scholarly journals Thyroid and Molecular Testing. Advances in Thyroid Molecular Cytopathology

2021 ◽  
Vol 2 (2) ◽  
pp. 77-92
Author(s):  
Esther Diana Rossi ◽  
Philippe Vielh
Keyword(s):  
Thyroid Nodules ◽  
Adult Population ◽  
Needle Aspiration ◽  
Common Finding ◽  
Molecular Testing ◽  
Additional Tool ◽  
Thyroid Cytology ◽  
Hürthle Cell ◽  
Cell Neoplasm ◽  
Undetermined Significance

Thyroid nodules are a common finding in the adult population including the fact that more than 50% of individuals, over the age of 60, have thyroid nodules. The majority have been mostly detected with ultrasonography and 10% by palpation. The majority of these nodules are benign, whereas 5–15% of them are malignant. The pre-operative diagnosis of cancer is a critical challenge in order to ensure that each patient can be treated with the best tailored management with a reduction of unnecessary surgery for benign lesions. Fine needle aspiration cytology (FNAC) represents the first and most important diagnostic tool for the evaluation of thyroid lesions. According to the literature, FNAC is able to render a conclusive diagnosis in up to 70–80% of all cases. For the remaining 20–30% of nodules, cytological diagnoses fall into the category of indeterminate lesions mostly due to the lack of specific morphological features. According to the Bethesda system for reporting thyroid cytopathology (TBSRTC), indeterminate lesions can be sub-stratified into three different subcategories including “atypia of undetermined significance/follicular lesion of undetermined significance-AUS/FLUS”; “follicular or Hürthle cell neoplasm/suspicious for follicular or Hürthle cell neoplasm-FN/SFN”; and “suspicious for malignancy-SFM”. Many of these indeterminate lesions undergo repetition or diagnostic lobectomy. Nonetheless, the majority of these cases will have a benign diagnosis due to the fact that the rate of cancer ranges between 6 and 30%. It stands to reason that the application of ancillary technique, mostly molecular testing, emerged as a critical additional tool for those thyroid indeterminate lesions. Since the early 1990s, material collected from cytological samples yields sufficient and adequate cells for the detection of point mutation or gene fusions. Nonetheless, the further availability of new sequencing technologies such as next-generation sequencing (NGS) has led to more comprehensive molecular applications adopted now in clinical use. The current review investigates the multiple advances in the field of molecular testing applied in thyroid cytology.

scholarly journals The Role of Molecular Testing for the Indeterminate Thyroid FNA

Genes ◽  
2019 ◽  
Vol 10 (10) ◽  
pp. 736 ◽  
Author(s):  
Esther Diana Rossi ◽  
Liron Pantanowitz ◽  
William C. Faquin
Keyword(s):  
Fine Needle Aspiration ◽  
Thyroid Nodules ◽  
Adult Population ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
American Thyroid Association ◽  
Cytological Diagnosis ◽  
Fine Needle ◽  
Thyroid Fna

Thyroid nodules are common in the adult population where a majority are benign and only 4.0% to 6.5% are malignant. Fine needle aspiration (FNA) is a key method used in the early stages to evaluate and triage patients with thyroid nodules. While a definitive cytological diagnosis is provided in more than 70–75% of all thyroid FNA cases, the group of indeterminate lesions offers a challenge in terms of interpretation and clinical management. Molecular testing platforms have been developed, are recognized as an option by the 2015 American Thyroid Association Guidelines, and are frequently used in conjunction with FNA as an integral part of the cytologic evaluation. In this review, the utility of molecular testing options for nodules assigned to the group of indeterminate thyroid FNAs is described.

scholarly journals Update on Molecular Testing for Cytologically Indeterminate Thyroid Nodules

2018 ◽  
Vol 142 (4) ◽  
pp. 446-457 ◽  
Author(s):  
Michiya Nishino ◽  
Marina Nikiforova
Keyword(s):  
Fine Needle Aspiration ◽  
Test Performance ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
Fine Needle ◽  
Diagnostic Uncertainty ◽  
Thyroid Cytology ◽  
Molecular Tests ◽  
Pubmed Search

