Assessment of the molecular heterogeneity of E-cadherin expression in invasive lobular breast cancer. Whole genome characterisation of mixed ductal lobular breast cancers

Mutations and loss of e-cadherin protein expression define the vast majority of invasive lobular carcinomas. In a subset of these cases heterogeneous expression of e-cadherin is observed either as wild-type (strong membranous) expression or aberrant expression (cytoplasmic expression). However, it is unclear as to whether the two components would be driven by distinct genetic or epigenetic alterations. Here separately analysed nine invasive lobular carcinomas with heterogeneous e-cadherin expression and identified global similarities in the lobular and ductal components.

E-钙粘蛋白（E-cadherin）的突变与表达缺失，是绝大多数浸润性小叶癌的核心分子特征。在该类癌症的部分亚组中，可观察到E-钙粘蛋白的异质性表达：既可为野生型（膜强阳性）表达，也可为异常表达（胞质表达）。然而目前尚不明确，这两种表达组分是否由不同的遗传或表观遗传改变所驱动。本研究分别对9例存在E-钙粘蛋白异质性表达的浸润性小叶癌样本进行分析，并明确了其小叶与导管组分之间存在整体的分子相似性。