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原发性和继发性浆细胞白血病的细胞遗传学特征:病因发病机制观点、预后影响及与伴有循环克隆性浆细胞差异的新诊断多发性骨髓瘤的临床相关性

The Cytogenetic Profile of Primary and Secondary Plasma Cell Leukemia: Etiopathogenetic Perspectives, Prognostic Impact and Clinical Relevance to Newly Diagnosed Multiple Myeloma with Differential Circulating Clonal Plasma Cells.

作者信息

Papadhimitriou Stefanos I, Terpos Evangelos, Liapis Konstantinos, Pavlidis Dimitrios, Marinakis Theodoros, Kastritis Efstathios, Dimopoulos Meletios-Athanasios, Tsitsilonis Ourania E, Kostopoulos Ioannis V

机构信息

Department of Laboratory Hematology, Athens Regional General Hospital "Georgios Gennimatas", 11527 Athens, Greece.

Department of Clinical Therapeutics, School of Medicine, National and Kapodistrian University of Athens, 11528 Athens, Greece.

出版信息

Biomedicines. 2022 Jan 19;10(2):209. doi: 10.3390/biomedicines10020209.

Abstract

Plasma cell leukemia (PCL) is a rare and aggressive plasma cell dyscrasia that may appear as de-novo leukemia (pPCL) or on the basis of a pre-existing multiple myeloma (MM), called secondary plasma cell leukemia (sPCL). In this prospective study, we have applied a broad panel of FISH probes in 965 newly diagnosed MM (NDMM) and 44 PCL cases of both types to reveal the particular cytogenetic differences among the three plasma cell dyscrasias. In order to evaluate the frequency and patterns of clonal evolution, the same FISH panel was applied both at diagnosis and at the time of first relapse for 81 relapsed MM patients and both at MM diagnosis and during sPCL transformation for the 19 sPCL cases described here. pPCL was characterized by frequent translocations and t(11;14) with a 11q13 breakpoint centered on the gene, not commonly seen in MM. sPCL had a higher number of FISH abnormalities and was strongly associated with the presence of del(17p13), either acquired at the initial MM stage or as a newly acquired lesion upon leukemogenesis in the context of the apparent clonal evolution observed in sPCL. In clinical terms, sPCL showed a shorter overall survival than pPCL with either standard or high-risk (t(4;14) and/or t(14;16) and/or del(17p13) and/or ≥3 concomitant aberrations) abnormalities (median 5 months vs. 21 and 11 months respectively, < 0.001), suggesting a prognostic stratification based on cytogenetic background. These observations proved relevant in the NDMM setting, where higher levels of circulating plasma cells (CPCs) were strongly associated with high-risk cytogenetics (median frequency of CPCs: 0.11% of peripheral blood nucleated cells for high-risk vs. 0.007% for standard-risk NDMM, < 0.0001). Most importantly, the combined evaluation of CPCs (higher or lower than a cut-off of 0.03%), together with patients' cytogenetic status, could be used for an improved prognostic stratification of NDMM patients.

摘要

浆细胞白血病(PCL)是一种罕见且侵袭性的浆细胞发育异常,可表现为原发性白血病(pPCL),或基于先前存在的多发性骨髓瘤(MM),称为继发性浆细胞白血病(sPCL)。在这项前瞻性研究中,我们对965例新诊断的MM(NDMM)和44例两种类型的PCL病例应用了广泛的荧光原位杂交(FISH)探针,以揭示三种浆细胞发育异常之间特定的细胞遗传学差异。为了评估克隆进化的频率和模式,对81例复发MM患者在诊断时和首次复发时均应用相同的FISH检测板,对这里描述的19例sPCL病例在MM诊断时和sPCL转化期间均应用该检测板。pPCL的特征是频繁发生易位和t(11;14),其11q13断点以该基因(在MM中不常见)为中心。sPCL的FISH异常数量更多,并且与del(17p13)的存在密切相关,del(17p13)要么在初始MM阶段获得,要么在sPCL中明显的克隆进化背景下白血病发生时作为新获得的病变。在临床方面,sPCL的总生存期短于pPCL,无论其具有标准异常还是高危异常(t(4;14)和/或t(14;16)和/或del(17p13)和/或≥3种伴随畸变)(中位生存期分别为5个月、21个月和11个月,P<0.001),这表明基于细胞遗传学背景进行预后分层。这些观察结果在NDMM情况下被证明是相关的,在NDMM中,循环浆细胞(CPC)水平较高与高危细胞遗传学密切相关(高危患者外周血有核细胞中CPC的中位频率为0.11%,而标准风险NDMM为0.007%,P<0.0001)。最重要的是,将CPC(高于或低于0.03%的临界值)与患者的细胞遗传学状态进行联合评估,可用于改善NDMM患者的预后分层。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c556/8869452/51078418e75f/biomedicines-10-00209-g001.jpg

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