This review provides a comprehensive overview of advancements in the diagnosis and treatment of rare cancers, which are defined as cancers with an incidence rate of fewer than 15 cases per 100,000 individuals annually. The authors highlight the challenges in diagnosing and treating rare cancers due to their low incidence, but also discuss the significant progress made in recent years. Key advancements in diagnostic techniques include new-generation sequencing, RNA-sequencing, and multi-omics approaches, which have been integrated with artificial intelligence and machine learning to enhance accuracy and precision. In terms of therapeutic options, the review covers immunotherapy, targeted therapy, transplantation, and drug combination therapy, detailing their clinical trials and contributions to tumor remission and overall survival. The review also addresses the challenges in data interpretation and drug development for rare cancers, emphasizing the need for further research and collaboration to improve diagnostic and treatment outcomes.This review provides a comprehensive overview of advancements in the diagnosis and treatment of rare cancers, which are defined as cancers with an incidence rate of fewer than 15 cases per 100,000 individuals annually. The authors highlight the challenges in diagnosing and treating rare cancers due to their low incidence, but also discuss the significant progress made in recent years. Key advancements in diagnostic techniques include new-generation sequencing, RNA-sequencing, and multi-omics approaches, which have been integrated with artificial intelligence and machine learning to enhance accuracy and precision. In terms of therapeutic options, the review covers immunotherapy, targeted therapy, transplantation, and drug combination therapy, detailing their clinical trials and contributions to tumor remission and overall survival. The review also addresses the challenges in data interpretation and drug development for rare cancers, emphasizing the need for further research and collaboration to improve diagnostic and treatment outcomes.