scholarly journals RET/PTC rearrangement in benign and malignant thyroid diseases: a clinical standpoint

2011 ◽  
Vol 165 (4) ◽  
pp. 499-507 ◽  
Author(s):  
Vincenzo Marotta ◽  
Anna Guerra ◽  
Maria Rosaria Sapio ◽  
Mario Vitale

Cytological examination of fine needle aspiration biopsy is the primary means for distinguishing benign from malignant nodules. However, as inconclusive cytology is very frequent, the introduction of molecular markers in the preoperative diagnosis of thyroid nodules has been proposed in recent years. In this article, we review the clinical implications of preoperative detection of rearrangements of theRETgene (RET/papillary thyroid carcinoma (PTC)) in thyroid nodules. The prevalence ofRET/PTCin PTC depends on the histological subtypes, geographical factors, radiation exposure, and detection method. Initially,RET/PTCwas considered an exclusive PTC hallmark and later it was also found sporadically in benign thyroid lesions. More recently, the very sensitive detection methods, interphase fluorescencein situhybridization (FISH) and Southern blot on RT-PCR amplicons, demonstrated that the oligoclonal occurrence ofRETrearrangement in benign thyroid lesions is not a rare event and suggested that it could be associated with a faster enlargement in benign nodules. For this reason,RET/PTCcannot be considered as an absolute marker of PTC, and its diagnostic application must be limited to assays able to distinguish between clonal and oligoclonal expression. Detection ofRET/PTCby quantitative assays will be useful for diagnostic purposes in cytology specimens when a precise cutoff will be fixed in a clinical setting. Until that time, less sensitiveRET/PTCdetection methods and FISH analysis remain the most appropriate means to refine inconclusive cytology. Future studies with a long follow-up will further clarify the clinical significance of low level ofRETrearrangements in benign nodules.

2003 ◽  
pp. 493-498 ◽  
Author(s):  
F Boi ◽  
ML Lai ◽  
C Deias ◽  
M Piga ◽  
A Serra ◽  
...  

OBJECTIVE: To assess the relevance of (99m)Tc-SestaMIBI (MIBI) scan in the diagnostic evaluation of thyroid nodules with oncocytic cytology. SUBJECTS AND METHODS: Twenty-four patients with a single (or prevalent) 'cold' solid nodule with Hurthle cells (HC) at fine needle aspiration cytology (FNAC) were studied. Cytological diagnosis of oncocytic metaplasia (OM) or HC tumor (HCT) was made when HC on the smear were comprised 10-75%, or >75%. Nodules concentrating MIBI at early and late (2 h after washout) stages were considered MIBI-positive. In all cases histological findings were obtained after total thyroidectomy. RESULTS: FNAC was malignant or suspect for malignancy in 16 cases (six HCT and 10 OM) and not suspect in eight (two HCT and six OM). Histological examination revealed 14 malignant tumors (11 HCT and three OM), and 10 benign thyroid lesions (three HCT and seven OM). Sensitivity of FNAC for malignancy was 92.8% and specificity was 70.0%; HCT were identified by FNAC in only 35.7% and OM in 70.0% of cases. No significant difference in MIBI positivity was found between malignant and benign thyroid nodules. The highest percentage of MIBI positivity was found in HCT (78.5%), but MIBI-positive nodules were also observed in thyroid lesions with HC metaplasia (40.0%). CONCLUSIONS: MIBI scintiscan has no value in differentiating malignant from benign HC thyroid neoplasias. Most HCT are MIBI-positive, but this scan is not sufficiently specific to differentiate true HC neoplasias from other thyroid lesions showing HC at FNAC, although an MIBI-negative scan strongly supports the absence of true HCT.


2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Ga Ram Kim ◽  
Jung Hyun Yoon ◽  
Eun-Kyung Kim ◽  
Hee Jung Moon ◽  
Jin Young Kwak

Background.Management of thyroid nodules with benign aspirates following atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) is not well established. We reviewed the risk of malignancy and the role of ultrasound (US) features among thyroid nodules with benign results following initial AUS/FLUS diagnoses.Methods.From December 2009 to February 2011, a total of 114 nodules in 114 patients diagnosed as benign on follow-up fine-needle aspiration (FNA) after AUS/FLUS results were included in our study. Eight among 114 nodules were confirmed pathologically and 106 were clinically observed by a follow-up FNA or US. Suspicious US features were defined as markedly hypoechogenicity, irregular or microlobulated margin, presence of microcalcifications, and taller than wide shape.Results.There were 110 (96.5%) benign nodules and 4 (3.5%) malignant nodules. Two (4.8%) among 42 nodules without suspicious US features and 2 (2.8%) out of 72 nodules with suspicious US features were confirmed as malignancy, but there were no significant associations between the malignancy rate and US features (P=0.625).Conclusion.Clinical follow-up instead of surgical excision or continuous repeat FNA may be enough for benign thyroid nodules after AUS/FLUS. The role of US features might be insignificant in the management of these nodules.


