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免疫球蛋白 κ 轻链基因重排分析在 B 细胞淋巴瘤中的诊断价值。

Diagnostic value of immunoglobulin κ light chain gene rearrangement analysis in B-cell lymphomas.

机构信息

Department of Molecular Diagnostics, Institute of Oncology Ljubljana, Ljubljana, Slovenia.

Division of Medical Oncology, Institute of Oncology Ljubljana, Ljubljana, Slovenia.

出版信息

Int J Oncol. 2015 Mar;46(3):953-62. doi: 10.3892/ijo.2014.2790. Epub 2014 Dec 9.

Abstract

Analysis of the immunoglobulin κ light chain (IGK) gene is an alternative method for B-cell clonality assessment in the diagnosis of mature B-cell proliferations in which the detection of clonal immunoglobulin heavy chain (IGH) gene rearrangements fails. The aim of the present study was to evaluate the added value of standardized BIOMED-2 assay for the detection of clonal IGK gene rearrangements in the diagnostic setting of suspected B-cell lymphomas. With this purpose, 92 specimens from 80 patients with the final diagnosis of mature B-cell lymphoma (37 specimens), mature T-cell lymphoma (26 specimens) and reactive lymphoid proliferation (29 specimens) were analyzed for B-cell clonality. B-cell clonality analysis was performed using the BIOMED-2 IGH and IGK gene clonality assays. The determined sensitivity of the IGK assay was 67.6%, while the determined sensitivity of the IGH assay was 75.7%. The sensitivity of combined IGH+IGK assay was 81.1%. The determined specificity of the IGK assay was 96.2% in the group of T-cell lymphomas and 96.6% in the group of reactive lesions. The determined specificity of the IGH assay was 84.6% in the group of lymphomas and 86.2% in the group of reactive lesions. The comparison of GeneScan (GS) and heteroduplex pretreatment-polyacrylamide gel electrophoresis (HD-PAGE) methods for the analysis of IGK gene rearrangements showed a higher efficacy of GS analysis in a series of 27 B-cell lymphomas analyzed by both methods. In the present study, we demonstrated that by applying the combined IGH+IGK clonality assay the overall detection rate of B-cell clonality was increased by 5.4%. Thus, we confirmed the added value of the standardized BIOMED-2 IGK assay for assessment of B-cell clonality in suspected B-cell lymphomas with inconclusive clinical and cyto/histological diagnosis.

摘要

免疫球蛋白 κ 轻链(IGK)基因分析是 B 细胞克隆性评估的一种替代方法,用于诊断成熟 B 细胞增殖,其中克隆性免疫球蛋白重链(IGH)基因重排检测失败。本研究旨在评估 BIOMED-2 检测标准化检测在疑似 B 细胞淋巴瘤的诊断环境中检测克隆性 IGK 基因重排的附加价值。为此,对 80 例患者的 92 份标本(37 份成熟 B 细胞淋巴瘤标本、26 份成熟 T 细胞淋巴瘤标本和 29 份反应性淋巴增生标本)进行 B 细胞克隆性分析。使用 BIOMED-2 IGH 和 IGK 基因克隆性检测进行 B 细胞克隆性分析。IGK 检测的确定敏感性为 67.6%,IGH 检测的确定敏感性为 75.7%。IGH+IGK 联合检测的确定敏感性为 81.1%。在 T 细胞淋巴瘤组中,IGK 检测的确定特异性为 96.2%,在反应性病变组中,IGK 检测的确定特异性为 96.6%。在淋巴瘤组中,IGH 检测的确定特异性为 84.6%,在反应性病变组中,IGH 检测的确定特异性为 86.2%。对 27 例同时采用两种方法(基因扫描(GS)和异源双链体预处理-聚丙烯酰胺凝胶电泳(HD-PAGE))分析 IGK 基因重排的研究进行比较,结果显示在一系列 27 例 B 细胞淋巴瘤中,GS 分析的效果更高。在本研究中,我们证明通过应用 IGH+IGK 克隆性联合检测,B 细胞克隆性的总体检测率提高了 5.4%。因此,我们证实了 BIOMED-2 标准化 IGK 检测在疑似 B 细胞淋巴瘤中评估 B 细胞克隆性的附加价值,这些疑似病例的临床和细胞/组织学诊断不明确。

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