通过比较基因组杂交和间期细胞遗传学检测平滑肌肉瘤的染色体失衡。

M Otaño-Joos, G Mechtersheimer, S Ohl, K K Wilgenbus, W Scheurlen, T Lehnert, F Willeke, H F Otto, P Lichter, S Joos
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摘要

平滑肌肉瘤包括一组具有平滑肌分化的恶性软组织肿瘤。本研究采用比较基因组杂交技术对14例平滑肌肉瘤的相对染色体拷贝数变化进行了筛选。大量的不平衡(平均16.3;范围,6-26),染色体获得发生大约是损失的两倍。最常见的增益出现在5p15、8q24、15q25- >q26、17p和Xp(43%至50%),而最常见的损失出现在10q和13q(分别为50%和78%)。在9种不同的肿瘤中检测到影响15个不同染色体亚区的20个高水平扩增。在3例平滑肌肉瘤中,发现染色体臂17p上的序列高度扩增,17p12- >p11亚带上有极小的重叠区域。我们进一步发现,Smith-Magenis综合征17p11.2的关键区域包含在两个平滑肌肉瘤病例的17p扩增子中。在这一基因不稳定区域两侧使用探针,通过荧光原位杂交在两种平滑肌肉瘤中分别检测到平均每个细胞核14和22个信号。总之,该分析确定了平滑肌肉瘤中一些特征性的染色体失衡,并为平滑肌肉瘤基因组中潜在的致癌基因和肿瘤抑制基因的定位提供了证据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Detection of chromosomal imbalances in leiomyosarcoma by comparative genomic hybridization and interphase cytogenetics.

Leiomyosarcomas comprise a group of malignant soft-tissue tumors with smooth-muscle differentiation. In this study, 14 cases of leiomyosarcoma were screened for changes in relative chromosome copy number by comparative genomic hybridization. A high number of imbalances (mean, 16.3; range, 6-26) was detected, with chromosomal gains occurring about twice as much as losses. The most frequent gains were found in 5p15, 8q24, 15q25-->q26, 17p, and Xp (43% to 50%), whereas the most frequent losses were found in 10q and 13q (50% and 78%, respectively). Twenty high-level amplifications affecting 15 different chromosomal subregions were detected in nine different tumors. In three leiomyosarcomas, sequences on chromosome arm 17p were found to be highly amplified, with a minimal overlapping region on subbands 17p12-->p11. We further discovered that the Smith-Magenis syndrome critical region on 17p11.2 is included in the 17p amplicons of two leiomyosarcoma cases. Using probes flanking this genetically unstable region, a mean of 14 and 22 signals per nucleus, respectively, was detected in both leiomyosarcomas by fluorescence in situ hybridization. In conclusion, this analysis identifies a number of characteristic chromosomal imbalances in leiomyosarcomas and provides evidence for the localization of potential oncogenes and tumor suppressor genes active in leiomyosarcoma genomes.

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