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采用比较基因组杂交技术检测到的肾上腺皮质肿瘤中的基因畸变与肿瘤大小及恶性程度相关。

Genetic aberrations in adrenocortical tumors detected using comparative genomic hybridization correlate with tumor size and malignancy.

作者信息

Kjellman M, Kallioniemi O P, Karhu R, Höög A, Farnebo L O, Auer G, Larsson C, Bäckdahl M

机构信息

Department of Surgery, Karolinska Hospital, Stockholm, Sweden.

出版信息

Cancer Res. 1996 Sep 15;56(18):4219-23.

PMID:8797595
Abstract

The differentiation between malignant and benign adrenocortical tumors is often difficult, and better markers are required. Because the genetic background of adrenocortical tumors is poorly characterized, we used comparative genomic hybridization (CGH) to screen for DNA sequence copy number changes in 8 sporadic primary adrenocortical cancers and 14 adenomas. There was a strong relationship between the number of genetic aberrations detected using CGH and both tumor size and malignancy. No alterations were seen in the smaller adenomas (< 5 cm), whereas the two largest adenomas (5 cm each) and seven of the eight cancers (7-20 cm) showed an increased number of genetic alterations. The presence of genetic aberrations detected using CGH was associated with an aneuploid DNA pattern. In the cancers, losses most often involved the chromosomal regions 2, 11q, and 17p (four of eight tumors), whereas gains took place at chromosomes 4 and 5 (four of eight tumors). In conclusion, our data indicate that genetic changes may help to define the malignant potential of adrenocortical tumors. Furthermore, the CGH results implicate several chromosomal regions that may contain genes with an important role in the development of adrenocortical cancers.

摘要

区分肾上腺皮质恶性肿瘤和良性肿瘤往往很困难,因此需要更好的标志物。由于肾上腺皮质肿瘤的遗传背景特征尚不明确,我们采用比较基因组杂交(CGH)技术,对8例散发性原发性肾上腺皮质癌和14例腺瘤的DNA序列拷贝数变化进行了筛查。利用CGH检测到的基因畸变数量与肿瘤大小及恶性程度之间存在密切关系。较小的腺瘤(<5 cm)未发现改变,而两个最大的腺瘤(各5 cm)以及8例癌症中的7例(7 - 20 cm)显示基因改变数量增加。利用CGH检测到的基因畸变与非整倍体DNA模式相关。在癌症中,缺失最常累及染色体区域2、11q和17p(8例肿瘤中的4例),而增益发生在染色体4和5(8例肿瘤中的4例)。总之,我们的数据表明基因变化可能有助于确定肾上腺皮质肿瘤的恶性潜能。此外,CGH结果提示了几个可能包含在肾上腺皮质癌发生中起重要作用的基因的染色体区域。

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