Aamot Hege Vangstein, Micci Francesca, Holte Harald, Delabie Jan, Heim Sverre
Department of Cancer Genetics, The Norwegian Radium Hospital, Oslo, Norway.
Br J Haematol. 2005 Sep;130(6):890-901. doi: 10.1111/j.1365-2141.2005.05706.x.
We analysed the acquired chromosomal aberrations of 22 marginal zone lymphoma (MZL) patients by various genome-wide cytogenetic techniques, such as G-banding, multicolour fluorescence in situ hybridisation (M-FISH), cross-species colour banding (RxFISH), and comparative genomic hybridisation (CGH), as well as FISH with locus-specific probes. Patients with an abnormal chromosome 3 (n = 11), the most frequently rearranged chromosome, showed a shorter median survival than patients with a normal chromosome 3 (n = 11, 74 months vs. 219 months, P < 0.03). Four of five patients with nodal MZL had chromosome 3 abnormalities and patients with nodal MZL had a shorter median survival than patients in the other morphological subgroups of MZL (P < 0.003). CGH analysis showed only gains of chromosome material, namely of chromosome regions 3p12-25, 3q12-21, 3q23-28, 12q13-15, 12q22-24, 19p13 and 19q13 in two to four cases each (20-40%). In two MZL, the novel unbalanced translocation der(13)t(3;13)(q24;p11) was detected as the sole karyotypic rearrangement, indicating that gain of 3q24-qter could be an important event in the pathogenesis of these lymphomas. Another two cases showed, in addition to other abnormalities, a t(4;14)(p13;q32). Both these lymphomas had involvement of the IGH gene at 14q32, and one of them also of the RHOH/TTF gene at 4p13, which encodes a new member of the RHO protein subfamily.
我们通过多种全基因组细胞遗传学技术,如G显带、多色荧光原位杂交(M-FISH)、跨物种染色体涂色(RxFISH)和比较基因组杂交(CGH),以及使用位点特异性探针的FISH,分析了22例边缘区淋巴瘤(MZL)患者获得性染色体畸变情况。3号染色体异常的患者(n = 11),3号染色体是最常发生重排的染色体,其总生存期的中位数短于3号染色体正常的患者(n = 11,74个月对219个月,P < 0.03)。五例结内MZL患者中有四例存在3号染色体异常,结内MZL患者的总生存期中位数短于MZL其他形态学亚组的患者(P < 0.003)。CGH分析仅显示染色体物质增加,即分别在两到四例(20 - 40%)中出现3p12 - 25、3q12 - 21、3q23 - 28、12q13 - 15、12q22 - 24、19p13和19q13区域。在两例MZL中,检测到新型不平衡易位der(13)t(3;13)(q24;p11)作为唯一的核型重排,表明3q24 - qter的增加可能是这些淋巴瘤发病机制中的一个重要事件。另外两例除其他异常外,还显示t(4;14)(p13;q32)。这两例淋巴瘤均累及14q32处的IGH基因,其中一例还累及4p13处的RHOH/TTF基因,该基因编码RHO蛋白亚家族的一个新成员。