Context.— Approximately 15% to 30% of thyroid nodules that undergo fine-needle aspiration are classified as cytologically indeterminate, presenting management challenges for patients and clinicians alike. During the past several years, several molecular tests have been developed to reduce the diagnostic uncertainty of indeterminate thyroid fine-needle aspirations. Objective.— To review the methodology, clinical validation, and recent peer-reviewed literature for 4 molecular tests that are currently marketed for cytologically indeterminate thyroid fine-needle aspiration specimens: Afirma, ThyroSeq, ThyGenX/ThyraMIR, and RosettaGX Reveal. Data Sources.— Peer-reviewed literature retrieved from PubMed search, data provided by company websites and representatives, and authors' personal experiences. Conclusions.— The 4 commercially available molecular tests for thyroid cytology offer unique approaches to improve the risk stratification of thyroid nodules. Familiarity with data from the validation studies as well as the emerging literature about test performance in the postvalidation setting can help users to select and interpret these tests in a clinically meaningful way.

Role of Ancillary Techniques in Thyroid Cytology Specimens

2019 ◽  
Vol 64 (1-2) ◽  
pp. 40-51 ◽  
Author(s):  
Michiya Nishino ◽  
Jeffrey F. Krane
Keyword(s):  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
Copy Number Alterations ◽  
Preoperative Risk ◽  
Thyroid Cytology ◽  
Molecular Tests ◽  
Preoperative Risk Stratification ◽  
Gene Expression Alterations

Ancillary molecular testing has emerged as a promising way to refine the preoperative risk stratification of thyroid nodules with indeterminate fine needle aspiration (FNA) biopsy results. Commercially available molecular tests for thyroid FNAs include those that analyze samples for mutations and gene fusions, gene expression alterations, microRNA expression alterations, chromosomal copy number alterations, or a combination thereof. This review summarizes the performance characteristics of the most current iterations of three tests currently marketed for cytologically indeterminate thyroid nodules: ThyroSeq v3, ThyGeNEXT/ThyraMIR, and Afirma Gene Sequencing Classifier.

scholarly journals Bethesda System for Reporting Thyroid Cytopathology in Pediatric Thyroid Nodules: Experience of a Tertiary Care Referral Center

2019 ◽  
Vol 144 (4) ◽  
pp. 473-477 ◽  
Author(s):  
Amer Heider ◽  
Stacy Arnold ◽  
Xin Jing
Keyword(s):  
Thyroid Nodules ◽  
Pediatric Population ◽  
Adult Population ◽  
Tertiary Care ◽  
Needle Aspiration ◽  
Follicular Neoplasm ◽  
American Thyroid Association ◽  
Bethesda System ◽  
Thyroid Cytopathology ◽  
Undetermined Significance

Context.— The Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer from The American Thyroid Association recommends fine-needle aspiration (FNA) as an essential tool for evaluation and management of pediatric thyroid nodules, and The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) as a guideline to categorize FNA cytologic findings. A few publications have focused on TBSRTC categorization in children. Objective.— To evaluate our institutional experience of using TBSRTC in the pediatric population. Design.— We conducted a retrospective data search for thyroid FNA specimens from patients younger than 21 years who were assessed by using TBSRTC categorization between January 1, 2011, and September 30, 2017. Cytologic and histologic diagnoses, rate of surgical follow-up, rate of histology-proven malignancy, and cytologic-histologic concordance were assessed in comparison with our previously published adult experience. Results.— Among a total of 201 specimens, benign category accounted for 103 (51.2%), followed by 35 (17.4%) malignant, 30 (14.9%) atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS), 14 (7.0%) nondiagnostic, 10 (5.0%) follicular neoplasm/suspicious for follicular neoplasm (FN/SFN), and 9 (4.5%) suspicious for malignancy (SFM) categories. Surgeries were subsequently performed in 100 of the 201 cases (49.8%). All surgically removed nodules categorized as malignant and SFM by FNA showed malignancy, while malignancy was evident in various proportions of specimens classified as AUS/FLUS (5 of 16; 31.3%), FN/SFN (1 of 9; 11.1%), and nondiagnostic (1 of 7; 14.2%). No malignancy was identified in the benign category. Cytologic-histologic concordance achieved 100% in malignant, SFM, and FN/SFN categories, and exceeded beyond 85% and 50% for benign and AUS/FLUS categories, respectively. Conclusions.— TBSRTC is effective for appropriate categorization of pediatric thyroid nodules. Risk of malignancy in thyroid nodules is higher for the pediatric than adult population. Understanding the difference in TBSRTC categorization between children and adults may aid in achieving more appropriate evaluation and management of pediatric thyroid nodules.

