Although the incidence of each type of rare tumor is extremely low, the cumulative patient population is large due to the wide variety of such tumors. The diagnosis and treatment of rare tumors in China are currently faced with numerous challenges, such as diagnostic difficulties and limited therapeutic options: traditional histopathological diagnosis has certain limitations, and most treatment regimens still rely on conventional approaches including surgery, radiotherapy and chemotherapy. With the advancement of molecular diagnostic technologies and precision medicine, especially the application of next-generation sequencing, liquid biopsy and artificial intelligence technologies, the diagnostic accuracy of rare tumors has been significantly improved. Meanwhile, innovative therapies such as bispecific antibodies, antibody-drug conjugates, and gene and cell therapies have brought new hope for patients. In the future, China needs to establish a hierarchical diagnosis and treatment network for rare tumors, strengthen drug development and clinical trial exploration, improve relevant medical insurance policies, and build a prevention, diagnosis and treatment system with Chinese characteristics for rare tumors, so as to provide better diagnosis and treatment services for patients.