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研究临床和遗传因素对鼻窦鳞状细胞癌术后预后的影响。

Investigating the impact of clinical and genetic factors on the post-surgery prognosis of sinonasal squamous cell carcinoma.

机构信息

Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.

School of Systems Biology, George Mason University, Manassas, VA, 20110, USA.

出版信息

Sci Rep. 2024 Sep 27;14(1):22167. doi: 10.1038/s41598-024-73157-6.

Abstract

Sinonasal squamous cell carcinoma (SNSCC) is an aggressive cancer affecting the nasal and sinus regions, with its progression factors, particularly genetic ones, not yet fully understood. Here, we first conducted a retrospective study with 219 SNSCC patients to identify clinical factors affecting SNSCC prognosis. Additionally, we mined a vast literature dataset to uncover genetic factors associated with SNSCC progression. Based on this data, we constructed SNSCC prognosis pathways and performed a gene set enrichment analysis (GSEA). Clear operative margins were linked to a 73.5-86.3% improvement in overall survival and a 73.5-88.9% lower risk of recurrence. Nasal cavity-originated cases exhibited a 67.6-97.4% decrease in mortality and an 80.7-96.7% lower recurrence rate. Patients at T1-2 staging had a 65.0-80.6% reduced risk of death and recurrence compared to those at T3 stage. Additionally, we identified 53 genes associated with SNSCC, with 14 also implicated in primary tumor site, T stage, and operative margin. These genes, including EGFR, PIK3CA, ERBB2, PTEN, BCL2, BRAF, KRAS, and PRL, form a complex SNSCC-prognosis pathway and were significantly enriched in 42 KEGG pathways and Gene Ontology (GO) terms (FDR-corrected p-value < 0.001), influencing cell growth, apoptosis, and oncogenic signaling pathways. Our study suggests that three clinical parameters (operative margin type, primary tumor site, and T-stage) and 14 genetic factors may influence SNSCC prognosis post-surgery. These findings deepen our understanding of SNSCC and offer potential avenues to enhance its treatment and outcomes.

摘要

鼻窦鳞状细胞癌(SNSCC)是一种侵袭性癌症,影响鼻腔和鼻窦区域,其进展因素,特别是遗传因素,尚未完全了解。在这里,我们首先对 219 例 SNSCC 患者进行了回顾性研究,以确定影响 SNSCC 预后的临床因素。此外,我们挖掘了大量的文献数据集,以发现与 SNSCC 进展相关的遗传因素。基于这些数据,我们构建了 SNSCC 预后途径,并进行了基因集富集分析(GSEA)。明确的手术切缘与总生存率提高 73.5-86.3%和复发风险降低 73.5-88.9%相关。鼻腔起源的病例死亡率降低 67.6-97.4%,复发率降低 80.7-96.7%。与 T3 期相比,T1-2 期分期的患者死亡和复发风险降低 65.0-80.6%。此外,我们确定了 53 个与 SNSCC 相关的基因,其中 14 个基因也与原发肿瘤部位、T 分期和手术切缘有关。这些基因,包括 EGFR、PIK3CA、ERBB2、PTEN、BCL2、BRAF、KRAS 和 PRL,形成了一个复杂的 SNSCC 预后途径,在 42 个 KEGG 途径和基因本体论(GO)术语中显著富集(校正 FDR 后的 p 值 < 0.001),影响细胞生长、凋亡和致癌信号通路。我们的研究表明,三个临床参数(手术切缘类型、原发肿瘤部位和 T 分期)和 14 个遗传因素可能影响手术后 SNSCC 的预后。这些发现加深了我们对 SNSCC 的理解,并为提高其治疗和结果提供了潜在途径。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b30f/11436826/aad71a965712/41598_2024_73157_Fig1_HTML.jpg

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