Wessels Peter H, Boelens Mirjam C, Monkhorst Kim, Sonke Gabe S, van den Broek Daan, Brandsma Dieta
Department of Neuro-Oncology, Netherlands Cancer Institute, Antoni Van Leeuwenhoek, Amsterdam, The Netherlands.
Department of Neurology, St. Antonius Hospital, Utrecht, Nieuwegein, The Netherlands.
J Neurooncol. 2023 Mar;162(1):1-13. doi: 10.1007/s11060-023-04261-2. Epub 2023 Feb 23.
Acquired mutations or altered gene expression patterns in brain metastases (BM) and/or leptomeningeal metastases (LM) of breast cancer may play a role in therapy-resistance and offer new molecular targets and treatment options. Despite expanding knowledge of genetic alterations in breast cancer and their metastases, clinical applications for patients with central nervous system (CNS) metastases are currently limited. An emerging tool are DNA-techniques that may detect genetic alterations of the CNS metastases in the cerebrospinal fluid (CSF). In this review we discuss genetic studies in breast cancer and CNS metastases and the role of liquid biopsies in CSF.
乳腺癌脑转移（BM）和/或软脑膜转移（LM）中获得性突变或基因表达模式改变可能在治疗耐药中起作用，并提供新的分子靶点和治疗选择。尽管对乳腺癌及其转移灶中的基因改变的认识不断扩大，但目前中枢神经系统（CNS）转移患者的临床应用仍然有限。一种新兴工具是DNA技术，其可能检测脑脊液（CSF）中CNS转移灶的基因改变。在本综述中，我们讨论乳腺癌和CNS转移的基因研究以及液体活检在CSF中的作用。
