作者: A Berchuck , J I Risinger , R K Dodge , J C Barrett , K Hayes
DOI:
关键词: Clear cell 、 Mutation 、 Biology 、 Missense mutation 、 Serous fluid 、 Microsatellite instability 、 Tumor suppressor gene 、 Exon 、 Cancer research 、 PTEN
摘要: Mutation of the PTEN tumor suppressor gene is a frequent event in endometrial cancers. In other types cancers, mutation has been associated with metastatic behavior and advanced stage. To examine relationship between clinical features we screened 136 cases for mutations nine exons intronic splice sites gene, using single-strand conformation analysis, aberrant bands were sequenced. Mutations noted 44 (32%) two present 8 cases. There 36 resulting truncated protein products, 6 missense phosphatase domain, 1 case an in-frame deletion, large insertion. correlated most closely endometrioid histology; seen only 5% (1 21) serous/clear cell cancers compared 37% (43 115) (P = 0.004). was early stage, nonmetastatic disease more favorable survival both entire group 115 addition, molecular behavior, including microsatellite instability absence p53 overexpression. Microsatellite found 60% 25% without Overexpression 14% to 39% 0.006). conclusion, histology pathological, clinical, rather than increased potential as some