New techniques to identify the tissue of origin for cancer of unknown primary in the era of precision medicine: progress and challenges

作者：Wenyuan Ma, Hui Wu, Yiran Chen, Hongxia Xu, Junjie Jiang, Bang Du, Mingyu Wan, Xiaolu Ma, Xiaoyu Chen, Lili Lin, Xinhui Su, Xuanwen Bao, Yifei Shen, Nong Xu, Jian Ruan, Haiping Jiang, Yongfeng Ding · 发表于：Briefings in Bioinformatics · 年份：2024 · DOI：10.1093/bib/bbae028 · 被引用次数：28 · 研究领域：Cancer Diagnosis and Treatment、Oral and Maxillofacial Pathology、Tumors and Oncological Cases

Despite a standardized diagnostic examination, cancer of unknown primary (CUP) is a rare metastatic malignancy with an unidentified tissue of origin (TOO). Patients diagnosed with CUP are typically treated with empiric chemotherapy, although their prognosis is worse than those with metastatic cancer of a known origin. TOO identification of CUP has been employed in precision medicine, and subsequent site-specific therapy is clinically helpful. For example, molecular profiling, including genomic profiling, gene expression profiling, epigenetics and proteins, has facilitated TOO identification. Moreover, machine learning has improved identification accuracy, and non-invasive methods, such as liquid biopsy and image omics, are gaining momentum. However, the heterogeneity in prediction accuracy, sample requirements and technical fundamentals among the various techniques is noteworthy. Accordingly, we systematically reviewed the development and limitations of novel TOO identification methods, compared their pros and cons and assessed their potential clinical usefulness. Our study may help patients shift from empirical to customized care and improve their prognoses.