keyword
https://read.qxmd.com/read/38520219/comprehensive-evaluation-of-cytomorphologic-histologic-and-molecular-features-of-dicer1-altered-thyroid-lesions-on-fna-a-multipractice-experience
#1
JOURNAL ARTICLE
Krisztina Lengyel, Daniel J Lubin, Wen-Yu Hsiao, Sam Sirotnikov, Guangju Luo, James W Roberts, Qiuying Shi, Kelly Magliocca, Melinda M Lewis, Donald L Sears, Ghulam Ilyas, Beverly B Rogers, Kartik Viswanathan
BACKGROUND: DICER1 mutations, though infrequent, are encountered on preoperative molecular testing of indeterminate adult and pediatric thyroid fine-needle aspiration (FNA) specimens. Yet, published cytomorphologic features of DICER1-altered thyroid lesions are limited. Cytomorphological features of DICER1-altered thyroid lesions were examined in a multipractice FNA cohort with clinical, radiological, and histologic data. METHODS: The cohort comprised 18 DICER1-altered thyroid FNAs, with 14 having slides available and eight having corresponding surgical resections...
March 23, 2024: Cancer Cytopathology
https://read.qxmd.com/read/38487090/diagnostic-utility-of-ras-mutation-testing-for-refining-cytologically-indeterminate-thyroid-nodules
#2
REVIEW
Isabel R Riccio, Alexandra C LaForteza, Mohammad H Hussein, Joshua P Linhuber, Peter P Issa, Jonathan Staav, Manal S Fawzy, Eman A Toraih, Emad Kandil
RAS mutations are prevalent in indeterminate thyroid nodules, but their association with malignancy risk and utility for diagnosis remains unclear. We performed a systematic review and meta-analysis to establish the clinical value of RAS mutation testing for cytologically indeterminate thyroid nodules. PubMed and Embase were systematically searched for relevant studies. Thirty studies comprising 13,328 nodules met the inclusion criteria. Random effects meta-analysis synthesized pooled estimates of RAS mutation rates, risk of malignancy with RAS positivity, and histologic subtype outcomes...
2024: EXCLI Journal
https://read.qxmd.com/read/38337794/comparative-cyto-histological-genetic-profile-in-a-series-of-differentiated-thyroid-carcinomas
#3
JOURNAL ARTICLE
Maria de Lurdes Matos, Mafalda Pinto, Marta Alves, Sule Canberk, Ana Gonçalves, Maria João Bugalho, Ana Luísa Papoila, Paula Soares
INTRODUCTION: Molecular tests can contribute to improve the preoperative diagnosis of thyroid nodules. Tests available are expensive and not adapted to different populations. AIM: This study aimed to compare the cyto-histological genetic profile and to evaluate the reliability of molecular tests using ultrasound-guided fine needle aspiration cytology (US-FNAC) in accurately diagnosing differentiated thyroid carcinomas (DTCs) and predicting biologic behavior of papillary thyroid carcinomas (PTCs)...
January 27, 2024: Diagnostics
https://read.qxmd.com/read/38319805/performance-of-a-multigene-genomic-classifier-and-clinical-parameters-in-predicting-malignancy-in-a-southeast-asian-cohort-of-patients-with-cytologically-indeterminate-thyroid-nodules
#4
JOURNAL ARTICLE
Samantha Peiling Yang, Min En Nga, Manish Mahadeorao Bundele, Simion I Chiosea, Sze Hwa Tan, Jeffrey H Y Lum, Rajeev Parameswaran, Ming Yann Lim, Hao Li, Wei Keat Cheah, Kathleen Su-Yen Sek, Andre Teck Huat Tan, Thomas Kwok Seng Loh, Kee Yuan Ngiam, Wee Boon Tan, Xinyong Huang, Thomas Wai Thong Ho, Keng Hua Lim, Chwee Ming Lim, Reyaz M Singaporewalla, Anil Dinkar Rao, Nandini C L Rao, Dennis Yu Kim Chua, David Chao-Wu Chin, Abigail I Wald, Virginia A LiVolsi, Yuri E Nikiforov, E Shyong Tai
BACKGROUND: Most thyroid nodules are benign. It is important to determine the likelihood of malignancy in such nodules to avoid unnecessary surgery. The primary objective of this study was to characterize the genetic landscape and the performance of a multigene genomic classifier in fine-needle aspiration (FNA) biopsies of cytologically indeterminate thyroid nodules in a Southeast Asian cohort. The secondary objective was to assess the predictive contribution of clinical characteristics to thyroid malignancy...
