Multiplex PCR approach to simultaneously identify several mutations in fine needle cytology thyroid samples.
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ABSTRACT:
SUBMITTER: Vuttariello E
PROVIDER: S-EPMC5564773 | biostudies-other | 2017 Jul
REPOSITORIES: biostudies-other
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Project description:OBJECTIVES: Fine needle aspiration cytology (FNAC/FNA) is the primary investigation for thyroid nodules. Fine needle capillary cytology (FNCC/FNC) is an alternative technique not commonly used, though it is easy to perform. Both the techniques have their own advantages and disadvantages. This study aims to compare these two cytological techniques for better specimen and cytological diagnosis. METHODS: This prospective study was conducted on 50 patients attending the FR Muller Medical College Hospital from May 2006 to April 2008. The patients with thyroid nodules (diagnosed by palpation) were subjected to both the cytological techniques; FNA and FNC. The specimen and results were compared and then correlated with the final histopathological findings wherever surgical specimens were available (38 cases). RESULTS: The mean age of the patients was 39.16 with a female predominance. The majority of cases were diagnosed to have nodular goiters. The FNC technique yielded 88% diagnostic superiority and adequate specimens compared to 94% by FNA. Sensitivity was 50% for FNC and 100% for FNA while specificity was 100% for both techniques; accuracy score was 97.4% for FNC and 100% for FNA in predicting malignancy. While sensitivity was 75% for FNC and 100% for FNA; specificity was 100% for both techniques, and accuracy score was 97.4% for FNC and 100% for FNA in the prediction of neoplasia. CONCLUSION: The results indicated that there was no significant difference between the two techniques; if done in tandem can give better and accurate cytological diagnosis. In highly cellular lesions, in which abundant material was obtained, FNC was more likely to be diagnostically superior, but FNA can diagnose most of the lesions. In less cellular lesions, FNA is more likely to be diagnostically superior to FNC.
| S-EPMC3321336 | biostudies-other
Project description:Background. Fine-needle aspiration (FNA) can cause misdiagnosis of cytomorphological findings between parathyroid and thyroid lesions. Case Presentation. A 31-year-old man presented with a palpable neck mass on the right thyroid lobe. FNA cytology was reported as intrathyroidal lymphoid hyperplasia. After 5 years, repeated FNA was done on the enlarged nodule with result of Hürthle cell lesion. Prior to right lobectomy, laboratories revealed elevated serum calcium and parathyroid hormone (PTH). Careful history taking revealed chronic knee pain and ossifying fibroma at the maxilla. Ultrasonography showed a 2.8 cm mass inferior to right thyroid lobe. Pathology from en bloc resection was parathyroid carcinoma and immunohistochemical study revealed positivity for PTH. Genetic analysis found somatic mutation of CDC73 gene in exon1 (c.70delG) which caused premature stop codon in amino acid 26 (p.Glu24Lysfs*2). The final diagnosis was hyperparathyroidism-jaw tumor syndrome. Conclusions. FNA cytology of parathyroid can mimic thyroid lesion. It is important to consider and correlate the entire information from clinical history, laboratory, imaging, and FNA.
| S-EPMC4142373 | biostudies-literature
Project description:BackgroundMedullary thyroid carcinoma (MTC) is an aggressive malignancy originating from the parafollicular C cells. Preoperatively, thyroid nodule fine-needle aspiration cytology (FNAC) and pathogenic gene mutations are definitive in approximately one-half of cases. MicroRNAs (miRNAs) are endogenous, noncoding, single-stranded RNAs that regulate gene expression, a characteristic that confers the potential for identifying malignancy. In the current study, the authors hypothesized that differential pairwise (diff-pair) analysis of miRNA expression levels would reliably identify MTC in FNA samples.MethodsThe relative abundance of 10 different miRNAs in total nucleic acids was obtained from ThyraMIR test results. Diff-pair analysis was performed by subtracting the critical threshold value of one miRNA from the critical threshold values of other miRNAs. Next-generation sequencing with the ThyGeNEXT panel identified oncogenic gene alterations. The discovery cohort consisted of 30 formalin-fixed, paraffin-embedded benign and malignant thyroid neoplasms, including 4 cases of MTC. After analytical validation, clinical validation was performed using 3 distinct cohorts (total of 7557 specimens).ResultsIn the discovery cohort, 9 diff-pairs were identified as having significant power using the Kruskal-Wallis test (P < .0001) to distinguish MTC samples from non-MTC samples. The assay correctly classified all MTC and non-MTC samples in the analytical validation study and in the 3 clinical validation cohorts. The overall test accuracy was 100% (95% confidence interval, 99%-100%). In indeterminate FNAC samples, the sensitivity of the diff-pair analysis was greater than that of the MTC-specific mutation analysis (100% vs 25%; P = .03).ConclusionsPairwise miRNA expression analysis of ThyraMIR results were found to accurately predict MTC in thyroid FNA samples, including those with indeterminate FNAC findings.
