Aalto Y, Nordling S, Kivioja A H, Karaharju E, Elomaa I, Knuutila S
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Genes Chromosomes Cancer. 1999 Jun;25(2):104-7.
Chromosomal imbalances were studied by comparative genomic hybridization (CGH) on 27 specimens from 24 patients with plasmacytoma. All the specimens exhibited DNA copy number changes (mean, 7.7 aberrations/tumor; range, 2-15). The most recurrent change involved losses at 13q, found in 19 out of 24 patients. Other frequent losses were at 1p (42%), 14q (33%), X (33%), 8p (25%), and 6q (25%). Gains were frequent at 19p (58%), 9q (58%), 1q (58%), 7p (42%), 11q (38%), 15 (33%), 6p (25%), 8q (25%), and 5p (21%). High-level copy number increases were found at 1q, 5, 7, 8q, 9q, 11q, 15, and 19. The findings of highly recurrent chromosomal imbalances in plasmacytomas confirm the analytical power of CGH to detect chromosomal abnormalities in malignancies characterized by low mitotic activity. Our most striking finding, the losses in chromosome 13, provides a basis to investigate the role of the 13q loss in the tumorigenesis and progression of plasmacytoma and to evaluate the prognostic significance of this loss.
通过比较基因组杂交（CGH）对来自24例浆细胞瘤患者的27个标本进行了染色体失衡研究。所有标本均显示出DNA拷贝数变化（平均每个肿瘤7.7个畸变；范围为2 - 15个）。最常见的变化是13q缺失，在24例患者中有19例出现。其他常见缺失位于1p（42%）、14q（33%）、X（33%）、8p（25%）和6q（25%）。增益常见于19p（58%）、9q（58%）、1q（58%）、7p（42%）、11q（38%）、15（33%）、6p（25%）、8q（25%）和5p（21%）。在1q、5、7、8q、9q、11q、15和19发现了高水平的拷贝数增加。浆细胞瘤中高度复发的染色体失衡结果证实了CGH在检测以低有丝分裂活性为特征的恶性肿瘤中的染色体异常方面的分析能力。我们最显著的发现，即13号染色体缺失，为研究13q缺失在浆细胞瘤发生和发展中的作用以及评估这种缺失的预后意义提供了依据。
