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首页> 外文期刊>Modern Pathology >Chromosomal Imbalances in Diffuse Large B-Cell Lymphoma Detected by Comparative Genomic Hybridization
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Chromosomal Imbalances in Diffuse Large B-Cell Lymphoma Detected by Comparative Genomic Hybridization

机译：比较基因组杂交检测弥漫性大B细胞淋巴瘤中的染色体失衡。

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Diffuse large B-cell lymphoma (DLBCL) is the most common form of non-Hodgkin lymphoma. In contrast to many other hematological malignancies, no chromosomal abnormalities with a diagnostic or prognostic value have been identified in DLBCL. Numerical chromosomal imbalances were characterized by comparative genomic hybridization (CGH) performed on 54 DLBCL tumors from a total of 40 patients. The clonal relatedness was demonstrated in 9 of 11 pairs of matched diagnostic tumors and their relapses as determined by IGH gene rearrangement analysis and/or the CGH profiles. Furthermore, immunohistochemical expression analyses of BCL2 and BCL6/LAZ3 were performed on all cases. Copy number changes were detected in 94% of the diagnostic tumor samples and in all of the relapses. Chromosomal losses in diagnostic tumors were preferentially observed at 8p22-pter (29%), 1p34-pter (26%), 6q23-qter (20%), 17p12-pter (17%) and 22q (17%), 9p23-pter (14%), whereas gains were mainly seen in Xq25–26 (43%), 13q22 (26%), 12cen-q14 (20%), 3q24–25 (11%), 7 (11%), and 18q12–21 (11%). Loss of 22q was significantly more commonly seen in the diagnostic tumor samples with more advanced clinical stage in other words, Stage III–IV compared with Stage I–II, and band 18q21 was significantly more often gained in relapses as compared to diagnostic tumors. None of the recurrent alterations were detected as a single abnormality, suggesting that other genetic lesions below the detection level of CGH may be the initiating event in the tumorigenesis of DLBCL. However, the distribution of CGH alterations support the idea of a progression of genetic events where loss of 8p and 9p and gain of 3q, 13q, and 18q would represent relatively early events because they were distributed in tumors with only two abnormalities.
机译：弥漫性大B细胞淋巴瘤（DLBCL）是非霍奇金淋巴瘤的最常见形式。与许多其他血液系统恶性肿瘤相反，在DLBCL中未鉴定出具有诊断或预后价值的染色体异常。通过比较基因组杂交（CGH）对总共40例患者中的54个DLBCL肿瘤进行了染色体数字失衡的表征。通过IGH基因重排分析和/或CGH谱确定，在11对匹配的诊断性肿瘤中有9对显示出克隆相关性，并且它们的复发。此外，对所有病例进行了BCL2和BCL6 / LAZ3的免疫组织化学表达分析。在94％的诊断性肿瘤样品和所有复发中均检测到拷贝数变化。优先观察到诊断性肿瘤的染色体损失为8p22-pter（29％），1p34-pter（26％），6q23-qter（20％），17p12-pter（17％）和22q（17％） ），9p23-pter（14 ％），而涨幅主要集中在Xq25–26（43 ％），13q22（26 ％），12cen-q14（20 ％），3q24–25（11 ％） ，7（11 ％）和18q12-21（11 ％）。在临床较晚期的诊断肿瘤样品中，22q的丢失更为常见，换句话说，与I-II期相比，III-IV期更明显，与诊断肿瘤相比，18q21带在复发中获得的频率更高。没有任何复发性改变被检测为单一异常，这表明低于CGH检测水平的其他遗传损伤可能是DLBCL肿瘤发生中的起始事件。然而，CGH改变的分布支持遗传事件进展的想法，其中8p和9p的丢失以及3q，13q和18q的获得将代表相对较早的事件，因为它们分布在只有两个异常的肿瘤中。

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