Risk of malignancy and neoplasia predicted by three molecular testing platforms in indeterminate thyroid nodules on fine-needle aspiration

2019 ◽  
Vol 47 (9) ◽  
pp. 853-862 ◽  
Author(s):  
Kristen L. Partyka ◽  
Karen Trevino ◽  
Melissa L. Randolph ◽  
Harvey Cramer ◽  
Howard H. Wu
Keyword(s):  
Fine Needle Aspiration ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
Fine Needle ◽  
Risk Of Malignancy

Contemporary Management of Thyroid Nodules

2021 ◽  
Vol 73 (1) ◽  
Author(s):  
Kristen Kobaly ◽  
Caroline S. Kim ◽  
Susan J. Mandel
Keyword(s):  
Thyroid Nodules ◽  
Cervical Lymphadenopathy ◽  
Standard Technique ◽  
Clinical History ◽  
Needle Aspiration ◽  
Annual Review ◽  
Publication Date ◽  
Molecular Testing ◽  
Risk Of Malignancy ◽  
Indeterminate Cytology

Thyroid nodules are common in the general population, with higher prevalence in women and with advancing age. Approximately 5% of thyroid nodules are malignant; the majority of this subset represents papillary thyroid cancer. Ultrasonography is the standard technique to assess the underlying thyroid parenchyma, characterize the features of thyroid nodules, and evaluate for abnormal cervical lymphadenopathy. Various risk stratification systems exist to categorize the risk of malignancy based on the ultrasound appearance of a thyroid nodule. Nodules are selected for fine-needle aspiration biopsy on the basis of ultrasound features, size, and high-risk clinical history. Cytology results are classified by the Bethesda system into six categories ranging from benign to malignant. When cytology is indeterminate, molecular testing can further risk-stratify patients for observation or surgery. Surveillance is indicated for nodules with benign cytology, indeterminate cytology with reassuring molecular testing, or non-biopsied nodules without a benign sonographic appearance. Expected final online publication date for the Annual Review of Medicine, Volume 73 is January 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

scholarly journals Punção Aspirativa de Nódulos da Tiroide: Vale a Pena Repetir?

2017 ◽  
Vol 30 (6) ◽  
pp. 472
Author(s):  
Vera Fernandes ◽  
Tânia Pereira ◽  
Catarina Eloy
Keyword(s):  
Fine Needle Aspiration ◽  
Thyroid Nodules ◽  
Significant Proportion ◽  
Cost Effective ◽  
Needle Aspiration ◽  
Fine Needle ◽  
High Concordance ◽  
Benign Nodules ◽  
Cytology Result ◽  
Undetermined Significance

