D'Haese Jan G, Tsukasaki Kunihiro, Cremer Friedrich W, Fischer Christine, Bartram Claus R, Jauch Anna
Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, D-69120 Heidelberg, Germany.
Cancer Genet Cytogenet. 2005 Oct 15;162(2):107-14. doi: 10.1016/j.cancergencyto.2005.04.004.
The t(14;18)(q32.3;q21), hallmark of follicular lymphoma (FL), is less frequently observed in Asian patients than in Westerners. Little is known about additional chromosomal aberrations in Asian FL patients. We applied comparative genomic hybridization (CGH) to screen for genomic imbalances in 32 biopsy samples from 23 Japanese patients with nodal FL. The t(14;18) was assessed with polymerase chain reaction (PCR) using primers for the major (MBR), 3'MBR, minor (mcr), 5'mcr, and intermediate breakpoint cluster regions (icr). In 17 of 23 patients, CGH analyses detected genomic imbalances. Gains frequently affected chromosomes 18p (6 of 23), X (5 of 23), 5 (4 of 23), 12 (4 of 23), 2 (3 of 23), and 16 (3 of 23). The only recurrent loss affected chromosome 6q (2 of 23). A t(14;18) was detected in 13 of 23 patients (56.5%). Breakpoints were located in the MBR (10 patients), in the 3'MBR, in the mcr, and in the icr (1 patient each). The frequency of aberrations detected by CGH as well as relapse-free survival were not distinctly different between patients with and without a t(14;18). In summary, no significant difference in the overall frequency of aberrations compared with Westerners was found. Despite the extended primer set used, the frequency of PCR-detected t(14;18) remained low. Additional studies are required to assess the reasons for geographic variation in FL.
t(14;18)(q32.3;q21)是滤泡性淋巴瘤(FL)的标志性特征,在亚洲患者中比在西方人中较少见。关于亚洲FL患者的其他染色体畸变知之甚少。我们应用比较基因组杂交(CGH)技术,对23例日本淋巴结FL患者的32份活检样本进行基因组失衡筛查。使用针对主要(MBR)、3'MBR、次要(mcr)、5'mcr和中间断点簇区域(icr)的引物,通过聚合酶链反应(PCR)评估t(14;18)。在23例患者中的17例中,CGH分析检测到基因组失衡。增益常见于18p染色体(23例中的6例)、X染色体(23例中的5例)、5号染色体(23例中的4例)、12号染色体(23例中的4例)、2号染色体(23例中的3例)和16号染色体(23例中的3例)。唯一常见的缺失发生在6q染色体(23例中的2例)。23例患者中有13例(56.5%)检测到t(14;18)。断点位于MBR(10例患者)、3'MBR、mcr和icr(各1例患者)。CGH检测到的畸变频率以及无复发生存率在有和没有t(14;18)的患者之间没有明显差异。总之,与西方人相比,在畸变的总体频率上未发现显著差异。尽管使用了扩展引物组,但PCR检测到的t(14;18)频率仍然较低。需要进一步研究以评估FL地理差异的原因。