Rare tumors: a blue ocean of investigation

Abstract

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.

Keywords

rare tumors / diagnosis flowchart / treatment strategy / clinical trials recommendation

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Acknowledgements

This work was supported by the Chinese Academy of Medical Sciences (No. 2019XK320068), Chinese Academy of Medical Sciences (No. 2020-I2M-2-007), Chinese Academy of Medical Sciences; Innovation Fund for Medical Sciences (Construction and Application of Clinical Trial and Institution Evaluation System 2021-I2M-1-045) and Beijing Municipal Commission of Health; Beijing Demonstration Research Ward BCRW20200303.

Electronic Supplementary Material

Supplementary material is available in the online version of this article at https://doi.org/10.1007/s11684-023-0984-z and is accessible for authorized users.

Compliance with ethics guidelines

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, and Ning Li declare that they have no conflict of interest. This manuscript is a review article and does not involve a research protocol requiring approval by the relevant institutional review board or ethics committee.

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