Michelucci Angela, Di Cristofano Claudio, Lami Azzurra, Collecchi Paola, Caligo Adelaide, Decarli Nicola, Leopizzi Martina, Aretini Paolo, Bertacca Gloria, Porta Romana Prosperi, Ricci Sergio, Della Rocca Carlo, Stanta Giorgio, Bevilacqua Generoso, Cavazzana Andrea
Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa, University Hospital of Pisa, Italy.
Diagn Mol Pathol. 2009 Dec;18(4):200-5. doi: 10.1097/PDM.0b013e31818e5fa4.
The PI3K-Akt cascade is a key signaling pathway involved in cell proliferation, survival, and growth. Activating PIK3CA mutations have been reported in breast carcinoma (BC). The aim of this study was to characterize the PIK3CA mutations at exons 9 and 20 in a series of 176 sporadic and 22 hereditary BCs and to correlate the results with clinicopathologic parameters and survival. In sporadic BC, 68 missense mutations were detected. PIK3CA mutations were significantly associated with ER+ in HER2-negative cases. A higher frequency of PIK3CA mutations was present in lobular carcinoma compared with ductal carcinoma (50% vs. 35%). There was no association between the survival and PIK3CA mutational status. In hereditary BC, PIK3CA mutations were found only in the BRCA2 group. The PIK3CA mutation seems to characterize the luminal-type BC, in both sporadic and BRCA2 mutated forms, and is absent in the basal-type BC, in both the sporadic and BRCA1 mutated forms.
PI3K-Akt级联反应是参与细胞增殖、存活和生长的关键信号通路。乳腺癌（BC）中已报道存在激活型PIK3CA突变。本研究的目的是对176例散发性和22例遗传性BC患者的9号和20号外显子的PIK3CA突变进行特征分析，并将结果与临床病理参数及生存情况相关联。在散发性BC中，检测到68个错义突变。在HER2阴性病例中，PIK3CA突变与雌激素受体阳性显著相关。与导管癌相比，小叶癌中PIK3CA突变的频率更高（50%对35%）。生存情况与PIK3CA突变状态之间无关联。在遗传性BC中，仅在BRCA2组中发现了PIK3CA突变。PIK3CA突变似乎是散发性和BRCA2突变型管腔型BC的特征，而在散发性和BRCA1突变型基底型BC中均不存在。
