Utility of BRAF V600E mutation detection in cytologically indeterminate thyroid nodules
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TLDR
When used with indeterminate FNA samples, BRAF mutation analysis may be a useful adjunct technique for confirming the diagnosis of malignancy in an otherwise equivocal case, however, overall tumor cell content of some archival FNA smear slides is a limiting factor for mutation detection.Abstract:
Fine needle aspiration (FNA) is widely utilized for evaluation of patients with thyroid nodules. However, approximately 30% are indeterminate for malignancy. Recently, a mutation in the BRAF gene has been reported to be the most common genetic event in papillary thyroid carcinoma (PTC). In this retrospective study, we assessed the utility of BRAF V600E mutation detection for refining indeterminate preoperative cytologic diagnoses in patients with PTC.read more
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Guidelines for the management of thyroid cancer
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BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases, and clinical implications.
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Molecular Testing for Somatic Mutations Improves the Accuracy of Thyroid Fine-needle Aspiration Biopsy
Willieford Moses,Julie Weng,Ileana Sansano,Miao Peng,Elham Khanafshar,Britt-Marie Ljung,Quan-Yang Duh,Orlo H. Clark,Electron Kebebew +8 more
TL;DR: Genetic testing for somatic mutations in thyroid FNABiopsy samples is feasible and identifies a subset of malignant thyroid neoplasms that are indeterminate or suspicious on FNA biopsy.
References
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TL;DR: BRAF somatic missense mutations in 66% of malignant melanomas and at lower frequency in a wide range of human cancers, with a single substitution (V599E) accounting for 80%.
Journal ArticleDOI
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Ahmedin Jemal,Ram C. Tiwari,Taylor Murray,Asma Ghafoor,Alicia Samuels,Elizabeth Ward,Eric J. Feuer,Michael J. Thun +7 more
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Journal Article
High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma.
Edna Teruko Kimura,Marina N. Nikiforova,Zhaowen Zhu,Jeffrey A. Knauf,Yuri E. Nikiforov,James A. Fagin +5 more
TL;DR: It is shown that a somatic mutation of BRAF, V599E, is the most common genetic change in PTCs, and represents a unique paradigm of human tumorigenesis through mutation of three signaling effectors lying in tandem.
Journal ArticleDOI
Fine-Needle Aspiration Biopsy of the Thyroid: An Appraisal
Hossein Gharib,John R. Goellner +1 more
TL;DR: The utility and limitations of fine-needle aspiration biopsy in the evaluation and management of thyroid nodules are examined by reviewing studies reported in the literature from 1982 to 1991 and using 12 years of experience with more than 11 000 biopsies to offer a reasoned approach to the management of nodular thyroid disease.
Journal ArticleDOI
BRAF Mutations in Thyroid Tumors Are Restricted to Papillary Carcinomas and Anaplastic or Poorly Differentiated Carcinomas Arising from Papillary Carcinomas
Marina N. Nikiforova,Edna Teruko Kimura,Manoj Gandhi,Paul W. Biddinger,Jeffrey A. Knauf,Fulvio Basolo,Zhaowen Zhu,Riccardo Giannini,Giuliana Salvatore,Alfredo Fusco,Massimo Santoro,James A. Fagin,Yuri E. Nikiforov +12 more
TL;DR: BRAF mutations are associated with distinct phenotypical and biological properties of papillary carcinomas and may participate in progression to poorly differentiated and anaplastic carcinomas.
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