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An Ex vivo Culture System to Study Thyroid Development
Published on: June 6, 2014
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Molecular analysis of residual ThinPrep material from thyroid FNAs increases diagnostic sensitivity
Jeffrey F Krane1, Edmund S Cibas1, Erik K Alexander2
1Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Cancer Cytopathology
|May 1, 2015
Summary
Molecular testing of thyroid fine-needle aspiration (FNA) samples can identify genetic mutations. BRAF mutations are strongly linked to malignancy, aiding in diagnosis, but other genetic drivers need further investigation.
Area of Science:
- Oncology
- Molecular Diagnostics
- Cytopathology
Background:
- Molecular testing of thyroid fine-needle aspiration (FNA) samples offers a potential triage strategy for indeterminate cytology.
- Liquid-based FNA material is suitable for RNA extraction and analysis of genetic alterations.
Purpose of the Study:
- To analyze residual thyroid FNA samples for common point mutations and rearrangements.
- To correlate molecular findings with cytopathology and surgical follow-up.
Main Methods:
- Thyroid FNAs were classified using The Bethesda System for Reporting Thyroid Cytopathology.
- Residual samples underwent molecular analysis for BRAF, RAS, RET/PTC, and PAX8/PPARγ alterations.
- Molecular results were correlated with subsequent surgical follow-up.
Main Results:
- Adequate molecular results were obtained in 67% of 597 cases.
- Mutations or rearrangements were found in 21% of indeterminate specimens.
- BRAF mutations were primarily detected in malignant (52%) and suspicious for malignancy (15%) cytologic categories.
Conclusions:
- Molecular analysis of residual ThinPrep FNA material is feasible without additional procedures.
- BRAF mutations are predominantly found in malignant or suspicious thyroid FNA cases.
- Further research is needed to identify genetic drivers in other aggressive thyroid cancers.

