Wilkens L, Tchinda J, Burkhardt D, Nolte M, Werner M, Georgii A
Pathologisches Institut der Medizinischen Hochschule, Hannover, Germany.
Hum Pathol. 1998 Aug;29(8):833-9. doi: 10.1016/s0046-8177(98)90453-1.
Comparative genomic hybridization (CGH) has been proven to be an important tool in interphase cytogenetics of solid tumors. Although, because of methodological implications, balanced aberrations are not detected by CGH, the technique has uncovered a variety of new and interesting imbalanced karyotype changes. However, only a few studies deal with its application to hematologic disorders, although this is a main topic of cytogenetics. The aim of our study was, therefore, to evaluate the usefulness of CGH in the examination of hematologic neoplasms. For this purpose, bone marrow aspirates of 33 patients with different hematologic disorders were examined with CGH and the results compared with conventional cytogenetics (CC) and fluorescence in situ hybridization (FISH). CGH showed chromosome changes in 8 of 33 cases. CC found balanced aberrations in 4 of 33 and unbalanced changes in 9 of 33 samples. Differences between CGH and CC in unbalanced aberrations were seen in four cases. In these samples, either the number of aberrant cells found by CC was low and, therefore, difficult to detect by CGH, or complex aberrations in different cell clones as seen in CC were lumped together as one karyotype by CGH. In one sample, CC was not capable of giving any results at all, whereas CGH showed trisomy 8. CGH was also helpful in defining the bands involved in the structural aberrations, which was difficult by CC in some cases because of the low quality of metaphase spreads. All results obtained by CGH were confirmed by FISH, whereas CC and FISH were discordant in one case. Although CGH was not able to detect all aberrations, it gave important additional information for the correct localization of the aberrations found in CC, and it was most helpful in samples not processed successfully in CC. These advantages would open up a new field of application for CGH not only for research, but also for diagnostic purposes.
比较基因组杂交（CGH）已被证明是实体瘤间期细胞遗传学中的一项重要工具。尽管由于方法学上的局限性，CGH无法检测到平衡的染色体畸变，但该技术已发现了各种新的、有趣的不平衡核型变化。然而，尽管血液学疾病是细胞遗传学的一个主要研究领域，但仅有少数研究涉及其在血液学疾病中的应用。因此，我们研究的目的是评估CGH在血液系统肿瘤检测中的实用性。为此，我们用CGH检测了33例患有不同血液学疾病患者的骨髓穿刺物，并将结果与传统细胞遗传学（CC）和荧光原位杂交（FISH）进行比较。CGH在33例中有8例显示出染色体变化。CC在33例中发现4例存在平衡的染色体畸变，9例存在不平衡的变化。在4例中观察到CGH与CC在不平衡染色体畸变方面存在差异。在这些样本中，要么CC发现的异常细胞数量较少，因此CGH难以检测到，要么CC中不同细胞克隆的复杂畸变在CGH中被合并为一种核型。在一个样本中，CC根本无法得出任何结果，而CGH显示出8号染色体三体。CGH在确定结构畸变所涉及的染色体带方面也很有帮助，在某些情况下，由于中期分裂相的质量较差，CC很难做到这一点。CGH获得的所有结果均通过FISH得到证实，而CC和FISH在1例中结果不一致。尽管CGH无法检测到所有的畸变，但它为CC中发现的畸变的正确定位提供了重要的额外信息，并且在CC未成功处理的样本中最有帮助。这些优势将为CGH开辟一个新的应用领域，不仅可用于研究，也可用于诊断目的。
