We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Highly Sensitive and Specific Molecular Test for Mutations in the Diagnosis of Thyroid Nodules: A Prospective Study of BRAF-Prevalent Population.
- Authors
Cho, Yoon Young; Park, So Young; Shin, Jung Hee; Oh, Young Lyun; Choe, Jun-Ho; Kim, Jung-Han; Kim, Jee Soo; Yim, Hyun Sook; Kim, Yoo-Li; Ki, Chang-Seok; Kim, Tae Hyuk; Chung, Jae Hoon; Kim, Sun Wook
- Abstract
Molecular testing offers more objective information in the diagnosis and personalized decision making for thyroid nodules. In Korea, as the BRAF V600E mutation is detected in 70–80% of thyroid cancer specimens, its testing in fine-needle aspiration (FNA) cytology specimens alone has been used for the differential diagnosis of thyroid nodules until now. Thus, we aimed to develop a mutation panel to detect not only BRAF V600E, but also other common genetic alterations in thyroid cancer and to evaluate the diagnostic accuracy of the mutation panel for thyroid nodules in Korea. For this prospective study, FNA specimens of 430 nodules were obtained from patients who underwent thyroid surgery for thyroid nodules. A molecular test was devised using real-time PCR to detect common genetic alterations in thyroid cancer, including BRAF, N-, H-, and K-RAS mutations and rearrangements of RET/PTC and PAX8/PPARr. Positive results for the mutation panel were confirmed by sequencing. Among the 430 FNA specimens, genetic alterations were detected in 293 cases (68%). BRAF V600E (240 of 347 cases, 69%) was the most prevalent mutation in thyroid cancer. The RAS mutation was most prevalently detected for indeterminate cytology. Among the 293 mutation-positive cases, 287 (98%) were diagnosed as cancer. The combination of molecular testing and cytology improved sensitivity from 72% (cytology alone) to 89% (combination), with a specificity of 93%. We verified the excellent diagnostic performance of the mutation panel applicable for clinical practice in Korea. A plan has been devised to validate its performance using independent FNA specimens.
- Subjects
SOUTH Korea; THYROID nodules; LONGITUDINAL method; THYROID cancer; BRAF genes; DIAGNOSIS; THYROID gland
- Publication
International Journal of Molecular Sciences, 2020, Vol 21, Issue 16, p5629
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms21165629