Genetic alterations and allele frequency of BRAF V600E and TERT mutation in papillary thyroid carcinoma with intermediate-to-high recurrence risk: a retrospective study

AbstractThe predictive value of allele frequency (AF) ofBRAF V600E andTERT mutations in papillary thyroid carcinoma (PTC) remains controversial. We aimed to investigate theAF ofBRAF V600E andTERT mutations in intermediate-to-high risk PTC and their association between tumor invasiveness, prognosis, and other mutations. Probe hybridization capture and high-throughput sequencing were used to quantitatively test 40 gene loci in 94 intermediate-to-high recurrence risk PTC patients, combined with clinical characteristics and follow-up for retrospective analysis.BRAF V600E mutationAF was linked to a increased risk of thyroid capsule penetration, recurrence, and concurrent mutations. Concurrent mutations could lead to a worse prognosis and increased invasiveness.TERT promoter mutation frequently accompanied other mutations and resulted in a poorer prognosis. However, there was no clear association between theTERT mutationAF and tumor invasiveness or recurrence. The sensitivity and specificity of predicting recurrence in intermediate-to-high risk PTC withBRAF V600E mutationAF >  28.2% were 60 and 80%. Although genetic alterations in PTC can differ among different ethnicities, theAF ofBRAF V600E andTERT mutations may be similar. TheAF ofBRAF V600E has the potential to be a novel indicator in predicting PTC invasiveness and prognosis.
Source: Clinical and Experimental Medicine - Category: Research Source Type: research