Guldberg P, thor Straten P, Birck A, Ahrenkiel V, Kirkin A F, Zeuthen J
Department of Tumor Cell Biology, Danish Cancer Society, Copenhagen, Denmark.
Cancer Res. 1997 Sep 1;57(17):3660-3.
The MMAC1/PTEN gene, located at 10q23.3, is a candidate tumor suppressor commonly mutated in glioma. We have studied the pattern of deletion, mutation, and expression of MMAC1/PTEN in 35 unrelated melanoma cell lines. Nine (26%) of the cell lines showed partial or complete homozygous deletion of the MMAC1/PTEN gene, and another six (17%) harbored a mutation in combination with loss of the second allele. Mutations could also be demonstrated in uncultured tumor specimens from which the cell lines had been established, and cell lines derived from two different metastases from one individual carried the same missense mutation. Collectively, these findings suggest that disruption of MMAC1/PTEN by allelic loss or mutation may contribute to the pathogenesis or neoplastic evolution in a large proportion of malignant melanomas.
位于10q23.3的MMAC1/PTEN基因是一种在胶质瘤中常见发生突变的候选肿瘤抑制基因。我们研究了35个无关黑色素瘤细胞系中MMAC1/PTEN的缺失、突变及表达模式。其中9个（26%）细胞系显示出MMAC1/PTEN基因部分或完全纯合缺失，另外6个（17%）存在一个等位基因突变并伴有第二个等位基因的缺失。在建立这些细胞系所用的未培养肿瘤标本中也能证实存在突变，并且来自同一个体两个不同转移灶的细胞系携带相同的错义突变。总体而言，这些发现提示，等位基因缺失或突变导致的MMAC1/PTEN功能破坏可能在很大一部分恶性黑色素瘤的发病机制或肿瘤演变过程中发挥作用。
