# Papillary Thyroid Carcinoma With 5 Unique Point Mutations and Typical Behavior

## TL;DR

A patient with papillary thyroid cancer had five rare genetic mutations, but the cancer behaved in a typical, non-aggressive way.

## Contribution

The paper reports the highest number of unique pathogenic mutations found in a single papillary thyroid carcinoma case to date.

## Key findings

- Five unique single nucleotide variants were identified in a papillary thyroid carcinoma tumor.
- The tumor exhibited typical non-aggressive behavior despite multiple mutations.
- The mutations found were not previously reported in The Cancer Genome Atlas PTC study.

## Abstract

The frequency and impact of multiple driver mutations have not been extensively explored in papillary thyroid carcinoma (PTC), in which driver mutations are most commonly solitary. We present a case of a 62-year-old female who was found to have a 2.6-cm classical, nonaggressive-appearing PTC. A next-generation sequencing panel assessed the tumor for mutations. Five unique single nucleotide sequence variants, none of which was seen in The Cancer Genome Atlas study on PTC, were found: BRAF D594N, NRAS Q61H, PIK3CA G1007R, PTEN R335*, and PTEN Y225*. We believe that 5 pathogenic variants are the highest reported number for a primary PTC resection specimen to date. The observed typical PTC behavior may be due to a weaker strength of the individual pathogenic variants to drive oncogenic processes. In this case, the high number of genetic alterations did not translate into aggressive histopathology or clinical course.