Davidsson Josef, Paulsson Kajsa, Johansson Bertil
Department of Clinical Genetics, Lund University Hospital, SE - 221 85 Lund, Sweden.
Cancer Genet Cytogenet. 2005 Dec;163(2):180-3. doi: 10.1016/j.cancergencyto.2005.05.013.
Several different investigations and methodologies have provided data supporting a monoclonal origin of neoplasia. For example, the vast majority of neoplastic disorders are cytogenetically monoclonal. Occasionally, however, clones with unrelated karyotypic anomalies are found, as, for example, in approximately 2% of acute myeloid leukemias (AML), myelodysplastic syndromes (MDS), and chronic myeloproliferative disorders (CMD). Whether such a cytogenetic polyclonality represents a polyclonal origin or whether different clones share a submicroscopic primary change, indicating a monoclonal origin, remains to be elucidated. Our objective was to ascertain if cryptic aberrations can be found in cytogenetically polyclonal hematologic malignancies using multicolor fluorescence in situ hybridization (M-FISH). Fourteen AML, MDS, and CMD cases were investigated. In none of these was a cryptic aberration found, common to all subclones, although the karyotypes were revised in two AMLs and one MDS. Thus, all malignancies were still classified as polyclonal after the M-FISH analyses. Based on the present results, we conclude that M-FISH, in general, does not reveal primary cryptic aberrations supporting a monoclonal origin of cytogenetically polyclonal hematologic malignancies.
多项不同的研究和方法已提供数据支持肿瘤形成的单克隆起源。例如，绝大多数肿瘤性疾病在细胞遗传学上是单克隆的。然而，偶尔会发现具有不相关核型异常的克隆，例如在大约2%的急性髓系白血病（AML）、骨髓增生异常综合征（MDS）和慢性骨髓增殖性疾病（CMD）中。这种细胞遗传学多克隆性是代表多克隆起源，还是不同克隆共享亚微观的原发性改变从而表明单克隆起源，仍有待阐明。我们的目的是使用多色荧光原位杂交（M-FISH）来确定在细胞遗传学上多克隆的血液系统恶性肿瘤中是否能发现隐匿性畸变。对14例AML、MDS和CMD病例进行了研究。尽管对2例AML和1例MDS的核型进行了修订，但在这些病例中均未发现所有亚克隆共有的隐匿性畸变。因此，经过M-FISH分析后，所有恶性肿瘤仍被分类为多克隆。基于目前的结果，我们得出结论，一般来说，M-FISH并不能揭示支持细胞遗传学上多克隆的血液系统恶性肿瘤单克隆起源的原发性隐匿性畸变。
