Tumor mutation burden-assisted risk stratification for papillary thyroid cancer

Area of Science:

• Oncology
• Genomics
• Molecular Biology

Background:

• Papillary thyroid cancer (PTC) has a low mortality rate but a high recurrence rate.
• Predicting PTC recurrence is crucial for effective patient management.

Purpose of the Study:

• To develop a molecular signature for predicting PTC recurrence.
• To investigate the role of tumor mutation burden (TMB) and specific gene mutations in PTC recurrence.

Main Methods:

• Utilized The Cancer Genome Atlas (TCGA) database with 333 PTC patients.
• Calculated tumor mutation burden (TMB) and analyzed BRAF and TERT promoter mutation status.

Main Results:

• High TMB (TMB-H) was associated with a 3.55-fold increased risk of recurrence compared to low TMB (TMB-L).
• TMB-H patients with BRAF V600E and/or TERT promoter mutations exhibited a 6.68-fold higher recurrence risk.
• Classical clinicopathologic factors significantly impacted recurrence in TMB-H patients but not in TMB-L patients.

Conclusions:

• BRAF V600E and/or TERT promoter mutations in TMB-H patients indicate a high risk of PTC recurrence.
• This molecular signature serves as a powerful prognostic tool for identifying high-risk PTC patients.