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Detection of RAS mutation by pyrosequencing in thyroid cytology samples
Anna Guerra1, Mario Carrano2, Elisabetta Angrisani2
1Department of Medicine and Surgery, University of Salerno, Via Allende, 84081 Baronissi, Salerno, Italy.
International Journal of Surgery (London, England)
|May 29, 2014
Summary
Pyrosequencing reliably detects RAS mutations in thyroid aspirates, but its low sensitivity and specificity limit its use in distinguishing benign from malignant nodules in inconclusive fine-needle aspiration cytology results.
Area of Science:
- Oncology
- Molecular Diagnostics
- Cytopathology
Background:
- Fine-needle aspiration cytology (FNAC) is crucial for thyroid nodule diagnosis, but 20-40% of results are inconclusive.
- RAS mutations are potential tumor markers in differentiated thyroid cancer, yet their prevalence varies due to detection methods.
- Investigating novel methods for accurate RAS mutation detection in thyroid aspirates is essential.
Purpose of the Study:
- To evaluate the utility of pyrosequencing for detecting NRAS and KRAS mutations in thyroid fine-needle aspirates.
- To assess the prevalence of RAS mutations in benign hyperplastic nodules (HBN) and follicular thyroid carcinomas (FTC).
Main Methods:
- Analyzed 37 thyroid aspirates (16 HBN, 21 FTC) for NRAS(61) and KRAS(13) mutations using pyrosequencing.
- Quantified the percentage of mutated alleles in both benign and malignant samples.
Main Results:
- RAS mutations were detected in 31% of HBN and 62% of FTC.
- The median percentage of mutated alleles was below 50% in both groups, suggesting potential contamination or subclonal mutations.
- Pyrosequencing demonstrated reliability in detecting RAS mutations in thyroid aspirates.
Conclusions:
- Pyrosequencing is a dependable method for identifying RAS mutations in fine-needle thyroid aspirates.
- The test's limited specificity and sensitivity restrict its effectiveness in differentiating FTC from benign nodules in inconclusive FNAC cases.