| S-EPMC7984450 | biostudies-literature
Project description:BACKGROUND:Fine needle aspiration Cytology (FNAC) fulfills a reliable role in the evaluation of thyroid lesions. Although the majority of nodules are quite easily diagnosed as benign or malignant, 30% of them represent an indeterminate category whereby the application of ancillary techniques (i.e. immunocytochemistry-ICC and molecular testing) has been encouraged. The search for a specific immunomarker of malignancy sheds light on a huge number of ICC stains although none of them attempt to yield 100% conclusive results. Our aim was to define in a pilot study on thyroid FNAC whether CD56 might be a valid marker also in comparison with HBME-1 and Galectin-3. MATERIALS AND METHODS:Inasmuch as this is the largest pilot study using only liquid based cytology (LBC), we selected all the cases only in the categories of benign nodules (BN) and positive for malignancy (PM) for validation purposes. Eighty-five consecutive (including 50 PM and 35 BN) out of 950 thyroid FNACs had surgical follow-up. The ICC panel (HBME-1, Galectin-3 and CD56) was carried out on LBC and histology. RESULTS:All BNs and PMs were histological confirmed. CD56 was negative in 96% of the PM while 68.5% of the BNs showed cytoplasmic positivity for this marker, with an overall high sensitivity (96%) but lower specificity (69%). In specific, our 96% of the PMs did not show any follicular cell with CD56 expression. Different ICC combinations were evaluated showing that the panel made up of CD56 plus HBME-1 and Galectin-3 had the highest sensitivity (98%) and specificity (86%). CONCLUSIONS:Our pilot study suggests that CD56 may be a good marker for ruling out PTC and its variants. The low specificity suggests that an immunopanel including also HBME-1 and Galectin-3 could obtain the highest diagnostic accuracy in thyroid lesions. Our results suggest that CD56 may be a feasible additional marker for identifying malignancies also in the FNs and SMs.
| S-EPMC4505897 | biostudies-literature
Project description:BackgroundThyroid nodules are common diseases, frequent in middle-aged women; only 5%-30% are malignant. Fine needle aspiration cytology is a simple, rapid and non invasive diagnostic test, performed to predict malignancy and avoid unnecessary surgery.The aim of this study is to evaluate the accuracy of fine needle aspiration in the management of thyroid lesions.Materials and methodsOur study was retrospective, including all cases of thyroid fine needle aspiration between January 2010 and December 2017, which were verified by microscopic examination, Data was obtained from the files of Pathology and ENT Department of Farhat Hached Hospital of Sousse and from nuclear medicine department of Sahloul Hospital of Sousse, Tunisia.ResultsA total of 58 cases were studied, the main age was 40 ± 15,57 years and the sex ratio was 0.03 with female predominance. Concordance between fine needle aspiration and histology was seen in 45 cases. The sensitivity was 60% and the specificity was 100%. The negative and positive predictive values were 100 and 92%, respectively. The concordance index Kappa was of 0.67.ConclusionThyroid fine needle aspiration in experienced hands is an easily performed diagnostic procedure with very little associated risk. It should be performed in suspect nodules for treatment stratification.
