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Emerging Concepts in the Diagnosis and Workup of Thyroid Cancer PowerPoint Presentation

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About This Presentation

Slide 1 - About these slides SPEC – Short Presentation in Emerging Concepts Provided by the CAP as an aid to pathologists to facilitate discussion on the topic. Content has been reviewed by experts at the CAP, but does not necessarily reflect the official opinion of the College of American Pathologists. Non-CAP material with identified copyright source may only be copied or distributed under a license (permission) from the copyright holder, or under the doctrine of fair use. Version 1.0fc2, rev. 12/31/13
Slide 2 - Emerging Concepts in the Diagnosis and Work-up of Thyroid Cancer Short Presentation in Emerging Concepts (SPEC)
Slide 3 - Thyroid Nodules Found in 4-7% of U.S. adults Approximately 5% are malignant. Fine needle aspiration (FNA) mainstay of diagnosis Bethesda system: Six diagnostic categories Correlate with risk of malignancy and recommended clinical management
Slide 4 - Bethesda Diagnostic Categories (2009)
Slide 5 - Papillary thyroid carcinoma (PTC) Approximately 85% of thyroid cancers Often (50-60%) harbor mutations in BRAF gene Point mutation at codon 600 results in substitution of glutamate for valine (V600E) Most common mutation in PTC Mutation found more often in conventional and tall-cell variants
Slide 6 - BRAF V600E mutation leads to constitutive activation of the mitogen activated protein kinase (MAPK) signaling pathway
Slide 7 - Atypia of Undetermined Significance 10-15% of fine needle aspirations (FNAs) 5-15% risk of malignancy Often referred for diagnostic thyroidectomy Low but defined risk of complications
Slide 8 - BRAF in diagnosis of PTC BRAF V600E is VERY SPECIFIC (99.8%) for PTC. BRAF mutation is very strong evidence of PTC BRAF V600E is NOT SENSITIVE for PTC (49.5%) Failure to detect a BRAF mutation does NOT rule out PTC. Niche for BRAF testing in cases with indeterminate cytology? BRAF testing can increase the ability of FNA biopsy to reach a diagnosis.
Slide 9 - Studies evaluating BRAF in thyroid FNAs
Slide 10 - BRAF and PTC prognosis Numerous studies have found that PTC with mutated BRAF have more aggressive features Extrathyroidal extension, regional metastasis, etc. Even applies to small lesions (less than 1.0 cm) However, excellent prognosis in general for PTC Over 95% 10-year survival rate Targeted therapy against BRAF unlikely to markedly improve survival
Slide 11 - BRAF testing Predominantly occurs via PCR Assay should have the ability to detect the mutation in the background of normal cells seen in the cytology Can be performed on: Residual cytology sample in preservative solution after cytological examination Formalin fixed paraffin embedded tissue blocks and slides
Slide 12 - Conclusions BRAF testing can aid in diagnosing papillary thyroid carcinoma from cytology samples Particularly useful with indeterminate cytology Identifies PTC with more aggressive features. May help identify patients needing surgery. No current role in therapy selection Full prognostic significance still unknown
Slide 13 - Selected Resources Melck AL, Yip L, Carty SE. The utility of BRAF testing in the management of papillary thyroid cancer. Oncologist. 2010;15:1285-1293. Nikiforova MN, Kimura ET, Gandhi M, et al. BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. J Clin Endocrinol Metab 2003;88:5399-5404
Slide 14 - Additional Free Resource for CAP Members NOTE:  please remove this page before presenting. CAP Member Exclusive: CAP Pathology Resource Guides Focused on a specific hot-topic technology, these comprehensive guides highlights current resources, select journal articles, as well as CAP and non-CAP educational opportunities. And don’t miss the “Insights From Early Adopters” section in each guide to gain perspective from pioneering colleagues. AVAILABLE NOW: • Molecular Pathology (single gene test, small panel) • Genomic Analysis (large panel, exome, genome) Learn more: go to cap.org and type Pathology Resource Guides in the “search” field located at the top of your screen. “Extremely well done, of high practical and educational value.” “An outstanding overview of basic materials, including the technology and links to a number of individuals and centers that can assist.”
 

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