评估甲状腺乳头状癌患者BRAF和RAS突变预后影响的计算方法。

IF 3.7 3区 医学 Q2 Medicine Endocrine Pub Date : 2024-11-01 Epub Date: 2024-06-17 DOI:10.1007/s12020-024-03911-3
Tahereh Haghzad, Babak Khorsand, S Adeleh Razavi, Mehdi Hedayati
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引用次数: 0

摘要

甲状腺乳头状癌(PTC)是最常见的甲状腺癌,其临床挑战日益严峻。PTC呈现两个与年龄相关的高峰,既定的风险因素包括家族史和辐射暴露。即使是低风险、局部性的PTC病例,治疗起来也很复杂,人们越来越关注积极监测,以替代立即手术。本研究采用单细胞 RNA 测序(scRNA-Seq)技术探讨了 PTC 中 BRAF 和 RAS 基因突变的预测价值,揭示了它们对疾病进展和预后的影响。分析强调了BRAF和RAS突变在肿瘤进展中的重要性,尤其是与侵袭性特征相关的独特BRAF V600E突变。分析方法包括对 PTC 和正常样本进行 scRNA-Seq 分析,揭示了不同的细胞群,并指出了上调的 BRAF 和 RAS 基因。通路富集分析强调了 PTC 中改变的生物过程和免疫相关通路。该研究巩固了之前的研究,这些研究显示了 BRAF 和 RAS 基因突变在 PTC 中的普遍性、具有不同分子特征的亚型以及 TERT 启动子突变对疾病严重性的影响。总之,这项研究通过scRNA-Seq揭示了PTC中基因突变与细胞微环境之间复杂的相互作用。BRAF和RAS基因的上调表明了它们作为PTC驱动因子的作用,而通路富集则揭示了免疫相关过程的改变。这项综合先前研究的成果增强了我们对 PTC 分子基础的了解,为更好的预后和个性化治疗方法提供了依据。这些见解推进了 PTC 的管理,并为进一步的研究提供了方向。
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A computational approach to assessing the prognostic implications of BRAF and RAS mutations in patients with papillary thyroid carcinoma.

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.

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来源期刊
Endocrine
Endocrine 医学-内分泌学与代谢
CiteScore
6.40
自引率
5.40%
发文量
0
期刊介绍: Well-established as a major journal in today’s rapidly advancing experimental and clinical research areas, Endocrine publishes original articles devoted to basic (including molecular, cellular and physiological studies), translational and clinical research in all the different fields of endocrinology and metabolism. Articles will be accepted based on peer-reviews, priority, and editorial decision. Invited reviews, mini-reviews and viewpoints on relevant pathophysiological and clinical topics, as well as Editorials on articles appearing in the Journal, are published. Unsolicited Editorials will be evaluated by the editorial team. Outcomes of scientific meetings, as well as guidelines and position statements, may be submitted. The Journal also considers special feature articles in the field of endocrine genetics and epigenetics, as well as articles devoted to novel methods and techniques in endocrinology. Endocrine covers controversial, clinical endocrine issues. Meta-analyses on endocrine and metabolic topics are also accepted. Descriptions of single clinical cases and/or small patients studies are not published unless of exceptional interest. However, reports of novel imaging studies and endocrine side effects in single patients may be considered. Research letters and letters to the editor related or unrelated to recently published articles can be submitted. Endocrine covers leading topics in endocrinology such as neuroendocrinology, pituitary and hypothalamic peptides, thyroid physiological and clinical aspects, bone and mineral metabolism and osteoporosis, obesity, lipid and energy metabolism and food intake control, insulin, Type 1 and Type 2 diabetes, hormones of male and female reproduction, adrenal diseases pediatric and geriatric endocrinology, endocrine hypertension and endocrine oncology.
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