Albarracin Constance T, Silva Elvio G, Malpica Anais, Luthra Rajalakshmi, Liu Jinsong
The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA.
Oncol Rep. 2004 Dec;12(6):1217-9.
Frequent frameshift mutations in the DNA mismatch repair genes hMSH3, and hMSH6, have been reported in colorectal and endometrial cancers with microsatellite instability, however, it is unclear whether they are similarly altered in ovarian endometrioid carcinoma. In this study, we examined frequency of frameshift mutation and protein expression in hMSH3 and hMSH6 in ovarian endometrioid carcinoma with or without microsatellite instability. Only 1 frameshift mutation of the 16 cases with microsatellite instability-high phenotype (6%) was detected in poly(A)8 tract of the hMSH3, but not in poly(C)8 tract of hMSH6 genes. In addition, none of the 6 microsatellite instability-low or 20 microsatellite-stable tumors showed mutations in these regions in either gene. These results indicate that mutations in the mono-nucleotide tracts of hMSH3 and hMSH6 are infrequent in ovarian endometrioid adenocarcinomas, other mechanisms may play a more important role in the development of these tumors.
在伴有微卫星不稳定的结直肠癌和子宫内膜癌中，已报道DNA错配修复基因hMSH3和hMSH6存在频繁的移码突变，然而，它们在卵巢子宫内膜样癌中是否同样发生改变尚不清楚。在本研究中，我们检测了伴有或不伴有微卫星不稳定的卵巢子宫内膜样癌中hMSH3和hMSH6的移码突变频率及蛋白表达情况。在16例微卫星高度不稳定表型的病例中，仅1例（6%）在hMSH3的poly(A)8区域检测到移码突变，而在hMSH6基因的poly(C)8区域未检测到。此外，6例微卫星低度不稳定或20例微卫星稳定的肿瘤在这两个基因的这些区域均未显示突变。这些结果表明，hMSH3和hMSH6单核苷酸区域的突变在卵巢子宫内膜样腺癌中并不常见，其他机制可能在这些肿瘤的发生发展中起更重要的作用。
