Alimirzaie Sahar, Bagherzadeh Maryam, Akbari Mohammad R
Women's College Research Institute, Women's College Hospital, University of Toronto, Toronto, Ontario, Canada.
Faculty of Arts and Science, University of Toronto, Toronto, Ontario, Canada.
Clin Genet. 2019 Jun;95(6):643-660. doi: 10.1111/cge.13514. Epub 2019 Feb 27.
Breast cancer is the most common cancer among women worldwide. Due to its complexity in nature, effective breast cancer treatment can encounter many challenges. Traditional methods of cancer detection such as tissue biopsy are not comprehensive enough to capture the entire genomic landscape of breast tumors. However, with the introduction of novel techniques, the application of liquid biopsy has been enhanced, enabling the improvement of various aspects of breast cancer management including early diagnosis and screening, prediction of prognosis, early detection of relapse, serial sampling and efficient longitudinal monitoring of disease progress and response to treatment. Various components of tumor cells released into the blood circulation can be analyzed in liquid biopsy sampling, some of which include circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), cell-free RNA, tumor-educated platelets and exosomes. These components can be utilized for different purposes. As an example, ctDNA can be sequenced for genetic profiling of the tumors to enhance individualized treatment and longitudinal screening. CTC plasma count analysis or ctDNA detection after curative tumor resection surgery could facilitate early detection of minimal residual disease, aiding in the initiation of adjuvant therapy to prevent recurrence. Furthermore, CTC plasma count can be assessed to determine the stage and prognosis of breast cancer. In this review, we discuss the advantages and limitations of the various components of liquid biopsy used in breast cancer diagnosis and will expand on aspects that require further focus in future research.
乳腺癌是全球女性中最常见的癌症。由于其本质复杂，有效的乳腺癌治疗会面临诸多挑战。传统的癌症检测方法，如组织活检，不足以全面捕捉乳腺肿瘤的整个基因组情况。然而，随着新技术的引入，液体活检的应用得到了加强，有助于改善乳腺癌管理的各个方面，包括早期诊断和筛查、预后预测、复发早期检测、连续采样以及对疾病进展和治疗反应的高效纵向监测。在液体活检采样中，可以分析释放到血液循环中的肿瘤细胞的各种成分，其中包括循环肿瘤细胞（CTC）、循环肿瘤DNA（ctDNA）、游离RNA、肿瘤诱导血小板和外泌体。这些成分可用于不同目的。例如，可对ctDNA进行测序以进行肿瘤的基因分型，从而加强个体化治疗和纵向筛查。在根治性肿瘤切除手术后进行CTC血浆计数分析或ctDNA检测，有助于早期发现微小残留病，辅助启动辅助治疗以预防复发。此外，可评估CTC血浆计数以确定乳腺癌的分期和预后。在本综述中，我们讨论了液体活检的各种成分在乳腺癌诊断中的优缺点，并将阐述未来研究中需要进一步关注的方面。
