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BRAF mutation linked to recurrence in differentiated thyroid cancer
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CORONADO, Calif. — The incidence of the BRAF V600E mutation, in the absence of other somatic mutations, was significantly associated with locoregional recurrence among patients with differentiated thyroid cancers, according to study results presented at the American Thyroid Association Annual Meeting.
In addition, telomerase reverse-transcriptase (TERT) promoter mutations were frequently detected in advanced differentiated thyroid cancers, especially in disease associated with distant metastasis.
Prior studies have identified TERT promoter C228T and C250T and BRAF V600E mutations in clinically aggressive thyroid cancers of follicular origin.
To assess mutation incidence in differentiated thyroid cancers and evaluate whether pattern of disease was linked to mutation profile, Linwah Yip, MD, assistant professor of surgery in the division of endocrine surgery at the University of Pittsburgh, and colleagues used a polymerase chain reaction assay to sequence 43 differentiated thyroid cancers that were associated with distant metastasis and/or locoregional recurrence.
The sequenced cancers included 41 papillary thyroid carcinomas, one follicular thyroid carcinoma and one Hürthle cell carcinoma, with the presence of distant metastasis or locoregional recurrence confirmed histologically.
The mean age at initial diagnosis was 53 years.
The researchers observed that among patients with locoregional recurrence only (n=16), mean time to recurrence was 40.8 months (range, 8-140). Mean follow-up was equivalent in patients with distant metastasis or locoregional recurrence only (9.1 years vs. 7.2 years; P=.3).
Yip and colleagues identified TERT promoter mutations in 19 differentiated thyroid cancers (44%) and observed that mutations were more common in patients aged at least 45 years (49% vs. 17%; P=.02), as well as patients with distant metastases (63%).
BRAF V600E was identified in 18 differentiated thyroid cancers (42%), and the incidence was not dependent on patient age (P=.2).
In addition, the researchers observed a coexistent TERT promoter mutation in half of the BRAF V600E-positive differentiated thyroid cancers, 100% of which exhibited distant metastases. Among patients in the remaining half of differentiated thyroid cancers with isolated BRAF V600E, eight patients exhibited locoregional recurrence only.
For more information:
Yip L. Poster #88. Presented at: American Thyroid Association Annual Meeting; Oct. 29-Nov. 2, 2014; Coronado, Calif.
Disclosure: The researchers reported no relevant financial disclosures.