The risk of mortality is higher for patients with papillary thyroid cancer who harbor both BRAF V600E and TERT promoter mutations, compared with those who have only 1 mutation or a wild-type genotype for both genes, according to a study published in JAMA Oncology.1

Although BRAF V600E and TERT promoter mutations have been implicated in the aggressiveness of papillary thyroid cancer, the prognostic value of this genetic duet in cancer-related mortality remains unclear. Researchers evaluated the relationship between mutation patterns and patient deaths caused by papillary thyroid cancer for 1051 patients. The median follow-up time was 89 months.

Four of the 629 patients (0.6%) with neither mutation died of papillary thyroid cancer, compared with 7 of 292 (2.4%) with a BRAF V600E mutation alone, 4 of 64 (6.3%) with a TERT promoter mutation alone, and 15 of 66 (22.7%) with the genetic duet.

Compared with patients with neither mutation, those with a BRAF V600E alone had more than a 3-fold higher risk of cancer-specific death (hazard ratio [HR], 3.08; 95% CI, 0.87-10.84). Patients with a TERT promoter mutation alone had an 8-fold higher risk (HR, 8.18; 95% CI, 2.04-32.75).

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Patients with both mutations had a nearly 38-fold higher risk of papillary thyroid cancer-specific mortality versus those with neither mutation (HR, 37.77; 95% CI, 12.50-114.09.              

Reference

  1. Liu R, Bishop J, Zhu G, Zhang T, Ladenson PW, Xing M. Mortality risk stratification by combining BRAF V600E and TERT promoter mutations in papillary thyroid cancer. JAMA Oncol. 2016 Sept 1. doi: 10.1001/jamaoncol.2016.3288 [Epub ahead of print]