Kubaczková V, Sedlarikova L, Bollová B, Sandecká V, Stork M, Pour L, Sevcikova S
Klin Onkol. 2017 Summer;30(Supplementum2):13-20. doi: 10.14735/amko20172S13.
Unlike bone marrow biopsies, liquid biopsies represent a gentler, more accessible, less painful, repeatable and more comprehensive approach to get biologically relevant information about the entire tumor but also about treatment response and level of minimal residual disease. This is all possible since peripheral blood contains not only circulating tumor cells but also many circulating molecules of nucleic acids (microRNA, cell-free DNA, long non-coding RNA etc.). Multiple myeloma is a genetically heterogeneous disease characterized by multifocal tumor deposits in the bone marrow but also focal lesions elsewhere. Single-site biopsy of the bone marrow creates a sampling bias that provides a limited molecular profile as the biopsy cannot capture all subclones. Moreover, during disease progression and treatment, molecular profile is changed and subclones of multiple myeloma cells resistant to treatment are formed. Likewise, various clones found in extramedullary sites that are not present in the bone marrow respond differently to treatment directly influencing survival of patients. Thus, liquid biopsies seem to be a relevant and necessary next step for diseases such as multiple myeloma.Key words: multiple myeloma - minimal residual disease - prognosis - liquid biopsies - cell-free DNA - non-coding RNA.
与骨髓活检不同，液体活检是一种更温和、更易获取、痛苦更小、可重复且更全面的方法，不仅可以获取有关整个肿瘤的生物学相关信息，还能了解治疗反应和微小残留病水平。这一切之所以成为可能，是因为外周血不仅含有循环肿瘤细胞，还含有许多核酸循环分子（微小RNA、游离DNA、长链非编码RNA等）。多发性骨髓瘤是一种基因异质性疾病，其特征是骨髓中存在多灶性肿瘤沉积，其他部位也有局灶性病变。骨髓的单点活检会产生取样偏差，由于活检无法捕获所有亚克隆，因此只能提供有限的分子概况。此外，在疾病进展和治疗过程中，分子概况会发生变化，会形成对治疗耐药的多发性骨髓瘤细胞亚克隆。同样，在骨髓中不存在的髓外部位发现的各种克隆对治疗的反应也不同，这直接影响患者的生存。因此，对于多发性骨髓瘤等疾病，液体活检似乎是下一步相关且必要的措施。关键词：多发性骨髓瘤-微小残留病-预后-液体活检-游离DNA-非编码RNA