Introduction: The fine-needle aspiration has a significant role in assessing the malignancy risk of thyroid nodules. There is uncertainty regarding the value of repeat fine-needle aspiration in benign nodules. This study aims to evaluate the concordance of results in consecutive fine-needle aspiration and to study the relevance of repetition in benign results.Material and Methods: Retrospective study of the 4800 thyroid nodules fine-needle aspiration held in Instituto de Patologia e Imunologia Molecular da Universidade do Porto between January 1, 2014 and May 2, 2016. Of the initial sample, we selected the repeated fine-needle aspiration on the same nodule.Results: The first fine-needle aspiration result of the 309 nodules underwent revaluation was non-diagnostic in 103 (33.3%), benign in 120 (38.8%) and atypia/follicular lesion of undetermined significance in 86 (27.8%). The agreement between the first and second fine-needle aspiration was significantly higher in cases with an initial benign result (benign: 85.8%, non-diagnostic: 27.2% and atypia/ follicular lesion of undetermined significance: 17.4%, p < 0.005). The fine-needle aspiration repeating motifs in initially benign nodules (n = 78) were repetition suggestion in 58, nodule growth in 17 and suspicious ultrasonographic features in 3.Discussion: The fine-needle aspiration repetition in nodules with initial non-diagnostic and atypia/follicular lesion of undetermined significance result changed the initial diagnosis in a significant proportion of patients, modifying their therapeutic approach. The high concordance of results in initially benign nodules makes fine-needle aspiration repetition not cost-effective in most cases.Conclusion: The fine-needle aspiration should be repeated when the initial cytology result is non-diagnostic or atypia/follicular lesion of undetermined significance.

scholarly journals ACR TI-RADS and ATA US scores are helpful for the management of thyroid nodules with indeterminate cytology

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Thayse Lozovoy Madsen Barbosa ◽  
Cleo Otaviano Mesa Junior ◽  
Hans Graf ◽  
Teresa Cavalvanti ◽  
Marcus Adriano Trippia ◽  
...  
Keyword(s):  
Thyroid Nodules ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
American Thyroid Association ◽  
Institutional Review ◽  
The Us ◽  
Risk Of Malignancy ◽  
Indeterminate Cytology

Abstract Background Cytologically indeterminate thyroid nodules currently present a challenge for clinical decision-making. The main aim of our study was to determine whether the classifications, American College of Radiology (ACR) TI-RADS and 2015 American Thyroid Association (ATA) guidelines, in association with The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC), could be used to stratify the malignancy risk of indeterminate thyroid nodules and guide their clinical management. Methods The institutional review board approved this retrospective study of a cohort of 140 thyroid nodules in 139 patients who were referred to ultrasound-guided fine-needle aspiration cytology (FNAC) from January 2012 to June 2016 with indeterminate cytological results (44 Bethesda III, 52 Bethesda IV and 44 Bethesda V) and in whom pre-FNAC thyroid US images and histological results after surgery were available. Each included nodule was classified by one radiologist blinded to the cytological and histological diagnoses according to the ACR TIRADS scores and the US patterns as recommended in the 2015 ATA guidelines. The risk of malignancy was estimated for Bethesda, TI-RADS scores, ATA US patterns and their combination. Results Of the 140 indeterminate thyroid nodules examined, 74 (52.9%) were histologically benign. A different rate of malignancy (p < 0.001) among Bethesda III, IV and V was observed. The rate of malignancy increased according to the US suspicion categories (p < 0.001) in both US classifications (TI-RADS and ATA). Thyroid nodules classified as Bethesda III and the lowest risk US categories (very low, low and intermediate suspicion by ATA and 2, 3 and 4a by TI-RADS) displayed a sensitivity of 95.3% for both classifications and a negative predictive value of 94.3 and 94.1%, respectively. The highest risk US categories (high suspicion by ATA and 4b,4c and 5 by TI-RADS) were significantly associated with cancer (odds ratios [ORs] 14.7 and 9.8, respectively). Conclusions Ultrasound classifications, ACR TI-RADS and ATA guidelines, may help guide the management of indeterminate thyroid nodules, suggesting a conservative approach to nodules with low-risk US suspicion and Bethesda III, while molecular testing and surgery should be considered for nodules with high-risk US suspicion and Bethesda IV or V.

scholarly journals The value of routine measurement of serum calcitonin on insufficient, indeterminate, and suspicious thyroid nodule cytology

2021 ◽  
Author(s):  
Murat Çalapkulu ◽  
Muhammed Erkam Sencar ◽  
Sema Hepsen ◽  
Hayri Bostan ◽  
Davut Sakiz ◽  
...  
Keyword(s):  
Thyroid Disease ◽  
Thyroid Nodules ◽  
Medullary Thyroid Cancer ◽  
Fine Needle Aspiration Biopsy ◽  
Needle Aspiration ◽  
Follicular Neoplasm ◽  
Serum Calcitonin ◽  
Routine Measurement ◽  
Number Of Patients ◽  
Undetermined Significance

