Detection of Papillary Thyroid Carcinoma by Analysis of BRAF and RET/PTC1 Mutations in Fine‐needle Aspiration Biopsies of Thyroid Nodules

Musholt, Thomas J.; Fottner, Christian; Weber, Matthias M.; Eichhorn, Waltraud; Pohlenz, Joachim; Musholt, Petra B.; Springer, Erik; Schad, Arno

doi:10.1007/s00268-010-0729-4

Cited by 71 publications

(64 citation statements)

References 52 publications

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“…of genetic alterations reaching 100% of sensitivity for PTC. Such a panel, including RET/PTC and mutated BRaf and Ras, has been proposed to refine the diagnosis of FNAC of thyroid nodules [10,15,32].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of RET/PTC rearrangement in benign and malignant thyroid nodules and its clinical application

et al. 2011

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The number of nodules found in the thyroid is grown in the last decades, largely due to increasing neck examination by ultrasound scan. As a result, the number of fine-needle aspiration cytology (FNAC) procedures is also increased. Although FNAC is the most sensitive and accurate method for the differential diagnosis of thyroid nodules, about 20% of them yields indeterminate results [1][2][3]. This uncertainty leads to unnecessary diagnostic thyroid surgery that may result Abstract. Fine-needle aspiration cytology (FNAC) is the primary means to distinguish benign thyroid nodules from malignant ones. About 20% of FNAC yields indeterminate results leading to unnecessary or delayed surgery. Many studies of tissue samples, the majority of which are retrospective advocate testing for RET rearrangements as a diagnostic adjunctive tool in thyroid nodules with indeterminate cytological findings. Because of the uncertain prevalence of RET rearrangements, its utility as a tumor marker is still controversial. The goal of this study was to establish the prevalence and the utility of testing for RET rearrangements in FNAC suspicious of cancer in a clinical setting. In this prospective study, we analysed a large series of thyroid aspirates by RT-PCR only and Southern blot on RT-PCR products for type 1 and 3 RET rearrangements. Results were compared with clinical findings, cytological diagnosis and final histopathology. By the higher sensitive Southern-blot on RT-PCR method, RET rearrangements were present in 36% of papillary thyroid carcinomas (RET/PTC-1, 12%; RET/PTC-3, 20%; both, 4%) and of 13.3% of benign nodules. By means of RT-PCR only, RET rearrangements were disclosed only in 14.3% of PTC and in 3.6% of benign nodules. No significant correlation was found between RET rearrangements and clinicopathological features of patients. These results indicate that molecular testing of thyroid nodules for RET/PTC must take into account of its high prevalence in benign nodules, inducing false positive diagnoses when the highly sensitive assay Southern-blot on RT-PCR is used. Its searching by means of RT-PCR only, has a specificity superior of conventional cytology and can be used to refine inconclusive FNAC.

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Section: Discussionmentioning

confidence: 99%

Prevalence of RET/PTC rearrangement in benign and malignant thyroid nodules and its clinical application

et al. 2011

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“…total thyroidectomy instead of lobectomy or frozen section) in patients with BRAF expression independently from the cytological category (32,35,36,37,38,39,40,41,42,43). All this literature concerning not only the diagnostic role of BRAF but its prognostic correlation with aggressiveness is of high impact in the SM group, for which a more extensive surgical approach can be considered when BRAF mutated cases underwent surgery, avoiding frozen section or useless lobectomy.…”

Section: Icck Brafkmentioning

confidence: 99%

Diagnostic and prognostic value of immunocytochemistry and BRAF mutation analysis on liquid-based biopsies of thyroid neoplasms suspicious for carcinoma

