Simon Frank, Johnen Georg, Krismann Michael, Müller Klaus-Michael
Institut für Pathologie der Ruhr-Universität Bochum an den Berufsgenossenschaftlichen Kliniken Bergmannsheil, Bürkle-de-la-Camp-Platz 1, 44789, Bochum, Germany.
Virchows Arch. 2005 Oct;447(4):762-7. doi: 10.1007/s00428-005-0005-4. Epub 2005 Oct 19.
In a case of a 67-year-old man with two different early stages of a predominantly epithelioid mesothelioma ("mesothelioma in situ", "early-stage mesothelioma"), chromosomal imbalances were determined by comparative genomic hybridisation (CGH), a molecular cytogenetic technique to detect chromosomal gains and losses in tumour cells. In the case of the mesothelioma in situ cells, nine different chromosomal alterations could be detected (losses on 3p, 5q, 6q, 8p, 9p, 15q, 22q, Y; gain on 7q), whereas the early-stage mesothelioma showed the same defects except for the gain on 7q. The simultaneous losses of 6q, 9p and 22q, as well as other chromosomal regions, correlate well with the most common defects previously found in 90 cases of more-advanced-stage mesotheliomas using CGH. These data demonstrate that initial chromosomal defects in early stages of mesotheliomas can be detected by conventional CGH in combination with laser microdissection. The molecular cytogenetic findings support the histological diagnosis of a pleural mesothelioma. The surprisingly high number and extent of genomic alterations found in the examined case probably reflects the genomic instability in the tumour cells and indicates a "genetic chaos" even in earlier stages of malignant mesotheliomas.
在一名67岁男性患者中，其患有两种不同早期阶段的主要为上皮样间皮瘤（“原位间皮瘤”、“早期间皮瘤”），通过比较基因组杂交（CGH）确定了染色体失衡情况。CGH是一种分子细胞遗传学技术，用于检测肿瘤细胞中的染色体增减。在原位间皮瘤细胞中，可检测到9种不同的染色体改变（3p、5q、6q、8p、9p、15q、22q、Y染色体缺失；7q染色体增加），而早期间皮瘤除7q染色体增加外，显示出相同的缺陷。6q、9p和22q以及其他染色体区域的同时缺失，与先前使用CGH在90例更晚期间皮瘤中发现的最常见缺陷密切相关。这些数据表明，间皮瘤早期的初始染色体缺陷可通过传统CGH结合激光显微切割检测到。分子细胞遗传学结果支持胸膜间皮瘤的组织学诊断。在所检查病例中发现的基因组改变数量之多和程度之高令人惊讶，这可能反映了肿瘤细胞中的基因组不稳定性，并表明即使在恶性间皮瘤的早期阶段也存在“遗传混乱”。
