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成人睾丸生殖细胞肿瘤显示11p13和11p15.5染色体带缺失,但在肾母细胞瘤1基因的锌指区域以及外显子2和6内未发现异常。

Testicular germ cell tumors of adults show deletions of chromosomal bands 11p13 and 11p15.5, but no abnormalities within the zinc-finger regions and exons 2 and 6 of the Wilms' tumor 1 gene.

作者信息

Looijenga L H, Abraham M, Gillis A J, Saunders G F, Oosterhuis J W

机构信息

Laboratory of Patho-Oncology, Dr. Daniel den Hoed Cancer Center, Rotterdam, The Netherlands.

出版信息

Genes Chromosomes Cancer. 1994 Mar;9(3):153-60. doi: 10.1002/gcc.2870090302.

Abstract

We have studied the involvement of chromosomal bands 11p13 and 11p15.5 in 15 testicular seminomas (SE) and 18 testicular nonseminomatous germ cell tumors (NS). No allelic imbalances were found in 40% of the SE and 44% of the NS. Loss of heterozygosity (LOH) at 11p15.5 was seen in 21% of the SE and 47% of the NS; the corresponding frequencies for 11p13 were 47% and 44%. Both regions were deleted in 13% of the SE and 44% of the NS, indicating that all NS with a complete LOH of 11p13 also lost the 11p15.5 region. In one (out of two) SE and in five (out of eight) NS, this was due to at least two separate deletions. Loss of the whole p-arm was likely in one SE and two NS. No gross genomic changes of the Wilms' tumor 1 (WT1) tumor suppressor gene were found using a cDNA probe (WT33). Nor were aberrations found in the zinc-finger regions and exons 2 and 6 of this gene, using polymerase chain reaction amplification, single stranded DNA polymorphism analysis, and sequencing. We suggest that loss of genetic information from the short arm of chromosome 11, without affecting the WT1 gene in the regions studied, is relatively frequent but not crucial in the pathogenesis of testicular germ cell tumors of adults.

摘要

我们研究了11p13和11p15.5染色体带在15例睾丸精原细胞瘤(SE)和18例睾丸非精原细胞性生殖细胞肿瘤(NS)中的情况。在40%的SE和44%的NS中未发现等位基因失衡。11p15.5处的杂合性缺失(LOH)在21%的SE和47%的NS中可见;11p13的相应频率分别为47%和44%。在13%的SE和44%的NS中两个区域均缺失,这表明所有11p13完全杂合性缺失的NS也失去了11p15.5区域。在1例(共2例)SE和5例(共8例)NS中,这是由于至少两次单独的缺失所致。1例SE和2例NS可能发生了整个p臂的缺失。使用cDNA探针(WT33)未发现威尔姆斯瘤1(WT1)肿瘤抑制基因有明显的基因组变化。使用聚合酶链反应扩增、单链DNA多态性分析和测序,在该基因的锌指区域以及外显子2和6中也未发现畸变。我们认为,在不影响所研究区域WT1基因的情况下,11号染色体短臂遗传信息的丢失相对常见,但在成人睾丸生殖细胞肿瘤的发病机制中并非关键因素。

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