Faculty of Medicine, Babak Myeloma Group, Department of Pathological Physiology, Masaryk University, Brno, Czech Republic.
Department of Chemistry and Toxicology, Veterinary Research Institute, Brno, Czech Republic.
Eur J Haematol. 2017 Oct;99(4):291-299. doi: 10.1111/ejh.12925. Epub 2017 Aug 3.
Although tumor cells are the most reliable source of tumor DNA, biopsy of the tumor is an invasive procedure that should be avoided in some cases. The main limitation of any biopsy is sampling of one tumor site, which may not represent all malignant clones due to the heterogeneity of the tumor. These clones respond to treatment differently and thus directly influence survival of the patient. Circulating cell-free DNA (cfDNA) is released from multiple tumor sites, reflects overall heterogeneity of the tumor, and correlates with its progression. Detection of tumor-specific genetic and epigenetic aberrations in cfDNA could have a direct impact on molecular diagnosis, prognosis, follow-up of disease, monitoring of minimal residual disease, and response to treatment. While most cfDNA data are still experimental, they are very promising. This review focuses on cfDNA in hematological malignancies.
虽然肿瘤细胞是肿瘤 DNA 最可靠的来源，但肿瘤活检是一种侵入性操作，在某些情况下应避免进行。任何活检的主要限制是仅对一个肿瘤部位进行取样，由于肿瘤的异质性，这可能无法代表所有恶性克隆。这些克隆对治疗的反应不同，因此直接影响患者的生存。循环无细胞游离 DNA（cfDNA）从多个肿瘤部位释放出来，反映了肿瘤的整体异质性，并与肿瘤的进展相关。cfDNA 中肿瘤特异性遗传和表观遗传异常的检测可能会对分子诊断、预后、疾病随访、微小残留病灶监测和治疗反应产生直接影响。虽然大多数 cfDNA 数据仍处于实验阶段，但它们非常有前途。本综述重点介绍血液系统恶性肿瘤中的 cfDNA。
