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软组织平滑肌肉瘤发生发展过程中的DNA拷贝数变化

DNA copy number changes in development and progression in leiomyosarcomas of soft tissues.

作者信息

El-Rifai W, Sarlomo-Rikala M, Knuutila S, Miettinen M

机构信息

Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.

出版信息

Am J Pathol. 1998 Sep;153(3):985-90. doi: 10.1016/S0002-9440(10)65640-4.

Abstract

DNA copy number changes were investigated in 29 leiomyosarcomas by comparative genomic hybridization. The most frequent losses were detected in 10q (20 cases, 69%) and 13q (17 cases, 59%). The most frequent gains were detected in 17p (16 cases, 55%). The most frequent high-level amplifications were detected in 17p (7 cases, 24%) and 8q (6 cases, 21%). A total of 137 losses and 204 gains were detected. Small tumors (less than 5 cm in diameter) displayed fewer changes per sample (3 to 11; mean, 7) than the other tumors (4 to 22; mean, 13). There was an increase in the number of gains from small tumors (mean, 4) to very large tumors (>20 cm; mean, 10). However, the number of losses was similar in small, large, and very large tumors (mean, 4.5). Tumor size-related aberrations were observed. Gains in 16p were detected in all small tumors but were infrequent in large and very large tumors (27% and 11%, respectively). Similarly, gains and high-level amplifications in 17p were more common in small (80%) than in very large tumors (33%). Gains in 1q, 5p, 6q, and 8q were not seen in any of the small tumors but were detected in large and very large tumors. Gains in 6q and 8q occurred in 8 of 9 cases (89%) of very large tumors, 5 of them with a high-level amplification in 8q.

摘要

通过比较基因组杂交技术,对29例平滑肌肉瘤进行了DNA拷贝数变化研究。最常见的缺失发生在10q(20例,69%)和13q(17例,59%)。最常见的增益发生在17p(16例,55%)。最常见的高水平扩增发生在17p(7例,24%)和8q(6例,21%)。共检测到137处缺失和204处增益。小肿瘤(直径小于5 cm)每个样本的变化数(3至11;平均7)少于其他肿瘤(4至22;平均13)。从小肿瘤(平均4)到非常大的肿瘤(>20 cm;平均10),增益数量有所增加。然而,小、大及非常大的肿瘤中缺失数量相似(平均4.5)。观察到与肿瘤大小相关的畸变。在所有小肿瘤中均检测到16p增益,但在大肿瘤和非常大的肿瘤中不常见(分别为27%和11%)。同样,17p增益和高水平扩增在小肿瘤(80%)中比在非常大的肿瘤(33%)中更常见。1q、5p、6q和8q增益在任何小肿瘤中均未见到,但在大肿瘤和非常大的肿瘤中检测到。6q和8q增益发生在9例非常大的肿瘤中的8例(89%),其中5例在8q有高水平扩增。

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