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诊断时,原发性淀粉样变性患者的外周血及单采干细胞中存在具有克隆性轻链的细胞。

Cells with clonal light chains are present in peripheral blood at diagnosis and in apheretic stem cell harvests of primary amyloidosis.

作者信息

Perfetti V, Ubbiali P, Magni M, Colli Vignarelli M, Casarini S, Matteucci P, Gianni A M, Merlini G

机构信息

Organ Transplantation Research Laboratories, Department of Internal Medicine, University of Pavia-IRCCS Policlinico S Matteo, Italy.

出版信息

Bone Marrow Transplant. 1999 Feb;23(4):323-7. doi: 10.1038/sj.bmt.1701590.

Abstract

In primary systemic amyloidosis, small numbers of bone marrow plasma cells secrete monoclonal light chains that form extracellular fibrils (amyloid) in various organs. Evidence limited to a few cases suggests that rare clonal elements can also be found in the peripheral blood (PB), and this may be relevant in PB stem cell autotransplantation. Since up to 40% of amyloid clones do not synthesize heavy chains, in order to detect tumor cells with high specificity and sensitivity we developed a seminested allele-specific oligonucleotide polymerase chain reaction for tumor light chains. Clone-related sequences were detected in DNA and/or cDNA from the PB cells of eight of 10 patients at diagnosis and from apheretic collections of three of four cases undergoing PB progenitor autotransplantation. Since there are experimental data suggesting that circulating tumor cells may be involved in the growth of the amyloidogenic clone and may be chemoresistant, these findings are relevant to the use of leukapheresis purging strategies for PB progenitor autotransplantation in amyloidosis.

摘要

在原发性系统性淀粉样变性中,少数骨髓浆细胞分泌单克隆轻链,这些轻链在各种器官中形成细胞外纤维(淀粉样蛋白)。限于少数病例的证据表明,在外周血(PB)中也可发现罕见的克隆成分,这可能与PB干细胞自体移植有关。由于高达40%的淀粉样蛋白克隆不合成重链,为了高特异性和高灵敏度地检测肿瘤细胞,我们开发了一种用于肿瘤轻链的半巢式等位基因特异性寡核苷酸聚合酶链反应。在10例诊断患者中的8例PB细胞的DNA和/或cDNA以及4例接受PB祖细胞自体移植的患者中的3例的采集的单采成分中检测到了克隆相关序列。由于有实验数据表明循环肿瘤细胞可能参与淀粉样蛋白生成克隆的生长且可能具有化疗抗性,这些发现与淀粉样变性中PB祖细胞自体移植的白细胞去除净化策略的应用有关。

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