F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 23
Author(s):  
Ali I. E. Osman ◽  
Ahmed O. Almobarak ◽  
Asma Kamalaldin Mohammed ◽  
Nouh S. Mohamed ◽  
Mohamed S. Muneer ◽  
...  

Introduction: Fine-needle aspiration (FNA) cytology biopsy of the thyroid gland is an accurate and useful diagnostic tool in the initial evaluation of nodular thyroid lesions. We aimed in this study to determine the cytomorphological patterns of thyroid lesions diagnosed by FNA among Sudanese patients. Methods: A descriptive retrospective, clinic-based study was performed. Cytopathological records of patients that attended the Total Lab Care Clinic in Khartoum-Sudan between January 2016 and December 2017 were reviewed. Results: A total of 1646 patients records were reviewed; 1385 (84.1%) were females and 261 (15.9%) males. A total of 1563 (94.9%) were negative for malignancy, 39 (2.4%) were positive for malignancy, 42 (2.6%) were indeterminate for malignancy and 2 (0.1%) were non-diagnostic. Colloid goiter was seen in 1147 patients (73.4%), benign hemorrhagic cysts were seen in 257, Hashimoto thyroiditis was seen in 77, benign thyroid nodules were seen in 76, keratocysts were seen in 2, thyroglossal duct cysts were seen in 2, thyroid follicular adenoma was seen in 1 and myxedema was seen in 1. For malignant patients; 11 had anaplastic thyroid cancer, 8 had papillary thyroid cancer, 7 had follicular thyroid cancer, 5 had metastatic thyroid cancer, 4 had medullary thyroid cancer, 3 had non-Hodgkin lymphoma and 1 had thyroid follicular adenoma. For those indeterminate for malignancy, 24 had follicular neoplasm and 18 had Hurthle cell neoplasm. Conclusions: Fine needle aspiration cytology for thyroid nodules provides a rapid and non-invasive technique for the evaluation and differentiation between benign and malignant lesions. This study also addresses the increased predominance of benign thyroid lesions among young patients and thyroid malignancy among the 4th decade of life.


2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Carlo Cappelli ◽  
Ilenia Pirola ◽  
Elena Gandossi ◽  
Annamaria Formenti ◽  
Barbara Agosti ◽  
...  

The aim of the present prospective study was to evaluate the predictive value of elastography in benign thyroid nodules of patients affected by Hashimoto’s thyroiditis (HT). From January 2011 to January 2012, 242 nodules in patients affected by HT were submitted to fine needle aspiration cytology (FNAC). All of the patients underwent sonography and elastography performed before FNAC. 230 (95%) nodules were benign, 8 papillary cancers, and 4 follicular lesions. Score 1 was found in 79.1% of benign lesions (sensitivity 79.1%; specificity 66.7%; PPV 97.8%; NPV 14.3%; accuracy 78.5%;p<0.05). In order to evaluate the outcome of thyroid ultrasound echogenicity in relation to elastography features of nodule(s), all the patients with benign nodules were stratified according to their hypoechoic pattern of thyroid (mild-moderate and severe). Following stratification score 1 was found in 84.2% of benign nodules (sensitivity 75.0%; specificity 88.9%; PPV 27.3%; NPV 98.4%; accuracy 88.2%;p<0.0001) of patients with a mild-moderate ultrasound thyroid hypoechogenicity, whereas it was found in 60% of benign nodules(p=0.715)of patients with a marked thyroid hypoechogenicity. Elastography appears to have limited value in detecting thyroid cancer in patients affected by Hashimoto’s thyroiditis with severe hypoechoic thyroid tissue.


Author(s):  
Mehrdad Nabahati ◽  
Rahele Mehraeen ◽  
Zoleika Moazezi ◽  
Naser Ghaemian

Abstract Background The aim of this study was to investigate the diagnostic accuracy of microcalcification, as well as its associated sonographic features, for prediction of thyroid nodule malignancy. We prospectively assessed the patients with thyroid nodule, who underwent ultrasound-guided fine-needle aspiration during 2017–2020 in Babol, northern Iran. The ultrasonographic characteristics of the nodules, as well as their cytological results, were recorded. We used regression analysis to evaluate the relation between sonographic findings and nodule malignancy. A receiver operator characteristics (ROC) analysis was also used to estimate the ability of ultrasound to predict the characteristic features of malignancy, as estimated by the area under the curve (AUC). Results Overall, 1129 thyroid nodules were finally included in the study, of which 452 (40%) had microcalcification. A significant positive association was found between nodule malignancy and microcalcification in both univariate (OR=3.626, 95% CI 2.258–5.822) and multivariable regression analyses (OR=1.878, 95% CI 1.095–3.219). In the nodules with microcalcification, significant positive relations were seen between malignancy and hypoechogenicity (OR=3.833, 95% CI 1.032–14.238), >5 microcalcification number (OR=3.045, 95% CI 1.328–6.982), irregular margin (OR=3.341, 95% CI 1.078–10.352), and lobulated margin (OR=5.727, 95% CI 1.934–16.959). The ROC analysis indicated that AUC for hypoechogenicity, >5 microcalcification number, irregular margin, and lobulated margin were 60%, 62%, 55%, and 60%, respectively, in predicting malignant thyroid nodules. Conclusion The findings indicated that microcalcification can be a potential predictor of thyroid nodule malignancy. Also, the presence of irregular or lobulated margins, multiple intranodular microcalcification (>5 microcalcifications), and/or hypoechogenicity can improve the ability of microcalcification in distinguishing malignant from benign nodules.


