This review provides an overview of recent advances in the diagnosis and treatment of rare cancers. Rare cancers, defined as those with low incidence rates, pose significant challenges due to their infrequent occurrence and limited research. Despite these challenges, recent biomedical breakthroughs have led to significant progress in both diagnosis and treatment. The review highlights state-of-the-art diagnostic techniques, including next-generation sequencing, RNA-sequencing, and omics technologies, which have revolutionized rare cancer diagnosis. These techniques enable the identification of genetic mutations and molecular signatures, facilitating more accurate and early diagnosis. Additionally, the review discusses the latest innovations in rare cancer therapeutic options, such as immunotherapy, targeted therapy, transplantation, and drug combination therapy, which have undergone clinical trials and significantly contribute to tumor remission and overall survival. The review also summarizes recent breakthroughs in understanding rare cancer pathophysiology, diagnosis, and therapeutic modalities, as well as the challenges faced in the development of rare cancer diagnosis data interpretation and drug development. The integration of artificial intelligence and machine learning further enhances the analysis of rare cancer data, leading to more precise diagnoses and personalized treatment strategies. Overall, the review emphasizes the importance of continued research and technological advancements in improving the diagnosis and treatment of rare cancers.This review provides an overview of recent advances in the diagnosis and treatment of rare cancers. Rare cancers, defined as those with low incidence rates, pose significant challenges due to their infrequent occurrence and limited research. Despite these challenges, recent biomedical breakthroughs have led to significant progress in both diagnosis and treatment. The review highlights state-of-the-art diagnostic techniques, including next-generation sequencing, RNA-sequencing, and omics technologies, which have revolutionized rare cancer diagnosis. These techniques enable the identification of genetic mutations and molecular signatures, facilitating more accurate and early diagnosis. Additionally, the review discusses the latest innovations in rare cancer therapeutic options, such as immunotherapy, targeted therapy, transplantation, and drug combination therapy, which have undergone clinical trials and significantly contribute to tumor remission and overall survival. The review also summarizes recent breakthroughs in understanding rare cancer pathophysiology, diagnosis, and therapeutic modalities, as well as the challenges faced in the development of rare cancer diagnosis data interpretation and drug development. The integration of artificial intelligence and machine learning further enhances the analysis of rare cancer data, leading to more precise diagnoses and personalized treatment strategies. Overall, the review emphasizes the importance of continued research and technological advancements in improving the diagnosis and treatment of rare cancers.