肾母细胞瘤患者正常组织中的基因镶嵌现象。

Genetic mosaicism in normal tissues of Wilms' tumour patients.

作者信息

Chao L Y, Huff V, Tomlinson G, Riccardi V M, Strong L C, Saunders G F

机构信息

Department of Biochemistry and Molecular Biology, University of Texas M.D. Anderson Cancer Center, Houston 77030.

出版信息

Nat Genet. 1993 Feb;3(2):127-31. doi: 10.1038/ng0293-127.

DOI:10.1038/ng0293-127

PMID:8388768

Abstract

We describe the partial loss of heterozygosity (LOH) at chromosome 11p loci in normal tissues (normal kidney and/or blood) from four of 67 Wilms' tumour patients. Autologous tumour DNA showed complete loss of the same, maternally derived, alleles. These observations indicate that the normal tissues were mosaic for cells heterozygous and homozygous for 11p markers and that tumours subsequently developed from the homozygous cells that had undergone an 11p somatic recombination event. We suggest that LOH for 11p alleles is compatible with normal growth and differentiation and is significant pathologically only when accompanied by other genetic alterations.

摘要

我们描述了67例威尔姆斯瘤患者中4例患者正常组织（正常肾脏和/或血液）11号染色体短臂位点杂合性部分缺失（LOH）的情况。自体肿瘤DNA显示相同的母源等位基因完全缺失。这些观察结果表明，正常组织中11号染色体短臂标记杂合和纯合的细胞呈镶嵌性，肿瘤随后由经历了11号染色体短臂体细胞重组事件的纯合细胞发展而来。我们认为，11号染色体短臂等位基因的杂合性缺失与正常生长和分化相容，仅在伴有其他基因改变时才具有显著病理学意义。