February 6, 2024: Cancer Cytopathology
https://read.qxmd.com/read/38277563/clinical-value-of-multi-gene-testing-in-distinguishing-benign-and-malignant-thyroid-nodules
#5
JOURNAL ARTICLE
Murui Zhang, Xiaotong Hu, Lunming Liu, Yihong Wang, Junchang Jiang, Hui Li, Weiqiang Fei, Tingting Zhong, Zhinong Jiang
BACKGROUND: The newly released 2022 WHO Classification of Neuroendocrine Neoplasms (version 5) and a recent update on thyroid tumor classifications have emphasized genetic testing to an unprecedented level. Fine needle aspiration (FNA) has been widely applied for the preoperative diagnosis of thyroid nodules. However, it is limited mainly to testing for a single gene-BRAFV600E, whereas multi-gene testing data are scarce, especially in the Asian population. This study aimed to explore the clinical value of multi-gene testing in the differential diagnosis of benign and malignant thyroid nodules based on the 2023 Bethesda System for Reporting Thyroid Cytopathology (BSRTC)...
January 26, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/37761374/indeterminate-thyroid-nodules-from-cytology-to-molecular-testing
#6
REVIEW
Paola Vignali, Elisabetta Macerola, Anello Marcello Poma, Rebecca Sparavelli, Fulvio Basolo
Thyroid cancer is the most common malignancy of the endocrine system. Fine-needle aspiration (FNA) biopsy of thyroid nodules has become the gold standard procedure, in terms of cost and efficacy, for guiding clinicians towards appropriate patients' management. One challenge for cytopathologists is to accurately classify cytological specimens as benign or malignant based on cytomorphological features. In fact, with a frequency ranging from 10% to 30%, nodules are diagnosed as indeterminate. In recent years, the mutational landscape of thyroid tumors has been extensively described, and two molecular profiles have been identified: RAS -like ( NRAS , HRAS, and KRAS mutations; EIF1AX mutations; BRAF K601E mutation; and PPARG and THADA fusions) and BRAF V600E -like (including BRAF V600E mutation and RET and BRAF fusions)...
September 20, 2023: Diagnostics
https://read.qxmd.com/read/37744220/performance-of-multigene-testing-in-cytologically-indeterminate-thyroid-nodules-and-molecular-risk-stratification
#7
JOURNAL ARTICLE
Yuanyuan Zhou, Xinping Wu, Yuzhi Zhang, Zhiqiang Li, Xia Ge, Hao Chen, Yuan Mao, Wenbo Ding
OBJECTIVE: Thyroid cancer is the third most prevalent cancer among females. Genetic testing based on next-generation sequencing may provide an auxiliary diagnosis to reduce cytologically diagnostic uncertainty. However, commercial multigene tests are not widely available and are not well-tested in the Chinese population. METHODS: In this study, we designed a multigene testing panel and evaluated its performance in 529 cytologically indeterminate thyroid nodules (Bethesda III, IV and V)...