Rossi

Martini

Capodimonti

et al. 2013

European Journal of Endocrinology

104

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Objective: In the field of fine-needle aspiration cytology, the category of suspicious for malignancy (SM) thyroid lesions, that bears 55-85% risk of malignant histology, is a challenging topic in which morphology alone is not always able to make a correct diagnosis. Recently, immunocytochemistry (ICC) has been referred to as helpful in differentiating low-and high-malignant risk lesions and BRAF activating mutations have been identified in a significant amount of papillary thyroid carcinomas (PTC). The introduction of the liquid-based cytology (LBC) may simplify the application of these techniques to thyroid cytology. Design: Our aim is to evaluate the diagnostic and prognostic role of both ICC and BRAF mutation for the SM category on LBC. Methods: From October 2010 through June 2011, 113 LBC cytological cases (including 37 SM and 76 PTC) underwent surgery. All cases were studied for BRAF mutation and ICC. Results: ICC resulted positive in 26 (86.6%) histologically malignant SM with 15 of which (40.5%) expressing a BRAF mutation. Overall, 63 cases showed a BRAF mutation resulting in PTC. Concerning the prognostic role of BRAF mutation for the two categories, we reported a significant correlation with multifocality, nodal involvement and extra-capsular invasion (P!0.0001). Conclusions: Special techniques such as ICC and molecular markers might be successfully carried out on LBC-processed material. For both categories, ICC is more sensitive whereas BRAF analysis is an interesting support due to its high specificity adding a prognostic value in both SM and PTCs.

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“…Nodular thyroid disease is one of the most frequently diagnosed pathologies, which affects up to 50% of the adult population in iodine-deficient regions [16]. It is less frequent amongst young people and increases progressively with age [10].…”

Section: Discussionmentioning

confidence: 99%

Wartość powtórnego badania stanu mutacji genu BRAF V600E w diagnostyce raka brodawkowatego tarczycy

Beiša

Stoškus

et al. 2016

Endokrynologia Polska

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Introduction: Nodular thyroid disease is one of the most frequently diagnosed pathologies of the adult population in iodine-deficient regions. Approximately 30% of thyroid aspirates are classified as nondiagnostic/unsatisfactory or indeterminate. However, patients with indeterminate cytology still undergo surgery. The object of this study was to determine the diagnostic value of re-examining the BRAF V600E mutation in papillary thyroid carcinoma patients. Material and methods: All patients underwent ultrasound guided fine-needle aspiration of a thyroid nodule. They were assigned to one of the four groups (indeterminate or positive for malignant cells) of the Bethesda System for Reporting Thyroid Cytopathology. Genetic investigation of the BRAF V600E mutation was performed for all of the fine-needle aspiration cytology specimens. All of the patients underwent surgery. Subsequently, histological investigation of the removed tissues was performed. Additional analysis of the BRAF V600E mutation from the histology specimen was then performed for the initially BRAF-negative cases. Results: Two hundred and fourteen patients were involved in the study. One hundred and six (49.53%) patients were diagnosed with thyroid cancer. Of these 106 patients, 95 (89.62%) patients were diagnosed with papillary thyroid cancer. The BRAF V600E mutation was positive in 62 (65.26%) and negative in 33 (34.74%) histologically confirmed papillary thyroid cancer cases. After the genetic investigation, a total of 74 (77.89%) papillary thyroid cancer cases were positive for the BRAF V600E mutation and 21 (22.11%) were negative. Conclusions: Repeated examination of the BRAF V600E mutation status in the fine-needle aspiration may potentially increase the sensitivity of papillary thyroid cancer diagnostics.

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Detection of Papillary Thyroid Carcinoma by Analysis of BRAF and RET/PTC1 Mutations in Fine‐needle Aspiration Biopsies of Thyroid Nodules

Cited by 71 publications

References 52 publications

Prevalence of RET/PTC rearrangement in benign and malignant thyroid nodules and its clinical application

Prevalence of RET/PTC rearrangement in benign and malignant thyroid nodules and its clinical application

Diagnostic and prognostic value of immunocytochemistry and BRAF mutation analysis on liquid-based biopsies of thyroid neoplasms suspicious for carcinoma

Wartość powtórnego badania stanu mutacji genu BRAF V600E w diagnostyce raka brodawkowatego tarczycy

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