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滤泡性淋巴瘤患者中t(14;18)的频率:地理或技术差异

Frequency of t(14;18) in follicular lymphoma patients: geographical or technical variation.

作者信息

Ismail S I, Sughayer M A, Al-Quadan T F, Qaqish B M, Tarawneh M S

机构信息

Department of Biochemistry, The University of Jordan, Amman 11942, Jordan.

出版信息

Int J Lab Hematol. 2009 Oct;31(5):535-43. doi: 10.1111/j.1751-553X.2008.01075.x. Epub 2008 May 21.

Abstract

The t(14;18) translocation is the most distinguishing molecular finding in follicular lymphoma (FL). However, the reported frequencies of t(14;18) in FL show significant variation, which is often attributed to geographical and/or methodological factors. The methods used to detect t(14;18) include Southern blotting, conventional cytogenetics, fluorescent in situ hybridization, and polymerized chain reaction (PCR). Because of its practicality and superior sensitivity, PCR is becoming the more commonly used method in clinical laboratories. The identification of the main breakpoint regions on chromosome 18, including the major breakpoint region (MBR), the minor cluster region (mcr), and the newly defined intermediate cluster region (icr), increased the detection frequency of PCR. In our study, using a highly sensitive nested PCR strategy with primers for MBR, mcr and icr regions, we were able to detect t(14;18) in 95% of FL patients, which is one of the highest reported frequencies using PCR. We screened 58 FL patient samples collected retrospectively from different hospitals in Jordan. DNA was extracted from archival paraffin-embedded samples, some of which were >10 years old. The respective breakpoint distributions were, 47 for MBR (81%), two for mcr (3.5%) and six for icr (10.3%). In this report, we analyze this high frequency of t(14;18) detection in a general review of the recent literature, in an attempt to assess the geographical vs. methodological influences on the reported frequencies.

摘要

t(14;18)易位是滤泡性淋巴瘤(FL)最显著的分子学发现。然而,报道的FL中t(14;18)的频率存在显著差异,这通常归因于地理和/或方法学因素。用于检测t(14;18)的方法包括Southern印迹法、传统细胞遗传学、荧光原位杂交和聚合酶链反应(PCR)。由于其实用性和更高的敏感性,PCR正成为临床实验室中更常用的方法。18号染色体上主要断裂点区域的鉴定,包括主要断裂点区域(MBR)、次要簇区域(mcr)和新定义的中间簇区域(icr),提高了PCR的检测频率。在我们的研究中,使用针对MBR、mcr和icr区域的引物的高灵敏度巢式PCR策略,我们能够在95%的FL患者中检测到t(14;18),这是使用PCR报道的最高频率之一。我们筛选了从约旦不同医院回顾性收集的58例FL患者样本。从存档的石蜡包埋样本中提取DNA,其中一些样本已有10多年历史。各自的断裂点分布为,MBR有47例(81%),mcr有2例(3.5%),icr有6例(10.3%)。在本报告中,我们在对近期文献的综合回顾中分析了这种高频率的t(14;18)检测,试图评估地理因素与方法学因素对报道频率的影响。

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