Papillary Thyroid Carcinoma: Correlation Between Molecular and Clinical Features.

Area of Science:

• Oncology
• Genetics
• Molecular Biology

Background:

• Papillary thyroid carcinoma (PTC) is the most common thyroid cancer subtype globally, with rising incidence in China.
• Understanding the genetic landscape and clinical correlations of PTC is vital for improved diagnosis and treatment strategies.

Purpose of the Study:

• To investigate the mutation frequency of thyroid cancer-associated genes in PTC patients.
• To analyze the correlation between gene variants and clinical data in PTC.

Main Methods:

• Genomic DNA sequencing of 57 thyroid cancer-related genes in 700 PTC patients.
• Analysis of mutation frequencies, including BRAF and RET alterations.
• Correlation analysis between gene mutations and clinical parameters such as age, sex, and tumor stage.

Main Results:

• Driver gene mutations were identified in 83.6% of patients, with BRAF mutations (predominantly BRAF^V600E) found in 76.4%.
• RET fusions were observed in 28 patients.
• Younger patients (<55 years) and male patients showed a higher tendency for advanced N staging (lymph node metastasis).
• Higher BRAF allele frequencies and RET fusions correlated with advanced T and N stages.

Conclusions:

• Younger PTC patients are more prone to lymph node metastasis.
• Elevated BRAF mutation frequency is associated with a higher occurrence of RET fusions, potentially indicating a poorer prognosis and increased metastasis risk.