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基于单细胞测序对一名患有上颌窦NUT癌的13岁患者的分析。

A single-cell sequencing-based analysis of a 13-year-old with maxillary sinus NUT carcinoma.

作者信息

Ye Zhuomiao, Li Xin, Xie Fei, Sun Jie, Yang Dan, Deng Chao, Yin Mingzhu

机构信息

Clinical Research Center (CRC), Medical Pathology Center (MPC), Cancer Early Detection and Treatment Center (CEDTC) and Translational Medicine Research Center (TMRC), Chongqing University Three Gorges Hospital, Chongqing University, Wanzhou District, Chongqing 404100, China; Chongqing Technical Innovation Center for Quality Evaluation and Identification of Authentic Medicinal Herbs, Wanzhou District, Chongqing 404100, China; School of Medicine Chongqing University, Chongqing University, Shapingba District, Chongqing 400030, China.

Breast Center, Chongqing University Three Gorges Hospital, Chongqing University, Wanzhou, Chongqing, China.

出版信息

Oral Oncol. 2025 Mar;162:107185. doi: 10.1016/j.oraloncology.2025.107185. Epub 2025 Jan 24.

DOI:10.1016/j.oraloncology.2025.107185
PMID:39862476
Abstract

NUT carcinoma is a rare and highly aggressive malignancy, predominantly affecting adolescents and young adults. This tumor demonstrates rapid progression, resistance to conventional anti-cancer treatments, and an extremely poor prognosis. Currently, research on NUT carcinoma is limited, and effective treatment options remain scarce. In this study, we performed single-cell RNA sequencing (scRNA-seq) on tumor tissue from a 13-year-old patient with maxillary sinus NUT carcinoma. The analysis revealed significant heterogeneity among epithelial cells within the tumor microenvironment (TME). Immune cell infiltration was notably low, suggesting that the tumor represents a "cold" immune microenvironment. Subclustering of epithelial cells identified distinct subpopulations characterized by high proliferation, metabolic activity, TGF-Beta-driven invasiveness, and MYC-driven growth and protein secretion. These findings provide critical insights into the tumor's biology, growth mechanisms, and potential therapeutic vulnerabilities. This study highlights the importance of scRNA-seq in understanding the complexity of NUT carcinoma and underscores the need for personalized treatment approaches, including the potential application of BET inhibitors.

摘要

NUT癌是一种罕见且侵袭性极强的恶性肿瘤,主要影响青少年和青年。这种肿瘤进展迅速,对传统抗癌治疗具有抗性,预后极差。目前,关于NUT癌的研究有限,有效的治疗选择仍然稀缺。在本研究中,我们对一名13岁上颌窦NUT癌患者的肿瘤组织进行了单细胞RNA测序(scRNA-seq)。分析揭示了肿瘤微环境(TME)中上皮细胞之间存在显著的异质性。免疫细胞浸润明显较低,表明该肿瘤呈现出“冷”免疫微环境。上皮细胞的亚聚类确定了不同的亚群,其特征为高增殖、代谢活性、TGF-β驱动的侵袭性以及MYC驱动的生长和蛋白质分泌。这些发现为肿瘤的生物学特性、生长机制以及潜在的治疗弱点提供了关键见解。本研究突出了scRNA-seq在理解NUT癌复杂性方面的重要性,并强调了个性化治疗方法的必要性,包括BET抑制剂的潜在应用。

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