Găman Mihnea-Alexandru, Cozma Matei-Alexandru, Dobrică Elena-Codruța, Crețoiu Sanda Maria, Găman Amelia Maria, Diaconu Camelia Cristina
Faculty of Medicine, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Department of Hematology, Center of Hematology and Bone Marrow Transplantation, Fundeni Clinical Institute, 022328 Bucharest, Romania.
Life (Basel). 2021 Jul 10;11(7):677. doi: 10.3390/life11070677.
Myeloproliferative neoplasms (MPNs) are rare, clonal disorders of the hematopoietic stem cell in which an uncontrolled proliferation of terminally differentiated myeloid cells is noted. Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are included in the category of Philadelphia-negative, so-called classical MPNs. The potential applications of liquid biopsy and liquid biopsy-based biomarkers have not been explored in MPNs until now. Thus, a systematic search was computed in PubMed/MEDLINE, Web of Science and The Cochrane Library and, in total, 198 potentially relevant papers were detected. Following the removal of duplicates ( = 85), 113 records were screened. After the exclusion of irrelevant manuscripts based on the screening of their titles and abstracts ( = 81), we examined the full texts of 33 manuscripts. Finally, after we applied the exclusion and inclusion criteria, 27 original articles were included in this review. Overall, the data analyzed in this review point out that liquid biopsy and liquid biopsy-based biomarkers (cell-free DNA, extracellular vesicles, microparticles, circulating endothelial cells) could be used in MPNs for diagnostic and prognostic purposes. Future research is needed to clarify whether this technique can be employed to differentiate between MPN subtypes and secondary causes of erythrocytosis, thrombocytosis and myelofibrosis, as well as to predict the development of thrombosis.
骨髓增殖性肿瘤（MPNs）是罕见的造血干细胞克隆性疾病，其特征为终末分化髓系细胞的不受控制增殖。真性红细胞增多症（PV）、原发性血小板增多症（ET）和原发性骨髓纤维化（PMF）属于费城染色体阴性的所谓经典MPNs范畴。迄今为止，液体活检及基于液体活检的生物标志物在MPNs中的潜在应用尚未得到探索。因此，我们在PubMed/MEDLINE、科学网和考克兰图书馆进行了系统检索，共检测到198篇潜在相关论文。去除重复文献（=85篇）后，筛选出113条记录。根据标题和摘要筛选排除无关稿件（=81篇）后，我们查阅了33篇稿件的全文。最后，在应用排除和纳入标准后，本综述纳入了27篇原创文章。总体而言，本综述分析的数据表明，液体活检及基于液体活检的生物标志物（游离DNA、细胞外囊泡、微粒、循环内皮细胞）可用于MPNs的诊断和预后评估。未来需要开展研究以明确该技术是否可用于区分MPN亚型以及红细胞增多症、血小板增多症和骨髓纤维化的继发原因，以及预测血栓形成的发展。