| S-EPMC7890107 | biostudies-literature
Project description:BackgroundBRAF exon 15 p.V600E (BRAF V600E) mutation has been established as an important molecular marker for papillary thyroid carcinoma diagnosis by ultrasound-guided fine-needle aspiration biopsy (FNAB). Sanger sequencing is the gold standard for detecting BRAF V600E mutations but fails to identify low-frequency mutations. However, droplet digital PCR (ddPCR) is a popular new method for detecting low-frequency mutations. Here, we compare the efficiency of droplet digital PCR (ddPCR) and Sanger sequencing for detection of the BRAF V600E mutation in thyroid fine-needle aspiration (FNA) samples.MethodsThyroid fine-needle aspiration samples from 278 patients with 310 thyroid nodules were collected. Sanger sequencing and ddPCR were conducted to detect the BRAF V600E mutation.ResultsThe BRAF V600E mutation was found in 94 nodules (30.32%) by ddPCR and 40 nodules (12.90%) by Sanger sequencing in 310 FNA samples. A total of 119 nodules were confirmed PTC by postsurgical pathology. Among which the BRAF mutation was found in 80 (67.23%) nodules by ddPCR and 31 (26.05%) by Sanger sequencing. All nodules carrying the mutation detected by Sanger sequencing (SS+) were verified by ddPCR (ddPCR+). Also, all nodules with no mutation detected by ddPCR were interpreted as wild-type by Sanger sequencing (SS-). In addition. Almost all SS+/ddPCR + nodules (95.00%; 38/40) and SS-/ddPCR + nodules (100.00%; 54/54) displayed a BRAF mutation rate of >5% and <15%, respectively, indicating easy misdetection by Sanger sequencing when the mutation rate is between 5 and 15%.ConclusionddPCR has higher sensitivity than Sanger sequencing and we propose ddPCR as a supplement to Sanger sequencing in molecular testing of BRAF using FNAB samples.
| S-EPMC8983273 | biostudies-literature
Project description:BackgroundMicroRNA (miR) expression signatures are proposed to be able to differentiate thyroid cancer from benign thyroid lesions. We selected eight miRs (miR-146b, -221, -187, -197, -346, -30d, -138, and -302c) to examine the potential use of miRs to supplement diagnostic cytology in cases designated as "atypia of undetermined significance."MethodsmiR expression was measured in thyroid fine needle aspiration (FNA) specimens by quantitative polymerase chain reaction. Gene expression analyses and linear discriminant analysis (LDA) were performed in a training sample set (n=60) to obtain a classification rule to predict FNA cases as benign or malignant. The predictions were cross-validated by comparing with the corresponding histological diagnoses. A validation sample set (n=68) was further tested with the established four-miR LDA classification rule.ResultsA set of four miRs (miR-146b, -221, -187, and -30d) was identified that could differentiate malignant from benign lesions. A four-miR LDA classification rule was obtained and used to predict FNA cases as benign or malignant. For the training sample set, we obtained a diagnostic accuracy of 93.3%, sensitivity of 93.2%, specificity of 93.8%, positive predictive value (PPV) of 0.98, and negative predictive value (NPV) of 0.83. For the validation sample set, we obtained a diagnostic accuracy of 85.3%, sensitivity of 88.9%, specificity of 78.3%, PPV of 0.89, and NPV of 0.78. For the 30 atypia cases in the validation sample set, we obtained a diagnostic accuracy of 73.3%, sensitivity of 63.6%, specificity of 78.9%, PPV of 0.64, and NPV of 0.79. Based on the miR predictions, we classified the atypia cases predicted as "malignant" into "high risk" and those predicted as "benign" into "low risk" categories. While thyroid carcinomas, particularly papillary thyroid carcinomas (PTCs), were relatively enriched in the high-risk category, this particular miR panel is subject to inaccurate results in follicular neoplasias in atypia cases.ConclusionsWe demonstrate that miR amplification from FNA samples is feasible and that the particular four miR profile in this study can identify PTCs. However, further refinement is required for application to FNA cytology of "atypia of undetermined significance" cases due to low accuracy in classifying follicular neoplasias.
