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Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
Papillary thyroid carcinomas with and without BRAF V600E mutations are morphologically distinct.
Alexander Finkelstein1, Gillian H Levy, Pei Hui
1Department of Pathology, Yale School of Medicine, 310 Cedar Street, New Haven, CT06520, USA.
Histopathology
|February 17, 2012
Summary
Papillary thyroid carcinomas (PTCs) with the BRAF V600E mutation show distinct morphological features compared to those without. Identifying these features can aid in selecting tumors for genetic testing.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- The BRAF V600E mutation is a frequent genetic alteration in papillary thyroid carcinomas (PTCs).
- This mutation leads to the production of an abnormal BRAF protein.
- Understanding the morphological differences between mutated and non-mutated PTCs is crucial.
Purpose of the Study:
- To identify distinctive morphological features in papillary thyroid carcinomas (PTCs) associated with the BRAF V600E mutation.
- To compare the characteristics of BRAF V600E-positive and negative PTCs.
Main Methods:
- BRAF V600E mutation status was determined using single-strand conformation polymorphism analysis of tumor DNA.
- Morphological features of 34 mutation-positive and 22 mutation-negative PTCs were analyzed.
- Statistical analysis was performed to identify significant associations between mutation status and morphological characteristics.
Main Results:
- BRAF V600E-positive PTCs were more prevalent in older patients (>45 years) and specific variants (classic, tall cell, oncocytic/Warthin-like, subcapsular sclerosing microcarcinomas).
- Follicular and diffuse sclerosing variants were predominantly mutation-negative.
- Mutation-positive tumors exhibited infiltrative growth, stromal fibrosis, psammoma bodies, plump eosinophilic cells, and classic nuclear features; encapsulation was associated with mutation-negative tumors.
Conclusions:
- Papillary thyroid carcinomas with and without the BRAF V600E mutation display significant morphological differences.
- Recognizing these distinct morphological patterns can assist in guiding the selection of appropriate tumors for BRAF V600E genetic testing.
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