Stockero Kimberly J, Fink Stephanie R, Smoley Stephanie A, Paternoster Sarah F, Shanafelt Tait D, Call Timothy G, Zent Clive S, Van Dyke Daniel L, Kay Neil E, Dewald Gordon W
Cytogenetics Laboratory, Mayo Clinic, Rochester, MN 55905, USA.
Cancer Genet Cytogenet. 2006 Apr 15;166(2):152-6. doi: 10.1016/j.cancergencyto.2005.10.011.
Interphase fluorescence in situ hybridization (FISH) studies with D13S319 show that deletions of 13q14 are common in B-cell chronic lymphocytic leukemia (B-CLL). In contrast, conventional cytogenetic studies in B-CLL seldom reveal abnormalities of chromosome 13. We hypothesized that chromosome 13 anomalies might not be detected because they are caused by cryptic deletions rather than by the absence of dividing B-CLL cells. To investigate this possibility, we used FISH with D13S319 to study metaphases from 12 patients known to have 13q- by interphase FISH. These same patients had normal chromosomes by conventional cytogenetic studies. As a result of this study, we report evidence that B-CLL metaphases with 13q- are not detected because these deletions are often cryptic and not visible by standard G-banding.
使用D13S319进行的间期荧光原位杂交（FISH）研究表明，13q14缺失在B细胞慢性淋巴细胞白血病（B-CLL）中很常见。相比之下，B-CLL的传统细胞遗传学研究很少发现13号染色体异常。我们推测，13号染色体异常可能未被检测到，因为它们是由隐匿性缺失引起的，而不是由于缺乏正在分裂的B-CLL细胞。为了研究这种可能性，我们使用D13S319进行FISH，以研究12例通过间期FISH已知有13q-的患者的中期细胞。这些患者通过传统细胞遗传学研究显示染色体正常。这项研究的结果表明，13q-的B-CLL中期细胞未被检测到，是因为这些缺失通常是隐匿性的，通过标准G显带不可见。