| S-EPMC3247703 | biostudies-literature
Project description:BACKGROUND/AIMS:Lymphocytic thyroiditis as cytology diagnosis from fine needle aspiration (FNA) is frequently detected in patients with thyroid nodules. However, the clinical outcome for upcoming hypothyroid events has been rarely clarified in euthyroid patients. METHODS:We retrospectively reviewed the data of patient who had lymphocytic thyroitidis on FNA cytology of thyroid nodule from January 2005 to December 2010 at a tertiary referral hospital. In total, 109 patients with follow-up thyroid function tests (TFT) were enrolled. Final outcomes included overt and subclinical hypothyroidism with thyroid stimulating hormone (TSH) levels ? 10 mIU/L. Potential parameters predicting clinical hypothyroidism were analyzed by multivariate analysis. RESULTS:Over the mean follow-up duration of 51.6 months, 14 out of 109 patients (12.8%) developed clinical hypothyroidism that required thyroid hormone replacement. The median onset time to hypothyroidism was 16 months (range, 3 to 88) and ? 60% of patients experienced clinical hypothyroidism within 1 year. By multivariate analysis, background thyroiditis (relative risk [RR], 9.78; p = 0.004), thyroid peroxidase antibody positivity (RR, 9.90; p = 0.003), nodule size (RR, 1.24; p < 0.001), and initial TSH (RR, 1.47; p = 0.009) were the independent risk factors for predicting hypothyroidism in euthyroid patients. CONCLUSION:Hypothyroidism frequently occurs during the follow-up in euthyroid patients with thyroid nodules which show lymphocytic thyroiditis on FNA cytology. Close surveillance and regular TFT are needed in high-risk patients for upcoming clinical hypothyroidism.
| S-EPMC6823571 | biostudies-literature
Project description:BackgroundThyroid nodules are a common clinical finding and most are benign, however, 5-15% can be malignant. There is limited regional data describing the accuracy of ultrasound-guided fine needle aspiration (FNA) cytological examination compared to ultrasound examination of thyroid in patients who have undergone thyroid surgery.MethodsA retrospective analysis of ultrasonographic (US) reports, FNA cytology reports and histopathology reports of 161 thyroid nodules presented at the endocrine center at Tawam hospital in Al Ain city, the United Arab Emirates during the period 2011-2019 was performed. US reports and images with FNA cytopathology reports and slides were reviewed by an independent radiologist and pathologist.ResultsIn total, 40 nodules were reported as benign by US examination, while very low suspicious, low suspicious, intermediate suspicious and highly suspicious categories were reported in 21, 41, 14 and 45 nodules respectively. In addition, 68 nodules were reported as benign (Bethesda category II), while atypical follicular cells of unknown significance (Bethesda category III), follicular neoplasm (Bethesda category IV), suspicious for malignancy (Bethesda category V), and malignant (Bethesda category VI) categories were reported in 33, 9, 24 and 27 nodules respectively. The risk of malignancy for US benign nodules was 5%, while the risks of malignancy in very low suspicious, low suspicious, intermediate suspicious and highly suspicious nodules were 52%, 36%, 100% and 87%, respectively. The risk of malignancy for Bethesda category II was 3%, while the risks of malignancy in category III, IV, V and VI were 58%, 67%, 96% and 100%, respectively.ConclusionThyroid FNA cytological examination and ultrasonography are key tools in predicting malignancy in thyroid nodules. Thyroid nodules with the diagnosis of Bethesda category III & IV run a high risk of malignancy thus more vigilance is required.
| S-EPMC8026079 | biostudies-literature
Project description:Breast biopsy consists in the collection of cells or tissue fragments from a breast lesion and their analysis by a pathologist. There are several types of breast biopsy defined on the basis of the type of needle used: fine-needle aspiration and biopsy performed with a spring-based needle. This article focuses on fine-needle aspiration performed under sonographic guidance.It is used mainly to assess cysts that appear to contain vegetations or blood or that are associated with symptoms; lesions and solid nodules that are not unequivocally benign; and axillary lymph nodes that appear suspicious on physical examination and/or sonography.In addition to distinguishing between benign and malignant lesions, ultrasound guided fine-needle aspiration also plays an important role in tumor grading and in immunocytochemical identifying specific tumor markers. This article describes the technique used and the possible causes of false negative and false positive findings. Despite its limitations, fine-needle aspiration has become a fundamental tool for the identification and preoperative management of malignant breast lesions.
| S-EPMC3558104 | biostudies-literature