfeld, Eva Magrethe Precht Jensen, Carolina Ferraz, Eileen Bösenberg, Norbert Drieschner, Markus Scholz, Laszlo Hegedüs, Ralf Paschke
BACKGROUND: The diagnostic limitations of thyroid fine-needle aspiration (FNA), such as the indeterminate category, can be partially overcome by molecular analyses. However, until now, rearrangements have only been detected in fresh FNA material and the number of follicular thyroid carcinomas (FTCs) was rather low in previous studies. We aimed at investigating the impact of point mutations and rearrangement detection in a set of routine air-dried FNA smears with a higher percentage of FTCs...
February 2014: Thyroid: Official Journal of the American Thyroid Association
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