论文标题：Rare tumors: a blue ocean of investigation

期刊： Frontiers of Medicine

作者：Shuhang Wang, Peiwen Ma, Ning Jiang, Yale Jiang, Yue Yu, Yuan Fang, Huilei Miao, Huiyao Huang, Qiyu Tang, Dandan Cui, Hong Fang, Huishan Zhang, Qi Fan, Yuning Wang, Gang Liu, Zicheng Yu, Qi Lei, Ning Li

发表时间：15 Apr 2023

DOI：10.1007/s11684-023-0984-z

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导 读

中国医学科学院北京协和医学院李宁博士团队在Frontiers of Medicine发表综述论文《罕见肿瘤：探索的蓝海》（Rare tumors: a blue ocean of investigation）。本文通过回顾中国实体肿瘤流行病学数据及其他地区罕见肿瘤相关文献，提出了中国罕见肿瘤的定义，同时梳理了罕见肿瘤的诊疗与临床试验现状，为推动罕见肿瘤研究与治疗指明了方向。

Advances in novel drugs, therapies, and genetic techniques have revolutionized the diagnosis and treatment of cancers, substantially improving cancer patients’ prognosis. Although rare tumors account for a non-negligible number, the practice of precision medicine and development of novel therapies are largely hampered by many obstacles. Their low incidence and drastic regional disparities result in the difficulty of informative evidence-based diagnosis and subtyping. Sample exhaustion due to difficulty in diagnosis also leads to a lack of recommended therapeutic strategies in clinical guidelines, insufficient biomarkers for prognosis/efficacy, and inability to identify potential novel therapies in clinical trials. Herein, by reviewing the epidemiological data of Chinese solid tumors and publications defining rare tumors in other areas, we proposed a definition of rare tumor in China, including 515 tumor types with incidences of less than 2.5/100 000 per year. We also summarized the current diagnosis process, treatment recommendations, and global developmental progress of targeted drugs and immunotherapy agents on the status quo. Lastly, we pinpointed the current recommendation chance for patients with rare tumors to be involved in a clinical trial by NCCN. With this informative report, we aimed to raise awareness on the importance of rare tumor investigations and guarantee a bright future for rare tumor patients.

新型药物、治疗方法及基因技术的发展彻底改变了癌症的诊断与治疗模式，显著改善了癌症患者的预后情况。罕见肿瘤在肿瘤疾病领域中占据着不容忽视的地位，然而精准医学在临床实践中的推进以及新型治疗方法的研发，却在很大程度上受到诸多复杂因素的阻碍。罕见肿瘤的低发病率及显著的地区差异，导致难以开展有充分依据的循证诊断和分型。由于诊断困难致使样本量不足，进而造成临床指南中缺乏推荐的治疗策略，判断预后和疗效的生物标志物匮乏，并且在临床试验中难以确定潜在的新型疗法。本研究通过回顾中国实体肿瘤的流行病学数据及其他地区对罕见肿瘤定义的相关文献，提出了中国罕见肿瘤的定义，涵盖515种每年发病率低于十万分之二点五的肿瘤类型。文章还总结了当前的诊断流程、治疗建议以及全球靶向药物和免疫治疗药物的发展现状。最后，文章明确了美国国家综合癌症网络（NCCN）目前对罕见肿瘤患者参与临床试验的推荐几率。通过这份详实的报告，本文旨在提高人们对罕见肿瘤研究重要性的认识，为罕见肿瘤患者带来光明的未来。

期刊介绍

Frontiers of Medicine专注于发表临床医学和基础医学领域的最新研究成果，旨在通过全球医疗专业人员之间的交流促进健康和医疗保健的发展。该刊采用严格的同行评审和编辑流程，确保发表的文章的科学准确性、新颖性和重要性。

原文信息

标题

Rare tumors: a blue ocean of investigation

作者

Shuhang Wang¹, Peiwen Ma¹, Ning Jiang¹, Yale Jiang¹, Yue Yu¹, Yuan Fang¹, Huilei Miao¹, Huiyao Huang², Qiyu Tang¹, Dandan Cui¹, Hong Fang¹, Huishan Zhang², Qi Fan¹, Yuning Wang¹, Gang Liu³, Zicheng Yu⁴, Qi Lei¹, Ning Li¹

机构

1. Clinical Trial Center, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China

2. Phase I Clinical Trial Center, Fujian Medical University Cancer Hospital/Fujian Cancer Hospital, Fuzhou 350014, China

3. Key Laboratory of Molecular Epigenetics of the Ministry of Education, Northeast Normal University, Changchun 130024, China

4. GenePlus-Shenzhen, Shenzhen 518118, China

通讯作者

Ning Li

引用这篇文章

Shuhang Wang, Peiwen Ma, Ning Jiang, Yale Jiang, Yue Yu, Yuan Fang, Huilei Miao, Huiyao Huang, Qiyu Tang, Dandan Cui, Hong Fang, Huishan Zhang, Qi Fan, Yuning Wang, Gang Liu, Zicheng Yu, Qi Lei, Ning Li. Rare tumors: a blue ocean of investigation. Front. Med., 2023, 17(2): 220–230

https://doi.org/10.1007/s11684-023-0984-z

https://journal.hep.com.cn/fmd/EN/10.1007/s11684-023-0984-z

https://link.springer.com/article/10.1007/s11684-023-0984-z

感谢作者对Frontiers of Medicine的信任和支持。

《前沿》系列英文学术期刊

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