Papillary Thyroid Carcinoma: Correlation Between Molecular and Clinical Features

作者：Qiang Wang, Bo Yu, Shuilong Zhang, Dongliang Wang, Zhifu Xiao, Hongjing Meng, Lingxiang Dong, Yuhang Zhang, Jie Wu, Zebin Hou, Yunji Zhu, Dewei Li · 发表于：Molecular Diagnosis & Therapy · 年份：2024 · DOI：10.1007/s40291-024-00721-1 · 被引用次数：6 · 研究领域：Thyroid Cancer Diagnosis and Treatment、Thyroid Disorders and Treatments、Thyroid and Parathyroid Surgery

Thyroid cancer is prevalent worldwide, including in China, where its incidence is on the rise. Papillary thyroid carcinoma (PTC) is the predominant subtype. Investigating the relationship between clinical data associated with PTC and gene mutations is crucial for improving detection and treatment. We collected samples and associated clinical data from 700 PTC patients at Shanxi Provincial People’s Hospital. Using a panel of 57 genes linked to thyroid cancer, we sequenced the samples to determine the mutation frequency of thyroid cancer-associated genes in PTC. We further analyzed the correlation between gene variants and clinical information. The mean age of patients in this study was 42.5 years. Females predominated, comprising 507 of the total patient population, resulting in a female-to-male ratio of 2.63 (507:193). Tumor distribution revealed 198, 257, and 142 cases on the left, right, and both sides, respectively. Among the 57 thyroid cancer-related genes analyzed, we identified at least one driver gene in 83.6% of patients. Notably, 76.4% had BRAF mutations, mainly BRAF V600E , which constituted 90.9% of all BRAF mutations, with 535 cases exhibiting these mutations. Other significant driver genes included CHEK2 ( n = 84), RET ( n = 42), PIK3CA ( n = 7), and EGFR ( n = 7). RET fusions ( n = 28) were also identified. Notably, patients under 55 years old exhibit a higher tendency towards advanced N staging, suggesting that younger individuals may be more prone to lymph nod...