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间变性大细胞淋巴瘤患者中NPM/ALK融合基因和CD30基因表达的定量PCR检测——残留病监测及其与疾病状态的相关性

Quantitative PCR detection of NPM/ALK fusion gene and CD30 gene expression in patients with anaplastic large cell lymphoma--residual disease monitoring and a correlation with the disease status.

作者信息

Kalinova Marketa, Krskova Lenka, Brizova Helena, Kabickova Edita, Kepak Tomas, Kodet Roman

机构信息

Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine Charles University in Prague, V Uvalu 84, 150 06 Prague 5, Czech Republic.

出版信息

Leuk Res. 2008 Jan;32(1):25-32. doi: 10.1016/j.leukres.2007.01.002. Epub 2007 Feb 21.

Abstract

Anaplastic large cell lymphoma (ALCL) represents a heterogeneous group of malignant lymphoproliferative diseases with a consistent expression of the cytokine receptor CD30. ALCL is frequently associated with a NPM/ALK fusion gene which is found in up to 75% of pediatric ALCLs. Real-time quantitative RT-PCR (RQ-RT-PCR) of NPM/ALK and CD30 gene expression was employed to analyze minimal residual disease (MRD) in 10 patients with NPM/ALK positive ALCL in 79 follow-up bone marrow (BM) and/or peripheral blood (PB) samples. In all BM samples from relapses and/or closely before a relapse, BM samples revealed NPM/ALK and CD30 positivity in at least one of the iliac BM trephines. Five out of nine relapses were preceded or were accompanied by minimally half log increased NPM/ALK levels in the BM. We found that RQ-RT-PCR of the CD30 expression is not suitable for MRD detection--only two relapses were accompanied by an increase of the CD30 level above a level which was detected in BM/PB samples from healthy individuals. RQ-RT-PCR of NPM/ALK expression is a promising and rapid approach for monitoring MRD.

摘要

间变性大细胞淋巴瘤(ALCL)是一组异质性恶性淋巴增殖性疾病,细胞因子受体CD30持续表达。ALCL常与NPM/ALK融合基因相关,在高达75%的儿童ALCL中可检测到该基因。采用实时定量逆转录聚合酶链反应(RQ-RT-PCR)检测NPM/ALK和CD30基因表达,分析79份随访骨髓(BM)和/或外周血(PB)样本中10例NPM/ALK阳性ALCL患者的微小残留病(MRD)。在所有复发时和/或复发前的骨髓样本中,至少有一份髂骨骨髓活检标本显示NPM/ALK和CD30呈阳性。9次复发中有5次在复发前或复发时骨髓中NPM/ALK水平至少升高半对数。我们发现,CD30表达的RQ-RT-PCR不适用于MRD检测——只有2次复发时CD30水平高于健康个体BM/PB样本中的检测水平。NPM/ALK表达的RQ-RT-PCR是一种很有前景的快速监测MRD的方法。

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