Abstract：
Papillary thyroid carcinoma (PTC) is the most common thyroid cancer, posing a growing clinical challenge. PTC exhibits two age-related peaks, with established risk factors including family history and radiation exposure. Managing even low-risk, localized PTC cases remain complex, with growing interest in active surveillance as an alternative to immediate surgery. This study employed single-cell RNA sequencing (scRNA-Seq) to explore the predictive value of BRAF and RAS mutations in PTC, shedding light on their impact on disease progression and outcomes. The analyses emphasized the significance of BRAF and RAS mutations in tumor advancement, particularly the unique BRAF V600E mutation associated with aggressive features. The methodology involved scRNA-Seq analysis of PTC and normal samples, unveiling distinct cell clusters and indicating upregulated BRAF and RAS genes. Pathway enrichment analysis highlighted altered biological processes and immune-related pathways in PTC. The study consolidated previous research showing the prevalence of BRAF and RAS mutations in PTC, subtypes with distinct molecular profiles, and the impact of TERT promoter mutations on disease severity. In summary, this study unveils the complex interplay of genetic mutations and the cellular microenvironment in PTC through scRNA-Seq. The upregulated BRAF and RAS genes suggest their roles as PTC drivers, and pathway enrichment reveals alterations in immune-related processes. This synthesis of prior research enhances our understanding of PTC\'s molecular foundations, informing better prognosis and personalized treatment approaches. These insights advance the landscape of PTC management and provide directions for further research.
摘要：
甲状腺乳头状癌（PTC）是最常见的甲状腺癌，构成了越来越大的临床挑战。PTC表现出两个与年龄相关的峰值，已确定的危险因素包括家族史和辐射暴露。管理即使是低风险的，局部PTC病例仍然很复杂，人们对主动监测作为即时手术的替代方案越来越感兴趣。本研究采用单细胞RNA测序（scRNA-Seq）来探讨BRAF和RAS突变在PTC中的预测价值。阐明它们对疾病进展和结果的影响。分析强调了BRAF和RAS突变在肿瘤进展中的意义。特别是与侵袭性特征相关的独特BRAFV600E突变。该方法涉及PTC和正常样本的scRNA-Seq分析，揭示不同的细胞簇，并表明上调的BRAF和RAS基因。途径富集分析强调了PTC中改变的生物过程和免疫相关途径。该研究巩固了先前的研究，表明PTC中BRAF和RAS突变的患病率，具有不同分子特征的亚型，以及TERT启动子突变对疾病严重程度的影响。总之,本研究通过scRNA-Seq揭示了PTC中基因突变和细胞微环境的复杂相互作用。上调的BRAF和RAS基因表明了它们作为PTC驱动因子的作用，和途径富集揭示了免疫相关过程的改变。这种先前研究的综合增强了我们对PTC分子基础的理解，告知更好的预后和个性化的治疗方法。这些见解推动了PTC管理的发展，并为进一步的研究提供了方向。
