Bomme L, Bardi G, Pandis N, Fenger C, Kronborg O, Heim S
Department of Medical Genetics, Odense University, Denmark.
Cancer Genet Cytogenet. 1998 Oct 1;106(1):66-71. doi: 10.1016/s0165-4608(98)00047-8.
The phenotypic progression of colorectal tumors is driven by their step-by-step acquisition of genomic alterations. These pathogenetically important mutations are at the same time markers of tumor clonality. The aim of this study was to describe the clonal relation among synchronous colorectal adenomas. Twenty-four colorectal adenomas from 11 patients were subjected to chromosome banding analysis. Clonal chromosome abnormalities were found in 20 tumors. Recurrent structural rearrangements involved chromosomes 1, 13, 17, and 18. The most common numerical changes were gain of chromosomes 7, 13, 20, and 3 and loss of chromosome 18. Eight adenomas had subclones as evidence of clonal evolution. Similar clones in separate polyps were seen in tumors from 6 patients; these adenomas were always located in the same part of the large bowel. In 2 patients, both with one rectal adenoma and one adenoma in the colon, no karyotypic similarity between the lesions was found. Our findings indicate that whereas close, but macroscopically distinct, synchronous colorectal adenomas usually have a common pathway of progression, perhaps even the same clonal origin, large bowel adenomas at a considerable distance from one another exhibit karyotypic differences, indicating that they arise independently.
结直肠肿瘤的表型进展是由其逐步获得的基因组改变所驱动的。这些在发病机制上具有重要意义的突变同时也是肿瘤克隆性的标志物。本研究的目的是描述同步性结直肠腺瘤之间的克隆关系。对11例患者的24个结直肠腺瘤进行了染色体显带分析。在20个肿瘤中发现了克隆性染色体异常。反复出现的结构重排涉及1号、13号、17号和18号染色体。最常见的数目改变是7号、13号、20号和3号染色体增多以及18号染色体缺失。8个腺瘤有亚克隆，这是克隆进化的证据。在6例患者的肿瘤中，在不同的息肉中发现了相似的克隆；这些腺瘤总是位于大肠的同一部位。在2例患者中，1例有1个直肠腺瘤和1个结肠腺瘤，病变之间未发现核型相似性。我们的研究结果表明，尽管紧密但在宏观上不同的同步性结直肠腺瘤通常有共同的进展途径，甚至可能有相同的克隆起源，但相距较远的大肠腺瘤表现出核型差异，表明它们是独立发生的。
