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thyroid FNA RAS

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https://www.readbyqxmd.com/read/29721199/rapid-methods-to-create-a-positive-control-and-identify-the-pax8-ppar%C3%AE-rearrangement-in-fna-thyroid-samples-by-molecular-biology
#1
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
https://www.readbyqxmd.com/read/29704233/the-mutational-analysis-in-the-diagnostic-work-up-of-thyroid-nodules-the-real-impact-in-a-center-with-large-experience-in-thyroid-cytopathology
#2
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
https://www.readbyqxmd.com/read/29469940/different-qualifiers-of-aus-flus-thyroid-fna-have-distinct-braf-ras-ret-ptc-and-pax8-pparg-alterations
#3
Claudio Bellevicine, Roberta Sgariglia, Ilaria Migliatico, Elena Vigliar, Melania D'Anna, Maria Antonia Nacchio, Nicola Serra, Umberto Malapelle, Massimo Bongiovanni, Giancarlo Troncone
BACKGROUND: The Bethesda System for Reporting Thyroid Cytopathology category of atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) includes fine-needle aspiration (FNA) specimens that cannot straightforwardly be classified as benign or malignant. To determine whether morphological subcategorization based on atypia qualifiers and molecular testing could improve malignancy risk stratification of AUS/FLUS patients, this study assessed the correlation between these qualifiers and the molecular alterations commonly harbored by thyroid neoplasms...
February 22, 2018: Cancer Cytopathology
https://www.readbyqxmd.com/read/29396809/molecular-testing-of-nodules-with-a-suspicious-or-malignant-cytologic-diagnosis-in-the-setting-of-non-invasive-follicular-thyroid-neoplasm-with-papillary-like-nuclear-features-niftp
#4
Kyle C Strickland, Markus Eszlinger, Ralf Paschke, Trevor E Angell, Erik K Alexander, Ellen Marqusee, Matthew A Nehs, Vickie Y Jo, Alarice Lowe, Marina Vivero, Monica Hollowell, Xiaohua Qian, Tad Wieczorek, Christopher A French, Lisa A Teot, Edmund S Cibas, Neal I Lindeman, Jeffrey F Krane, Justine A Barletta
Non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) is an indolent thyroid tumor characterized by frequent RAS mutations and an absence of the BRAF V600E mutation commonly seen in classical papillary thyroid carcinoma (cPTC). The ability to differentiate potential NIFTP/follicular variant of papillary thyroid carcinoma (FVPTC) from cPTC at the time of fine-needle aspiration (FNA) can facilitate conservative management of NIFTP. The aim of the current study was to investigate how molecular testing may add to cytologic assessment in the pre-operative differentiation of potential NIFTP/FVPTC and cPTC...
March 2018: Endocrine Pathology
https://www.readbyqxmd.com/read/29364576/simultaneous-detection-of-single-nucleotide-variant-deletion-insertion-and-fusion-in-lung-and-thyroid-carcinoma-using-cytology-specimen-and-an-rna-based-next-generation-sequencing-assay
#5
Natalya V Guseva, Omar Jaber, Aaron A Stence, Krishnaveni Sompallae, Amani Bashir, Ramakrishna Sompallae, Aaron D Bossler, Chris S Jensen, Deqin Ma
BACKGROUND: Molecular testing for epidermal growth factor receptor (EGFR) mutation and anaplastic lymphoma kinase (ALK) and ROS proto-oncogene 1, receptor tyrosine kinase (ROS1) fusion is routinely performed in patients with stage IV lung adenocarcinoma to assess their eligibility for targeted therapy. Fine-needle aspiration (FNA)-derived material frequently is the only pathologic material available. The identification of genomic aberrations in thyroid nodules from FNA smears may help stratify cancer risk and spare patients from a second surgery...
March 2018: Cancer Cytopathology
https://www.readbyqxmd.com/read/29345728/analytical-performance-of-the-thyroseq-v3-genomic-classifier-for-cancer-diagnosis-in-thyroid-nodules
#6
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
https://www.readbyqxmd.com/read/29165888/molecular-pathology-and-thyroid-fna
#7
REVIEW
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
https://www.readbyqxmd.com/read/29094776/molecular-testing-of-braf-ras-and-tert-on-thyroid-fnas-with-indeterminate-cytology-improves-diagnostic-accuracy
#8
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
https://www.readbyqxmd.com/read/28679352/identification-of-two-distinct-molecular-subtypes-of-non-invasive-follicular-neoplasm-with-papillary-like-nuclear-features-by-digital-rna-counting
#9
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
https://www.readbyqxmd.com/read/28609009/triage-of-the-indeterminate-thyroid-aspirate-what-are-the-options-for-the-practicing-cytopathologist
#10
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 Cytopathology
https://www.readbyqxmd.com/read/28537891/multiplex-pcr-approach-to-simultaneously-identify-several-mutations-in-fine-needle-cytology-thyroid-samples
#11
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
https://www.readbyqxmd.com/read/28417935/diagnostic-limitation-of-fine-needle-aspiration-fna-on-indeterminate-thyroid-nodules-can-be-partially-overcome-by-preoperative-molecular-analysis-assessment-of-ret-ptc1-rearrangement-in-braf-and-ras-wild-type-routine-air-dried-fna-specimens
#12
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
https://www.readbyqxmd.com/read/28114855/noninvasive-follicular-thyroid-neoplasm-with-papillary-like-nuclear-features-accounts-for-more-than-half-of-carcinomas-harboring-ras-mutations
#13
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
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
#14
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
https://www.readbyqxmd.com/read/26911375/prevalence-and-phenotypic-correlations-of-eif1ax-mutations-in-thyroid-nodules
#15
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
https://www.readbyqxmd.com/read/26870147/the-report-of-kras-mutation-and-nras-wild-type-in-a-patient-with-thyroid-metastasis-from-colon-cancer-a-rare-case-report
#16
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
https://www.readbyqxmd.com/read/26818556/the-diagnostic-application-of-rna-sequencing-in-patients-with-thyroid-cancer-an-analysis-of-851-variants-and-133-fusions-in-524-genes
#17
MULTICENTER STUDY
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
https://www.readbyqxmd.com/read/26604858/simultaneously-detection-of-50-mutations-at-20-sites-in-the-braf-and-ras-genes-by-multiplexed-single-nucleotide-primer-extension-assay-using-fine-needle-aspirates-of-thyroid-nodules
#18
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
https://www.readbyqxmd.com/read/26166089/ras-mutations-in-aus-flus-cytology-does-it-have-an-additional-role-in-brafv600e-mutation-negative-nodules
#19
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)
https://www.readbyqxmd.com/read/25926393/molecular-analysis-of-residual-thinprep-material-from-thyroid-fnas-increases-diagnostic-sensitivity
#20
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
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