Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines
Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines
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DOI：
10.1038/sj.onc.1201881
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发表时间：
1998-07-02
期刊：
影响因子：
8
通讯作者：
Haluska, FG
中科院分区：
文献类型：
--
作者：
Tsao, HS;Zhang, X;Haluska, FG
最近已显示出一种新型的肿瘤抑制基因PTEN/MMAC1在神经胶质瘤，乳腺癌，前列腺，肾脏癌和黑色素瘤中突变，黑色素瘤中的杂合性研究表明至少存在一个至少一个染色体10q losus 10q losus丧失了早期的染色体。在肿瘤进展中。在这项研究中，我们使用PCR-SSCP和直接测序筛选了45个黑色素瘤细胞系和17种配对的未培养转移性黑色素瘤和外围血液样本，用于PTEN/MMAC1改变。我们发现了九种具有纯合缺失（五个具有基因内损失）的黑色素瘤细胞系和突变的四个细胞系（一个废话和1个移状；两个内含子）；从我们未培养的黑色素瘤标本中，我发现了一个肿瘤在外显子7中具有17 bp重复的肿瘤，导致过早的停止密码子和一个可能纯合缺失的肿瘤。此外，我们还确定了PTEN/MMAC1内含子4中的一种新颖的基因内多态性。综上所述，这些数据表明PTEN/MMAC1可能是对Turner Turner形成或进展重要的10q肿瘤抑制染色体抑制剂。
A novel tumor suppressor gene, PTEN/MMAC1, has been recently shown to be mutated in gliomas, breast, prostate, kidney cancers and melanomas, Loss-of-heterozygosity studies in melanoma have suggested the presence of at least one chromosome 10q locus lost early in tumor progression. In this study, we screened 45 melanoma cell lines and 17 paired uncultured metastatic melanoma and peripheral blood specimens for PTEN/MMAC1 alterations using PCR-SSCP and direct sequencing. We found nine melanoma cell lines with homozygous deletions (five with intragenic loss) and four cell lines with mutations (one nonsense and one frameshift; two intronic); from among our uncultured melanoma specimens, me found one tumor with a somatic 17 bp duplication in exon 7 leading to a premature stop codon and one tumor with a possible homozygous deletion. Furthermore, we ha ce identified a novel intragenic polymorphism within intron 4 of PTEN/MMAC1. Taken together, these data suggest that PTEN/MMAC1 may be a chromosome 10q tumor suppressor important in melanoma turner formation or progression.