Routine calcitonin measurement in patients with nodular thyroid disease is rather controversial. The aim of this study was to evaluate the contribution of serum calcitonin measurement in the diagnostic evaluation of thyroid nodules with insufficient, indeterminate, or suspicious cytology. Out of 1668 patients who underwent thyroidectomy with the diagnosis of nodular thyroid disease and were screened, 873 patients with insufficient, indeterminate, or suspicious fine needle aspiration biopsy results were included in the study. From the total number of patients in this study, 10 (1.1%) were diagnosed as medullary thyroid cancer (MTC) using histopathology. The calcitonin level was detected to be above the assay-specific cut-off in 23 (2.6%) patients ranging between 6.5 - 4450 pg/mL. While hypercalcitoninemia was detected in all 10 MTC patients, a false positive elevation of serum calcitonin was detected in 13 patients (1.5%). Of the MTC group, 7 patients had cytology results that were suspicious for malignancy (Bethesda V), one patient’s cytology showed atypia of undetermined significance (Bethesda III) and two patient’s cytology results were suspicious for follicular neoplasm (Bethesda IV). Among the cases with non-diagnostic cytology (Bethesda I), none of the patients were diagnosed with MTC. In conclusion, routine serum calcitonin measurement can be performed in selected cases rather than in all nodular thyroid patients. While it is reasonable to perform routine calcitonin measurement in patients with Bethesda IV and Bethesda V, this measurement was not useful in Bethesda I patients. In Bethesda III patients, patient-based decisions can be made according to their calcitonin measurement. Read more in PDF.

scholarly journals Surgical Outcome of Thyroid Nodules with Atypia of Undetermined Significance and Follicular Lesion of Undetermined Significance in Fine Needle Aspiration Biopsy

2017 ◽  
Vol 9 (3) ◽  
pp. 100-103
Author(s):  
Saad Alqahtani ◽  
Saif Alsobhi ◽  
Riyadh I Alsalloum ◽  
Saleh N Najjar ◽  
Hindi N Al-Hindi
Keyword(s):  
Fine Needle Aspiration ◽  
Surgical Outcome ◽  
Thyroid Nodules ◽  
Fine Needle Aspiration Biopsy ◽  
Needle Aspiration ◽  
Aspiration Biopsy ◽  
Fine Needle ◽  
Risk Of Malignancy ◽  
Needle Aspiration Biopsy ◽  
Undetermined Significance

ABSTRACT Aim To correlate selected clinical and ultrasonographic (US) characteristics with the final histopathological diagnosis in patients with atypia of undetermined significance (AUS) and follicular lesion of undetermined significance (FLUS), and whether this information can be used in planning the surgical approach. Materials and methods It is a retrospective study including the operated cases of AUS/FLUS from 2011 to 2014 treated at one center. Results This cohort included 87 women and 28 men. To test for independence between categorical variables, the chi-square test was used. There was no significant correlation between age or US variables and final pathological diagnosis. However, final diagnosis of malignancy was higher in men compared with women (64.3 and 41.4% respectively; p = 0.035). Furthermore, a significant association between the diagnosis of repeated fine needle aspiration biopsy (FNAB) and the final pathological diagnosis was noted (benign vs malignant, p = 0.005). Conclusion The FNAB has a significant role in the assessment of thyroid nodules. Our results showed no correlation between age, US variables, and the risk of malignancy. Male gender is associated with higher risk of malignancy. Clinical significance Determining the risk of malignancy and prediction of surgical outcome may help triaging cases for repeat FNA or proceeding to surgery. How to cite this article Alqahtani S, Alsobhi S, Alsalloum RI, Najjar SN, Al-Hindi HN. Surgical Outcome of Thyroid Nodules with Atypia of Undetermined Significance and Follicular Lesion of Undetermined Significance in Fine Needle Aspiration Biopsy. World J Endoc Surg 2017;9(3):100-103.

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