Allegra Alessandro, Cancemi Gabriella, Mirabile Giuseppe, Tonacci Alessandro, Musolino Caterina, Gangemi Sebastiano
Division of Hematology, Department of Human Pathology in Adulthood and Childhood "Gaetano Barresi", University of Messina, 98125 Messina, Italy.
Clinical Physiology Institute, National Research Council of Italy (IFC-CNR), 56124 Pisa, Italy.
Cancers (Basel). 2022 Aug 26;14(17):4136. doi: 10.3390/cancers14174136.
Liquid biopsy is one of the fastest emerging fields in cancer evaluation. Circulating tumour cells and tumour-originated DNA in plasma have become the new targets for their possible employ in tumour diagnosis, and liquid biopsy can define tumour burden without invasive procedures. Multiple Myeloma, one of the most frequent hematologic tumors, has been the target of therapeutic progresses in the last few years. Bone marrow aspirate is the traditional tool for diagnosis, prognosis, and genetic evaluation in multiple myeloma patients. However, this painful procedure presents a relevant drawback for regular disease examination as it requires an invasive practice. Moreover, new data demonstrated that a sole bone marrow aspirate is incapable of expressing the multifaceted multiple myeloma genetic heterogeneity. In this review, we report the emerging usefulness of the assessment of circulating tumour cells, cell-free DNA, extracellular RNA, cell-free proteins, extracellular vesicles, and tumour-educated platelets to evaluate the changing mutational profile of multiple myeloma, as early markers of disease, reliable predictors of prognosis, and as useful tools to perform less invasive monitoring in multiple myeloma.
液体活检是癌症评估中发展最快的领域之一。循环肿瘤细胞和血浆中的肿瘤源性DNA因其在肿瘤诊断中的潜在应用而成为新的靶点,并且液体活检无需侵入性操作即可确定肿瘤负荷。多发性骨髓瘤是最常见的血液系统肿瘤之一,在过去几年一直是治疗进展的目标。骨髓穿刺是多发性骨髓瘤患者诊断、预后评估和基因评估的传统工具。然而,这种痛苦的操作对于常规疾病检查来说存在一个重大缺点,因为它需要侵入性操作。此外,新数据表明,仅靠骨髓穿刺无法体现多发性骨髓瘤多方面的基因异质性。在本综述中,我们报告了评估循环肿瘤细胞、游离DNA、细胞外RNA、游离蛋白质、细胞外囊泡和肿瘤诱导血小板在评估多发性骨髓瘤不断变化的突变谱方面新出现的作用,它们可作为疾病的早期标志物、可靠的预后预测指标,以及在多发性骨髓瘤中进行侵入性较小监测的有用工具。