Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma.
Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma.
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DOI：
10.1073/pnas.86.9.3247
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发表时间：
1989-05
影响因子：
11.1
通讯作者：
I. Henry;S. Grandjouan;P. Couillin;F. Barichard;C. Huerre-Jeanpierre;Thomas M Glaser;T. Philip;Lenoir Gm;Jean Louis Chaussain;Claudine Junien
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文献类型：
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作者：
I. Henry;S. Grandjouan;P. Couillin;F. Barichard;C. Huerre-Jeanpierre;Thomas M Glaser;T. Philip;Lenoir Gm;Jean Louis Chaussain;Claudine Junien
我们比较了9例遗传性肾母细胞瘤（WT）和3例家族性肾上腺皮质癌（ADCC）的体质和肿瘤基因型。由于对这些肿瘤的易感性可以在与11p13带的结构缺失（WT）和11p15.5带的结构重复（WT， ADCC）相关的畸形综合征中观察到，我们使用11p多态性标记研究了这两个候选区域。正如预期的那样，在两个家族性肾上腺皮质癌病例的肿瘤中观察到体细胞染色体事件，导致仅限于11p15.5区域的杂合性缺失。然而，令人惊讶的是，对两名与无虹膜、泌尿生殖系统异常和智力低下（WAGR综合征）相关的11p13带的体质缺失患者的WT分析显示，杂合性的缺失仅限于11p15.5区。因此，这些数据表明，观察到一个特定的杂合性损失可能不一定指向最初的萌发突变的位置。结合先前在乳腺癌和横纹肌肉瘤中11p15.5区域杂合性缺失的类似观察结果，我们的数据表明11p15.5区域可能携带非组织特异性基因，该基因可能参与遗传易感性，肿瘤进展或两者。
We have compared constitutional and tumor genotypes in nine cases of hereditary Wilms tumor (WT) and in three unrelated cases of familial adrenocortical carcinoma (ADCC). Since susceptibility to these tumors can be observed in malformation syndromes associated with a constitutional deletion of band 11p13 (WT) and with a constitutional duplication of band 11p15.5 (WT, ADCC), we investigated these two candidate regions by using 11p polymorphic markers. As expected, somatic chromosomal events, resulting in a loss of heterozygosity limited to region 11p15.5, were observed in the tumor of two familial cases of adrenocortical carcinoma. Surprisingly, however, analysis of the WT of two patients with a constitutional deletion of band 11p13, associated with aniridia, genitourinary abnormalities, and mental retardation (WAGR syndrome), revealed a loss of heterozygosity limited to region 11p15.5. These data therefore suggest that observation of a specific loss of heterozygosity may not necessarily point to the site of the initial germinal mutation. Together with previous similar observations of a loss of heterozygosity limited to 11p15.5 in breast cancer and in rhabdomyosarcoma, our data suggest that region 11p15.5 may carry a non-tissue-specific gene that could be involved in genetic predisposition, in tumor progression, or in both.