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Next-generation sequencing improves the diagnosis of thyroid FNA specimens with indeterminate cytology
- Source :
- Histopathology. 66(2)
- Publication Year :
- 2014
-
Abstract
- Aims The assessment of thyroid nodules is a common clinical challenge. Fine-needle aspiration (FNA) is the standard pre-operative tool for thyroid nodule diagnosis. However, up to 30% of the samples are classified as indeterminate. This often leads to unnecessary surgery. In this study, we evaluated the added value of next-generation sequencing (NGS) for helping in the diagnosis of FNA samples. Methods and results We analysed retrospectively 34 indeterminate FNA samples for which surgical resection was performed. DNA was obtained from cell blocks or from stained smears and subjected to NGS to analyse mutations in 50 genes. Mutations in BRAF, NRAS, KRAS and PTEN, that are known to be involved in thyroid cancer biology, were detected in seven FNA samples. The presence of a mutation in these genes was a strong indicator of cancer because five (71%) of the mutation-positive FNA samples had a malignant diagnosis after surgery. Moreover, there was only an 8% cancer risk in nodules with an indeterminate cytological diagnosis but with a negative molecular test. Conclusion This study demonstrates that thyroid FNA can be analysed successfully by NGS. The detection of mutations known to be involved in thyroid cancer improves the sensitivity of thyroid FNA diagnosis.
- Subjects :
- Thyroid nodules
Neuroblastoma RAS viral oncogene homolog
Adult
Male
Pathology
medicine.medical_specialty
Histology
Biopsy, Fine-Needle
DNA Mutational Analysis
medicine.disease_cause
Pathology and Forensic Medicine
medicine
Humans
Thyroid Nodule
skin and connective tissue diseases
neoplasms
Thyroid cancer
Retrospective Studies
business.industry
Thyroid
Cancer
High-Throughput Nucleotide Sequencing
Nodule (medicine)
General Medicine
Sequence Analysis, DNA
Middle Aged
medicine.disease
body regions
surgical procedures, operative
medicine.anatomical_structure
Female
KRAS
Radiology
medicine.symptom
business
Indeterminate
Subjects
Details
- ISSN :
- 13652559
- Volume :
- 66
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Histopathology
- Accession number :
- edsair.doi.dedup.....ba34a61c2addf9dcde9928eb6fdff8fb