# Novel Mutation Associated With Papillary Thyroid Cancer

## TL;DR

A new FAT1 gene mutation is found in a case of papillary thyroid cancer, suggesting a potential new genetic link to this type of cancer.

## Contribution

This is the first reported case linking FAT1 mutation to papillary thyroid cancer.

## Key findings

- A FAT1p.V912I mutation was identified in a patient with papillary thyroid cancer.
- The patient had three foci of papillary thyroid cancer confirmed by histopathology.
- FAT1 mutations were previously linked to head and neck cancer but not thyroid cancer.

## Abstract

The widespread adoption of molecular testing for cytologically indeterminate thyroid nodules has revealed mutations not previously described in thyroid cancer. The current study reports a novel case of papillary thyroid cancer with a FAT1 mutation.

A 47-year-old female presented with a palpable thyroid nodule. Ultrasound revealed a dominant left mid 1.3 cm TI-RADS 4 thyroid nodule. Fine needle aspiration revealed atypia of undetermined significance (Bethesda III); molecular testing with Afirma Genomic Sequencing Classifier was suspicious and identified a FAT1p.V912I c.2734G>A mutation. The patient underwent left thyroid lobectomy. Histopathology revealed papillary thyroid cancer in the index nodule, as well as 2 other foci of papillary thyroid cancer.

FAT1 mutation has been previously associated with head and neck squamous cell carcinoma but has not been reported in the context of papillary thyroid cancer.

FAT1 gene variation may be a novel mutation associated with papillary thyroid cancer.