Department of Integrated Biomedical Science, Soonchunhyang Institute of Medi-Bio Science (SIMS), Soonchunhyang University, Cheonan 31151, Chungcheongnam-do, Republic of Korea.
Int J Mol Sci. 2024 Jan 18;25(2):1201. doi: 10.3390/ijms25021201.
Cancer stands as the leading global cause of mortality, with rare cancer comprising 230 distinct subtypes characterized by infrequent incidence. Despite the inherent challenges in addressing the diagnosis and treatment of rare cancers due to their low occurrence rates, several biomedical breakthroughs have led to significant advancement in both areas. This review provides a comprehensive overview of state-of-the-art diagnostic techniques that encompass new-generation sequencing and multi-omics, coupled with the integration of artificial intelligence and machine learning, that have revolutionized rare cancer diagnosis. In addition, this review highlights the latest innovations in rare cancer therapeutic options, comprising immunotherapy, targeted therapy, transplantation, and drug combination therapy, that have undergone clinical trials and significantly contribute to the tumor remission and overall survival of rare cancer patients. In this review, we summarize recent breakthroughs and insights in the understanding of 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.
癌症是全球主要的死亡原因，罕见癌症包括 230 种不同的亚型，其发病率较低。尽管由于罕见癌症的发生率较低，在诊断和治疗方面存在固有挑战，但一些生物医学突破在这两个领域都取得了重大进展。本综述全面介绍了最先进的诊断技术，包括新一代测序和多组学，以及人工智能和机器学习的整合，这些技术彻底改变了罕见癌症的诊断。此外，本综述还重点介绍了罕见癌症治疗选择的最新创新，包括免疫疗法、靶向疗法、移植和药物联合治疗，这些疗法已经进行了临床试验，极大地促进了罕见癌症患者的肿瘤缓解和总生存率。在本综述中，我们总结了罕见癌症病理生理学、诊断和治疗方式方面的最新突破和见解，以及在罕见癌症诊断数据解释和药物开发方面面临的挑战。