2023: PeerJ
https://read.qxmd.com/read/37583345/the-histologic-outcomes-of-indeterminate-thyroid-nodules-with-rat-sarcoma-mutations-a-case-series
#8
JOURNAL ARTICLE
MacKenzie Jones, Dorbin G Abendano, Matthew Turner, Christopher Sullivan, Maria Cecilia D Reyes
Molecular testing is an adjunct test for thyroid fine needle aspirations with indeterminate diagnoses, with certain mutations showing a greater risk of malignancy (ROM). Rat sarcoma (RAS) point mutations are the most common alterations in indeterminate thyroid nodules. While they can have a high ROM, they are also found in benign disease. This study describes the histologic outcomes of indeterminate nodules with RAS mutations. Bethesda III and IV thyroid nodules with ThyroSeq results showing RAS mutations (NRAS, KRAS, and HRAS) were identified between November 1, 2018 and February 28, 2023...
August 16, 2023: Diagnostic Cytopathology
https://read.qxmd.com/read/37510219/update-on-molecular-diagnostics-in-thyroid-pathology-a-review
#9
REVIEW
Bayan Alzumaili, Peter M Sadow
Thyroid nodules are quite common, and the determination of a nodule of concern is complex, involving serum testing, radiology and, in some cases, pathological evaluation. For those nodules that raise clinical concern of neoplasia, fine needle aspiration biopsy is the gold standard for evaluation; however, in up to 30% of cases, results are indeterminate for malignancy, and further testing is needed. Advances in molecular testing have shown it to be of benefit for both diagnostic and prognostic purposes, and its use has become an integral part of thyroid cancer management in the United States and in several global nations...
June 22, 2023: Genes
https://read.qxmd.com/read/37358081/probability-of-malignancy-and-molecular-alterations-as-determined-by-thyroseq-v3-genomic-classifier-in-bethesda-category-iv
#10
JOURNAL ARTICLE
Youley Tjendra, Darcy A Kerr, Yiqin Zuo, Silvia Gra Menendez, Merce Jorda, Carmen Gomez-Fernandez, Jaylou M Velez Torres
BACKGROUND: ThyroSeq molecular testing assesses the probability of malignancy (POM) in thyroid fine-needle aspiration cytology (FNAC) with indeterminate cytology. The aim was to investigate whether Bethesda category IV (BIV) subcategories are associated with specific molecular alterations, molecular-derived risk of malignancy (MDROM), and risk of malignancy (ROM). METHODS: FNAC slides, associated ThyroSeq, version 3, Genomic Classifier results, and surgical follow-up were retrieved for BIV nodules...
June 26, 2023: Cancer Cytopathology
https://read.qxmd.com/read/37310413/molecular-testing-raises-thyroid-nodule-fine-needle-aspiration-diagnostic-value
#11
JOURNAL ARTICLE
Dongyan Han, Ding Min, Rongli Xie, Zhengshi Wang, Guohui Xiao, Xiaohong Wang, Lei Dong, Zhiqiang Yin, Jian Fei
Thyroid fine needle aspiration biopsy (FNAB) remains indeterminate in 16%-24% of the cases. Molecular testing could improve the diagnostic accuracy of FNAB. This study examined the gene mutation profile of patients with thyroid nodules and analyzed the diagnostic ability of molecular testing for thyroid nodules using a self-developed 18-gene test. Between January 2019 and August 2021, 513 samples (414 FNABs and 99 formalin-fixed paraffin-embedded (FFPE) specimens) underwent molecular testing at Ruijin Hospital...
June 1, 2023: Endocrine Connections
https://read.qxmd.com/read/37278105/lessons-learned-from-the-diversity-of-thyroid-nodule-practice
#12
JOURNAL ARTICLE
Kennichi Kakudo, Zhiyan Liu, Chan Kwon Jung, Chiung-Ru Lai
No abstract text is available yet for this article.
