Molecular Testing for Somatic Mutations Improves the Accuracy of Thyroid Fine‐needle Aspiration Biopsy

Moses, Willieford; Weng, Julie; Sansano, Ileana; Peng, Miao; Khanafshar, Elham; Ljung, Britt‐Marie; Duh, Quan‐Yang; Clark, Orlo H.; Kebebew, Electron

doi:10.1007/s00268-010-0720-0

Cited by 162 publications

(164 citation statements)

References 23 publications

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“…10,12 Moreover, we detected 10/48 mutated samples (21%) with a higher incidence of RAS variants in comparison with previous reports in Thy 3 patients. 10,16 In addition to establishing the evident advantages of HRM prescreening in terms of time and economic improvement, this pilot study confirmed the accuracy of the proposed method.…”

Section: Discussionsupporting

confidence: 55%

“…Approximately 20% of patients with FNAB biopsy showing indeterminate cytological features have thyroid cancer revealed on histological examination and may require a complete thyroidectomy. 12 Typical genetic alterations are described for most differentiated thyroid cancers, which constitute approximately 90% of all cases. 25 In clinical management, given the importance of a correct classification of cytologically undefined FNAB, rapid and accurate methods are needed to screen the most common somatic mutations in a series of known oncogenes.…”

Section: Discussionmentioning

confidence: 99%

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A High-Resolution Melting Protocol for Rapid and Accurate Differential Diagnosis of Thyroid Nodules

Mancini

Pinzani

Pupilli

et al. 2012

The Journal of Molecular Diagnostics

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Thyroid cancer is the most common malignancy of the endocrine system, accounting for approximately 1% of all malignancies in Western countries. 1 The incidence of thyroid cancer has increased 2.6-fold in the last 30 years. This change is attributed not only to an increment in papillary thyroid carcinoma, 2 but also to more wisely conducted medical surveillance and improvements in diagnostic tools. 3 The large majority of thyroid nodules, as discovered with the use of new diagnostic imaging techniques, are asymptomatic and benign. In this context, diagnostic studies are becoming essential to identify the small fraction of thyroid nodules that harbor malignant disease and to predict when surgery is indicated. Fine-needle aspiration biopsy (FNAB) has emerged over the past 30 years as an accurate and cost-effective procedure for the preoperative screening of thyroid nodules, representing the gold standard for differential diagnosis of benign and malignant nodules. 4 Under recent guidelines, 5,6 cytological smears are classified in five categories for the diagnostic report: Thy 1, nondiagnostic; Thy 2, benign or negative for malignant cells; Thy 3, all follicular lesions (including atypia/ follicular lesion of undetermined significance and follicular neoplasm or suspicious for follicular neoplasm); Thy 4, suspicious; and Thy 5, diagnostic for malignancy.Although the overall accuracy of FNAB is considered excellent, approximately 30% of cytological aspirates do not allow definitive diagnosis of malignancy, because of intrinsic and unavoidable characteristics of samples. 7 The major limitations of FNAB procedures are linked to inadequate and indeterminate specimens and, in that sense, are also linked respectively to the nondiagnostic or follicular lesions categories. 8,9 Thus, a clinical need emerges for the characterization of aspirates with suspicious features but with unsatisfactory cellularity, to allow accurate distinction of benign from malignant forms of follicular lesions.Several somatic mutations have been identified in thyroid cancer, stimulating the search for genetic alterations in FNAB that could increase the diagnostic accuracy of traditional cytology. Numerous studies have demonstrated that identification of specific mutations in cytological specimens can assist in the diagnosis by FNAB and in the clinical decision to excise the nodule and to intensify the follow-up. 10 -16 In most cases, genetic alterations are represented by activating mutations of oncogenes that are mutually exclusive and linked to distinct histological subtypes, with a demonstrated pathogenic role in thyroid cell transformation as effectors of the RAS/RAF/ MAPK signaling cascade.The presence of BRAF mutations, a frequent alteration in papillary carcinoma (PTC), evolves into an unregulated activation of the intracellular MAPK pathway that can promote tumorigenesis and tumor progression. The main mutation of BRAF, identified exclusively in PTC, affects

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Section: Discussionsupporting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

A High-Resolution Melting Protocol for Rapid and Accurate Differential Diagnosis of Thyroid Nodules

