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thyroid FNA RAS

Marina N Nikiforova, Stephanie Mercurio, Abigail I Wald, Michelle Barbi de Moura, Keith Callenberg, Lucas Santana-Santos, William E Gooding, Linwah Yip, Robert L Ferris, Yuri E Nikiforov
BACKGROUND: Molecular tests have clinical utility for thyroid nodules with indeterminate fine-needle aspiration (FNA) cytology, although their performance requires further improvement. This study evaluated the analytical performance of the newly created ThyroSeq v3 test. METHODS: ThyroSeq v3 is a DNA- and RNA-based next-generation sequencing assay that analyzes 112 genes for a variety of genetic alterations, including point mutations, insertions/deletions, gene fusions, copy number alterations, and abnormal gene expression, and it uses a genomic classifier (GC) to separate malignant lesions from benign lesions...
January 18, 2018: Cancer
D N Poller, S Glaysher
This review summarises molecular pathological techniques applicable to thyroid FNA. The molecular pathology of thyroid tumours is now fairly well understood. Molecular methods may be used as a rule-in test for diagnosis of malignancy in thyroid nodules, eg BRAF V600E point mutation, use of a seven-gene mutational panel (BRAF V600E, RAS genes, RET/PTC or PAX8/PPARG rearrangement), or as a comprehensive multigene next-generation sequencing panel, eg ThyroSeq v2. Molecular methods can also be applied as rule-out tests for malignancy in thyroid nodules, eg Afirma or ThyroSeq v2 or as markers of prognosis, eg TERT promoter mutation or other gene mutations including BRAF V600E, TP53 and AKT1, and as tests for newly defined tumour entities such as non-invasive follicular thyroid neoplasm with papillary like nuclei, or as a molecular marker(s) for targeted therapies...
December 2017: Cytopathology: Official Journal of the British Society for Clinical Cytology
M Decaussin-Petrucci, F Descotes, L Depaepe, V Lapras, M-L Denier, F Borson-Chazot, J-C Lifante, J Lopez
OBJECTIVE: Liquid-based (LB)-FNA is widely recognized as a reliable diagnostic method to evaluate thyroid nodules. However, up to 30% of LB-FNA remain indeterminate according to the Bethesda system. Use of molecular biomarkers has been recommended to improve its pathological accuracy but implementation of these tests in clinical practice may be difficult. Here, we evaluated feasibility and performance of molecular profiling in routine practice by testing LB-FNA for BRAF, N/HRAS and TERT mutations...
November 2, 2017: Cytopathology: Official Journal of the British Society for Clinical Cytology
Riccardo Giannini, Clara Ugolini, Anello Marcello Poma, Maria Urpì, Cristina Niccoli, Rossella Elisei, Massimo Chiarugi, Paolo Vitti, Paolo Miccoli, Fulvio Basolo
BACKGROUND: The follicular variant (FV) of papillary thyroid cancer (PTC) is one of the most common variants of PTC. Clinically, non-infiltrative FVPTC is considered a low-risk variant of PTC, and the non-invasive encapsulated forms of FVPTC represent a group of thyroid tumors with a particularly good prognosis. Consequently, these neoplasms have been very recently reclassified as non-invasive follicular neoplasms with papillary-like nuclear features (NIFTP). From a molecular standpoint, NIFTP appears to be similar to follicular neoplasms...
October 2017: Thyroid: Official Journal of the American Thyroid Association
Ayse M Onenerk, Marc P Pusztaszeri, Sule Canberk, William C Faquin
Fine-needle aspiration (FNA) plays a key role in the early evaluation of patients with thyroid nodules; however, from 15% to 30% of FNA specimens are cytologically indeterminate. Molecular testing has proven useful when applied to indeterminate thyroid FNAs, and its use has been endorsed in the American Thyroid Association guidelines. In addition to the noncommercial ("in-house") application of v-Raf murine sarcoma viral oncogene homolog B1 (BRAF), rat sarcoma (RAS), rearranged in transformation/papillary thyroid carcinoma (RET/PTC), and peroxisome proliferator-activated receptor γ/paired box gene 8 (PPARγ/PAX8) testing, there are currently 3 commercially available molecular panels that vary in their relative reported performances, strengths, and limitations...
June 2017: Cancer
Emilia Vuttariello, Marco Borra, Elvira Mauriello, Celeste Calise, Barbara D'Andrea, Anna Capiluongo, Franco Fulciniti, Anna Cipolletta, Mario Monaco, Luciano Pezzullo, Gennaro Chiappetta
The most frequent initial manifestation of thyroid cancer is the appearance of a nodule. More than 20% of the general population has a palpable thyroid nodule and the percentage rises to 70% based on ultrasound identification. In 95% of cases the nodule is simply a hyperplastic or benign lesion. The most reliable diagnostic test for thyroid nodules is fine needle aspiration (FNA), but cytological discrimination between malignant and benign follicular neoplasms remains difficult. Cytological analysis is now, almost routinely, being combined with molecular genetics to enable the pathologist to make a more objective diagnosis...
July 25, 2017: Oncotarget
Young Sin Ko, Tae Sook Hwang, Ja Yeon Kim, Yoon-La Choi, Seung Eun Lee, Hye Seung Han, Wan Seop Kim, Suk Kyeong Kim, Kyoung Sik Park
Molecular markers are helpful diagnostic tools, particularly for cytologically indeterminate thyroid nodules. Preoperative RET/PTC1 rearrangement analysis in BRAF and RAS wild-type indeterminate thyroid nodules would permit the formulation of an unambiguous surgical plan. Cycle threshold values according to the cell count for detection of the RET/PTC1 rearrangement by real-time reverse transcription-polymerase chain reaction (RT-PCR) using fresh and routine air-dried TPC1 cells were evaluated. The correlation of RET/PTC1 rearrangement between fine-needle aspiration (FNA) and paired formalin-fixed paraffin-embedded (FFPE) specimens was analyzed...
April 12, 2017: International Journal of Molecular Sciences
Vera A Paulson, Priyanka Shivdasani, Trevor E Angell, Edmund S Cibas, Jeffrey F Krane, Neal I Lindeman, Erik K Alexander, Justine A Barletta
BACKGROUND: Molecular testing of thyroid nodules is increasingly being utilized to guide clinical management decisions. RAS mutations are the most frequent mutations detected in the context of an indeterminate fine-needle aspiration (FNA) diagnosis. The term "noninvasive follicular thyroid neoplasm with papillary-like nuclear features" (NIFTP) was recently introduced to promote conservative management of tumors previously classified as noninvasive follicular variant of papillary thyroid carcinoma (FVPTC)...
April 2017: Thyroid: Official Journal of the American Thyroid Association
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...
March 2017: Thyroid: Official Journal of the American Thyroid Association
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
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