June 6, 2023: Cancer Cytopathology
https://read.qxmd.com/read/37071871/molecular-profiling-of-50-734-bethesda-iii-vi-thyroid-nodules-by-thyroseq-v3-implications-for-personalized-management
#13
JOURNAL ARTICLE
Simion Chiosea, Steven P Hodak, Linwah Yip, Devaprabu Abraham, Chelsey Baldwin, Zubair Baloch, Seza A Gulec, Zeina C Hannoush, Bryan R Haugen, Lija Joseph, Atil Y Kargi, Elham Khanafshar, Masha J Livhits, Bryan McIver, Kepal Patel, Snehal G Patel, Gregory W Randolph, Ashok R Shaha, Jyotirmay Sharma, Nikolaos Stathatos, Annemieke van Zante, Sally E Carty, Yuri E Nikiforov, Marina N Nikiforova
CONTEXT: Comprehensive genomic analysis of thyroid nodules for multiple classes of molecular alterations detected in a large series of fine needle aspiration (FNA) samples has not been reported. OBJECTIVE: To determine the prevalence of clinically relevant molecular alterations in Bethesda categories III-VI (BCIII-VI) thyroid nodules. METHODS: This retrospective analysis of FNA samples, tested by ThyroSeq v3 using Genomic Classifier and Cancer Risk Classifier at UPMC Molecular and Genomic Pathology laboratory, analyzed the prevalence of diagnostic, prognostic, and targetable genetic alterations in a total of 50 734 BCIII-VI nodules from 48 225 patients...
October 18, 2023: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/37040004/preoperative-risk-stratification-of-follicular-patterned-thyroid-lesions-on-core-needle-biopsy-by-histologic-subtyping-and-ras-variant-specific-immunohistochemistry
#14
JOURNAL ARTICLE
Meejeong Kim, Sora Jeon, Chan Kwon Jung
Follicular-patterned lesions often have indeterminate results (diagnostic category III or IV) by core needle biopsy (CNB) and fine needle aspiration (FNA). However, CNB diagnoses follicular neoplasm (category IV) more frequently than FNA. Therefore, we aimed to develop a risk stratification system for CNB samples with category III/IV using immunohistochemistry (IHC). The specificity of the RAS Q61R antibody was validated on 58 thyroid nodules with six different types of RAS genetic variants and 40 cases of RAS wild-type...
June 2023: Endocrine Pathology
https://read.qxmd.com/read/36960710/a-comprehensive-study-on-the-diagnosis-and-management-of-noninvasive-follicular-thyroid-neoplasm-with-papillary-like-nuclear-features
#15
JOURNAL ARTICLE
Bayan A Alzumaili, Lauren N Krumeich, Reagan Collins, Timothy Kravchenko, Emad I Ababneh, Adam S Fisch, William C Faquin, Vania Nosé, Maria Martinez-Lage, Gregory W Randolph, Rajshri M Gartland, Carrie C Lubitz, Peter M Sadow
Background: Since the noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTPs) was introduced in 2016, most retrospective studies have included cases diagnosed as encapsulated follicular variant of papillary thyroid carcinoma. We investigate a cohort diagnosed with NIFTP at resection. Methods: Retrospective institutional cohort of NIFTP from 2016 to 2022, including clinical, cytological, and molecular data for 319 cases (6.6% of thyroid surgeries, 183 cases as NIFTP-only). Results: The patient cohort had unifocal or multifocal thyroid nodules...
May 2023: Thyroid: Official Journal of the American Thyroid Association
https://read.qxmd.com/read/36744987/detection-of-driver-mutations-in-plasma-cell-free-nucleic-acids-in-differentiated-thyroid-neoplasm
#16
JOURNAL ARTICLE
Susmita Dutta, Soham Tarafdar, Pradip Mukhopadhyay, Nitai P Bhattacharyya, Sujoy Ghosh
IMPORTANCE: This proof-of-concept paper demonstrates that driver mutations can be detected in plasma in differentiated thyroid tumors, and we were able to detect mutations in upto 80% malignant thyroid nodules. Additionally, cancer subtypes could also be predicted using a 8-gene panel. In almost 90% follicular adenoma, rat sarcoma virus (RAS) mutations were detectable. There was a strong agreement between driver mutations found in plasma samples, FNAC materials, and histopathology samples...
