Papillary Thyroid Carcinoma in a Patient With a Germline Titin (TTN) Mutation

TL;DR

A patient with a germline TTN mutation, known for heart issues, was diagnosed with papillary thyroid cancer after thyrotoxicosis.

Contribution

This case highlights a potential link between germline TTN mutations and thyroid cancer.

Findings

A patient with a germline TTN mutation developed papillary thyroid carcinoma.

The patient's cancer diagnosis followed amiodarone-induced thyrotoxicosis.

The case suggests a possible connection between TTN mutations and oncologic processes.

Abstract

The titin (TTN) gene encodes the largest known human protein and is essential in maintaining cardiac sarcomere structure. Germline TTN mutations are strongly linked to dilated cardiomyopathy and arrhythmias, and emerging evidence suggests a possible relationship between TTN alterations and oncologic processes. Owing to the large size of the TTN gene, recurrent mutations are frequently observed across cancer datasets, but the clinical and biological significance of these alterations, particularly in the germline setting, remains incompletely understood. This case presents a patient with a germline TTN mutation who was diagnosed with papillary thyroid carcinoma after he developed amiodarone-induced thyrotoxicosis.

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