Incidence of V600E mutation in patients with papillary thyroid carcinoma: a single-institution experience.

Objective: Papillary thyroid carcinoma (PTC) accounts for 95% of all thyroid carcinomas. PTC is an epithelial tumor characterized by the proliferation of follicular cells with distinctive nuclear features, and is heterogeneous in terms of its carcinogenesis and behavior. PTC has been associated with several genetic abnormalities, of which the V600E mutation is the most common. However, reported incidences of this mutation have varied depending on the patient background, population size, or methods. In this study, we investigated the incidence of V600E mutation and its relationships with clinicopathological characteristics in patients with PTC.

Methods: Surgical specimens were obtained from 40 patients with PTC who underwent surgery at Nippon Medical School Hospital between 2009 and 2017. DNA from exon 15 of the gene was extracted and amplified by polymerase chain reaction, followed by direct sequencing.

Results: The frequency of V600E mutation increased with age. However, there were no correlations between V600E mutation and other clinicopathological features including sex, Hashimoto disease, family history of thyroid disease, tumor size, pathological T stage, pathological N stage, lymphovascular invasion, extrathyroidal extension, and metastasis.

Conclusions: This study demonstrated that PTCs harboring the V600E mutation increased in an age-dependent manner.