January 10, 2023: European Journal of Endocrinology
https://read.qxmd.com/read/36592623/thyroid-fine-needle-aspiration-the-bethesda-system-and-the-brafv600e-mutation-in-papillary-thyroid-carcinoma-association-and-prediction-for-biopsy
#17
JOURNAL ARTICLE
María Eugenia Galan-Garcia, Maria Soledad Martínez-Martin, Eduardo José Araujo-Ruano, Juan Francisco Loro-Ferrer, Pedro Saavedra-Santana, Eduardo Salido-Ruiz, Juan Jose Cabrera-Galván
INTRODUCTION: BRAFV600E mutations have been associated with papillary thyroid carcinoma histological types including Tall-cell and Classical, peritumoral infiltration, and nuclear signs, whereas cytological features such as plump cells and sickle nuclei have also been associated with favorable thyroid FNA results for this tumor. BRAF and RAS are considered early driver mutations that contribute to the development of BRAF-like PTCs and RAS-like PTCs. Our aim was to assess the possible association between all Bethesda System cytological features and thyroid FNAs for papillary thyroid carcinoma and their potential predictive value for future BRAF V600E related biopsies...
January 2, 2023: Acta Cytologica
https://read.qxmd.com/read/36480828/-diagnostic-values-of-cyclin-d1-immunocytochemistry-and-molecular-testing-in-preoperative-fine-needle-aspiration-of-undeterminate-thyroid-nodules
#18
JOURNAL ARTICLE
S R He, J X Zhang, R M Chen, S T Hu, L Yang, L Chen, Z Zhang, D G Liu
Objective: To assess the value of cyclin D1 immunocytochemistry combined with a small panel molecular analysis in indeterminate cytological diagnosis of Bethesda category Ⅲ-Ⅴ. Methods: A consecutive cohort of 96 thyroid FNA specimens with indeterminate diagnosis (TBSRTC category Ⅲ-Ⅴ) and available histopathologic follow-up data were collected between December 2018 and December 2021 in Department of Pathology, Beijing Hospital. The cases were evaluated by cyclin D1 immunocytochemistry and molecular testing of BRAFV600E or a small panel of markers (BRAF, N-RAS, H-RAS, K-RAS and TERT) in the FNA specimens...
December 8, 2022: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://read.qxmd.com/read/36480743/molecular-testing-in-fine-needle-aspiration-of-thyroid-nodules
#19
JOURNAL ARTICLE
Valarie McMurtry, Sule Canberk, Georgios Deftereos
BACKGROUND: Thyroid nodules are commonly faced by clinicians as palpable nodules or incidentally identified on imaging. Nodules that are found to be suspicious by imaging can be biopsied by fine needle aspiration, which can yield material for molecular testing to refine the diagnosis. METHODS: The current literature concerning molecular testing in thyroid nodules including available commercial assays was reviewed and summarized. RESULTS/CONCLUSIONS: Commonly encountered alterations include mutations in RAS, BRAF, TERT promoter, PTEN, and DICER1 as well as fusions of RET, ALK, PAX8-PPARγ, and NTRK...
January 2023: Diagnostic Cytopathology
https://read.qxmd.com/read/36371345/eif1ax-mutation-in-thyroid-tumors-a-retrospective-analysis-of-cytology-histopathology-and-co-mutation-profiles
#20
JOURNAL ARTICLE
Noha Elsherbini, Dong Hyun Kim, Richard J Payne, Thomas Hudson, Véronique-Isabelle Forest, Michael P Hier, Alexandra E Payne, Marc P Pusztaszeri
BACKGROUND: The EIF1AX mutation has been identified in various benign and malignant thyroid lesions, with a higher prevalence in poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma, especially when combined with RAS or TP53 mutation. However, data and clinical significance of EIF1AX mutations in thyroid nodules is still limited. We investigated the prevalence of EIF1AX mutations and co-mutations in cytologically indeterminate thyroid nodules at our institution...
November 12, 2022: Journal of Otolaryngology—Head & Neck Surgery
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