Döhner H, Pilz T, Fischer K, Cabot G, Diehl D, Fink T, Stilgenbauer S, Bentz M, Lichter P
Medizinische Klinik und Poliklinik V, Universität Heidelberg, Germany.
Leuk Lymphoma. 1994 Dec;16(1-2):97-103. doi: 10.3109/10428199409114145.
Deletions or translocations of 13q, most commonly involving band 13q14, belong to the most frequent structural chromosome abnormalities in B-cell chronic lymphocytic leukemia (B-CLL). In a combined metaphase and interphase cytogenetic study using conventional G-banding analysis and fluorescence in situ hybridization (ISH) we previously analysed the retinoblastoma susceptibility gene (RB-1) and its chromosomal locus 13q14 in 35 patients with chronic B-cell leukemias. We report here on the interphase cytogenetic analysis of 109 cases with chronic B-cell leukemias [B-CLL = 90; B-prolymphocytic leukemia (B-PLL) = 6, hairy cell leukemia (HCL) = 13]; a subset of 49 patients (B-CLL = 45; B-PLL = 4) was studied by conventional G-banding analysis. By G-banding, 5/45 (11%) patients with B-CLL had deletions or translocations affecting band 13q14; in contrast, ISH to interphase cells showed RB-1 deletion in 19/90 (21%) patients with B-CLL. No 13q14 abnormalities or RB-1 deletion were detected in patients with B-PLL and HCL. Our data confirm the high frequency of RB-1 deletions in B-CLL and further emphasize the possible pathogenetic role of this genomic region.
13号染色体长臂（13q）的缺失或易位，最常见的是涉及13q14带，属于B细胞慢性淋巴细胞白血病（B-CLL）中最常见的染色体结构异常。在一项使用传统G显带分析和荧光原位杂交（ISH）的中期和间期细胞遗传学联合研究中，我们之前分析了35例慢性B细胞白血病患者的视网膜母细胞瘤易感基因（RB-1）及其染色体位点13q14。我们在此报告109例慢性B细胞白血病患者的间期细胞遗传学分析结果[B-CLL = 90例；B原淋巴细胞白血病（B-PLL）= 6例，毛细胞白血病（HCL）= 13例]；其中49例患者的一个亚组（B-CLL = 45例；B-PLL = 4例）通过传统G显带分析进行了研究。通过G显带分析，45例B-CLL患者中有5例（11%）存在影响13q14带的缺失或易位；相比之下，对间期细胞进行ISH检测显示，90例B-CLL患者中有19例（21%）存在RB-1缺失。在B-PLL和HCL患者中未检测到13q14异常或RB-1缺失。我们的数据证实了B-CLL中RB-1缺失的高频率，并进一步强调了该基因组区域可能的致病作用。