Mancini

Pinzani

Pupilli

et al. 2012

The Journal of Molecular Diagnostics

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“…TRK rearrangements may also be added to this panel. Presence of BRAF, RAS, RET/PTC, PAX8-PPAR␥ and TRK in FNAB samples correlated with malignancy in 97% of cases [196,197,212]. Therefore, detection of any mutation of this panel is a strong predictor for thyroid cancer.…”

Section: Molecular Targets In Histopathological Diagnosis and Classifmentioning

confidence: 98%

An update on molecular biology of thyroid cancers

Ömür

Baran

2014

Critical Reviews in Oncology/Hematology

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“…However, its results may not always be conclusive. Patients with non-diagnostic results in two consecutive thyroid FNABs and some patients with indeterminate follicular lesions are candidates for thyroid surgery, although only 10-20% of these tumours turn out to be cancerous [4,5].…”

Section: Introductionmentioning

confidence: 99%

“…In the majority of cases, these nodules are benign [2,3]. In 5% of fine-needle aspiration biopsies a thyroid cancer is diagnosed [4,5]. Standard pre-operative diagnostic tests of nodular goitre are mainly based on two investigations: a thyroid ultrasound (US) and ultrasound-guided fine-needle aspiration biopsy (US-FNAB).…”

Section: Introductionmentioning

confidence: 99%

Ocena częstości występowania mutacji genów BRAF, KRas oraz metylacji genu RASSF1A w wolu guzkowym na podstawie badania materiału cytologicznego uzyskanego drogą biopsji aspiracyjnej cienkoigłowej

Koziołek

Bińczak-Kuleta

Stepaniuk

et al. 2015

Endokrynologia Polska

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Frequency assessment of BRAF mutation, KRas mutation, and RASSF1A methylation in nodular goitre based on fine-needle aspiration cytology specimens Ocena częstości występowania mutacji genów BRAF, KRas oraz metylacji genu RASSF1A w wolu guzkowym na podstawie badania materiału cytologicznego uzyskanego drogą biopsji aspiracyjnej cienkoigłowej AbstractIntroduction: Standard pre-operative diagnosis of nodular goitre is not always conclusive. The decision about nodular goitre surgery is increasingly based on molecular methods. The aim of the study was to determine BRAF T1799A mutation and KRas proto-oncogene mutation, and the analysis of RASSF1A promoter methylation level in cytological material obtained from FNAB specimens of thyroid nodules. Material and methods:The study population consisted of 85 women and 12 men. The study material was genomic DNA isolated from peripheral blood and thyroid bioptates. Pyrosequencing was used for the evaluation of RASSF1 methylation level. KRas mutation was investigated with Sanger sequencing. BRAF mutation was analysed by standard methods of real-time amplification detection (real-time PCR) with the use of specific starters surrounding the mutated site. Results: A significant positive correlation was demonstrated between mean methylation of four CpG islands of RASSF1A gene and thyroid tumour volume and its largest diameter (p < 0.05). KRas mutation was not detected in any of the 97 patients. In 7/85 subjects (8.2%) BRAF mutation was observed. In 6/7 patients with BRAF mutation, FNAB of thyroid nodules confirmed a benign nature of the lesions; the material was non-diagnostic in one patient, and papillary thyroid cancer was diagnosed on the basis of postoperative histopathology assessment. Conclusions:The results of genetic tests reported in our study indicate that the presence of BRAF mutation or higher RASSF1A methylation levels in FNAB cytology specimens of benign lesions may be useful in the assessment of oncological risk, while the evaluation of KRas proto-oncogene mutation is not a valuable test in pre-operative diagnosis of nodular goitre. (Endokrynol Pol 2015; 66 (5): 384-393)

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Molecular Testing for Somatic Mutations Improves the Accuracy of Thyroid Fine‐needle Aspiration Biopsy

Cited by 162 publications

References 23 publications

A High-Resolution Melting Protocol for Rapid and Accurate Differential Diagnosis of Thyroid Nodules

A High-Resolution Melting Protocol for Rapid and Accurate Differential Diagnosis of Thyroid Nodules

An update on molecular biology of thyroid cancers

Ocena częstości występowania mutacji genów BRAF, KRas oraz metylacji genu RASSF1A w wolu guzkowym na podstawie badania materiału cytologicznego uzyskanego drogą biopsji aspiracyjnej cienkoigłowej

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