2019 ◽  
Vol 70 (1) ◽  
pp. 62-67 ◽  
Author(s):  
Manijeh Mohammadi ◽  
Carrie Betel ◽  
Kirsteen Rennie Burton ◽  
Kevin McLughlin Higgins ◽  
Zeina Ghorab ◽  
...  

Objective To determine the incidence of malignancy, follow-up ultrasound (US), and repeat fine needle aspiration (FNA) in thyroid nodules that have been previously biopsied as benign. Methods This is a retrospective, descriptive study of benign thyroid nodules evaluated by US between 2010-2011. We determined the frequency of follow-up ultrasounds and FNAs, mean years of follow-up, interval between follow-up US, change in nodule size, reasons for repeat FNA (rFNA), frequency of thyroidectomy, and thyroid malignancy during 5 years of follow-up. Results A total of 733 benign thyroid nodules were reviewed in 615 patients. Mean years of US follow-up was 3.47 ± 1.65 years; 275 (37.5%) had no follow-up US; 109 (14.9%) had 1 follow-up US; 93 (12.7%) had 2 follow-up US; and 256 (34.9%) had 3 or more follow-up US. Assessment of thyroid nodule size showed that 215 (28.8%) nodules decreased in size, 145 (19.4%) increased in size by less than 50%, and 91 (12.1%) increased in size by more than 50%. Of the 733 nodules, 17 nodules (2.3%) underwent thyroidectomy for which the pathology result of 9 (1.2%) showed malignancy, and 65 (8.9%) thyroid nodules underwent rFNA. When applying the 2015 recommendations for repeat FNA, 35% were done unnecessarily. Conclusion In our sample of initially benign thyroid nodules, only 9 patients (1.2%) had pathology-proven malignancy after a mean follow-up of 3.5 years. Over 30% of patients had more than 3 rUSs. Decreased interval and frequency of rUS should be considered in future guidelines for thyroid management.


2017 ◽  
Vol 30 (6) ◽  
pp. 472
Author(s):  
Vera Fernandes ◽  
Tânia Pereira ◽  
Catarina Eloy

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.


Cancers ◽  
2021 ◽  
Vol 13 (21) ◽  
pp. 5439
Author(s):  
Davide Seminati ◽  
Giulia Capitoli ◽  
Davide Leni ◽  
Davide Fior ◽  
Francesco Vacirca ◽  
...  

Objective: The American College of Radiology (ACR) and the European Thyroid Association (EU) have proposed two scoring systems for thyroid nodule classification. Here, we compared the ability of the two systems in triaging thyroid nodules for fine-needle aspiration (FNA) and tested the putative role of an approach that combines ultrasound features and cytology for the detection of malignant nodules. Design and Methods: The scores obtained with the ACR and EU Thyroid Imaging Reporting and Data Systems (TIRADS) from a prospective series of 480 thyroid nodules acquired from 435 subjects were compared to assess their performances in FNA triaging on the final cytological diagnosis. The US features that showed the highest contribution in discriminating benign nodules from malignancies were combined with cytology to improve its diagnostic performance. Results: FNA was recommended on 46.5% and 51.9% of the nodules using the ACR and EU-TIRADS scores, respectively. The ACR system demonstrated a higher specificity as compared to the EU-TIRADS (59.0% vs. 52.4%, p = 0.0012) in predicting >TIR3A/III (SIAPEC/Bethesda) nodules. Moreover, specific radiological features (i.e., echogenic foci and margins), combined with the cytological classes improved the specificity (97.5% vs. 91%, p < 0.0001) and positive predictive values (77.5% vs. 50.7%, p < 0.0001) compared to cytology alone, especially in the setting of indeterminate nodules (TIR3A/III and TIR3B/IV), maintaining an excellent sensitivity and negative predictive value. Conclusions: The ACR-TIRADS system showed a higher specificity compared to the EU-TIRADS in triaging thyroid nodules. The use of specific radiological features improved the diagnostic ability of cytology.


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