Hennig Y, Deichert U, Bonk U, Thode B, Bartnitzke S, Bullerdiek J
Center of Human Genetics, University of Bremen, Leobener Str. ZHG, D-28359 Bremen, Germany.
Mol Hum Reprod. 1999 Dec;5(12):1150-4. doi: 10.1093/molehr/5.12.1150.
Cytogenetically, uterine leiomyomata are the best investigated human tumours. The most frequent clonal abnormalities are structural rearrangements involving 12q14-15 and deletions of part of the long arm of chromosome 7. The present study investigated a possible growth advantage conferred by these abnormalities, when compared with myomata having an apparently normal karyotype. A total of 155 myomata were included in the study. All samples were obtained after hysterectomy enabling karyotype analysis of all detectable tumours. Myomata with clonal chromosome abnormalities were significantly larger than those with a normal karyotype (6.8 +/- 5.3 versus 3.4 +/- 2.1 cm; P < 0.001). However, when differentiating between the two main aberrations, this was found to be true for the myomata with 12q14-15 changes affecting the high mobility group protein IC (HMGIC) gene (8.9 +/- 5.6 cm), but not for the group of tumours characterized by deletions of chromosome 7 (3.5 +/- 2.0 cm). The results are compatible with the hypothesis that myomata develop due to an unknown event, whereas the chromosomal abnormalities act as secondary changes, with those affecting the HMGIC gene increasing the growth potential of the corresponding tumours.
在细胞遗传学方面，子宫平滑肌瘤是研究最为充分的人类肿瘤。最常见的克隆异常是涉及12q14 - 15的结构重排以及7号染色体长臂部分片段的缺失。本研究调查了与核型明显正常的肌瘤相比，这些异常是否赋予了生长优势。该研究共纳入了155个肌瘤。所有样本均在子宫切除术后获取，以便对所有可检测到的肿瘤进行核型分析。具有克隆染色体异常的肌瘤明显大于核型正常的肌瘤（分别为6.8±5.3厘米和3.4±2.1厘米；P < 0.001）。然而，在区分两种主要畸变时，发现对于影响高迁移率族蛋白IC（HMGIC）基因的12q14 - 15改变的肌瘤（8.9±5.6厘米）确实如此，但对于以7号染色体缺失为特征的肿瘤组（3.5±2.0厘米）并非如此。这些结果与以下假设相符：肌瘤是由于未知事件发展而来，而染色体异常则作为继发性改变，其中影响HMGIC基因的异常增加了相应肿瘤的生长潜能。
