Identification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity.
作者： Anne Vincent-Salomon , Nadège Gruel , Carlo Lucchesi , Gaëtan MacGrogan , Remi Dendale
DOI: 10.1186/BCR1666
关键词: Estrogen receptor 、 Medullary breast carcinoma 、 Breast cancer 、 Mutation 、 Carcinoma 、 Basal (phylogenetics) 、 Pathology 、 Comparative genomic hybridization 、 Cancer research 、 Biology 、 Progesterone receptor
摘要: Typical medullary breast carcinoma (MBC) has recently been recognized to be part of the basal-like spectrum, a feature in agreement with high rate TP53 mutations previously reported MBCs. The present study was therefore designed identify phenotypic and genetic alterations that distinguish MBCs from carcinomas (BLC). Expression levels estrogen receptor (ER), progesterone (PR), ERBB2, TP53, cytokeratins (KRTs) 5/6, 14, 8/18, epidermal growth factor KIT, as well gene sequence high-density array comparative genomic hybridization (CGH) profiles, were assessed compared series 33 26 BLCs. All tumors negative for ER, PR ERBB2. KRTs 5/6 more frequently expressed (94%) than BLCs (56%) (p = 0.0004). disclosed 20/26 (77%) 20/24 (83%). Array CGH analysis showed higher number gains (95 regions) losses (34 observed (36 regions gain; 13 losses). In addition, 1q 8q, X found common two groups, whereas 10p (53% cases), 9p (30.8% cases) 16q (25.8% 4p (34.8% amplicons 1q, 8p, 12p characterize MBC. Our revealed are group share BLCs, most frequent being 8q losses; however, distinct entity within characterized by KRT expression, recurrent 10p, gains, losses, amplicons. results thus contribute better understanding heterogeneity provide potential diagnostic tools.
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