Identification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity.
Identification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity.
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DOI：
10.1186/bcr1666
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发表时间：
2007
期刊：
影响因子：
--
通讯作者：
Aurias A
中科院分区：
文献类型：
--
作者：
Vincent-Salomon A;Gruel N;Lucchesi C;MacGrogan G;Dendale R;Sigal-Zafrani B;Longy M;Raynal V;Pierron G;de Mascarel I;Taris C;Stoppa-Lyonnet D;Pierga JY;Salmon R;Sastre-Garau X;Fourquet A;Delattre O;de Cremoux P;Aurias A
典型的乳腺髓样癌（MBC）最近被认为是基底样癌谱的一部分，这一特征与先前报道的MBC中TP53突变的高发生率一致。因此，本研究的目的是确定表型和遗传改变，区分MBC从基底细胞样癌（BLC）。对33例乳腺癌和26例乳腺癌的雌激素受体（ER）、孕激素受体（PR）、ERBB 2、TP53、细胞角蛋白（KRTs）5/6、14、8/18、表皮生长因子受体和KIT的表达水平以及TP53基因序列和高密度阵列比较基因组杂交（CGH）谱进行了评估和比较。所有肿瘤均为ER、PR和ERBB 2阴性。KRT 56在MBC中的表达频率（94%）高于BLC（56%）（p = 0.0004）。20/26例MBC（77%）和20/24例BLC（83%）中发现TP53突变。阵列CGH分析表明，在MBC中观察到的增益（95个区域）和损失（34个区域）的数量高于BLC（36个区域的增益; 13个区域的损失）。此外，1q和8q的增加和X的丢失在两组中是共同的，而10p的增加和X的丢失在两组中是共同的。（53%的病例），9p（30.8%的病例）和16q（25.8%的案件），损失4便士1q、8p、10p和12p扩增子是MBC的遗传变异特征。我们的研究表明，MBCs属于基底细胞样组，与BLC有共同的基因组改变，最常见的是1q和8q的增加和X的丢失;然而，MBC是基底细胞样谱中的一个独特实体，其特征在于KRT 5/6表达率较高，比BLC获得和丢失率较高，复发性10p、9p和16q增加，4p丢失和1q，8p、10p和12p扩增子。因此，我们的研究结果有助于更好地了解基底样乳腺肿瘤的异质性，并提供潜在的诊断工具。
Typical medullary breast carcinoma (MBC) has recently been recognized to be part of the basal-like carcinoma spectrum, a feature in agreement with the high rate of TP53 mutations previously reported in MBCs. The present study was therefore designed to identify phenotypic and genetic alterations that distinguish MBCs from basal-like carcinomas (BLC). Expression levels of estrogen receptor (ER), progesterone receptor (PR), ERBB2, TP53, cytokeratins (KRTs) 5/6, 14, 8/18, epidermal growth factor receptor and KIT, as well as TP53 gene sequence and high-density array comparative genomic hybridization (CGH) profiles, were assessed and compared in a series of 33 MBCs and 26 BLCs. All tumors were negative for ER, PR and ERBB2. KRTs 5/6 were more frequently expressed in MBCs (94%) than in BLCs (56%) (p = 0.0004). TP53 mutations were disclosed in 20/26 MBCs (77%) and 20/24 BLCs (83%). Array CGH analysis showed that a higher number of gains (95 regions) and losses (34 regions) was observed in MBCs than in BLCs (36 regions of gain; 13 regions of losses). In addition, gains of 1q and 8q, and losses of X were found to be common to the two groups, whereas gains of 10p (53% of the cases), 9p (30.8% of the cases) and 16q (25.8% of the cases), and losses of 4p (34.8% of the cases), and amplicons of 1q, 8p, 10p and 12p were the genetic alterations found to characterize MBC. Our study has revealed that MBCs are part of the basal-like group and share common genomic alterations with BLCs, the most frequent being 1q and 8q gains and X losses; however, MBCs are a distinct entity within the basal-like spectrum, characterized by a higher rate of KRT 5/6 expression, a higher rate of gains and losses than BLCs, recurrent 10p, 9p and 16q gains, 4p losses, and 1q, 8p, 10p and 12p amplicons. Our results thus contribute to a better understanding of the heterogeneity in basal-like breast tumors and provide potential diagnostic tools.
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影响因子：
11.2
作者：
Idbaih, A;Marie, Y;Delattre, JY
通讯作者：
Delattre, JY
影响因子：
50.3
作者：
Richardson, AL;Wang, ZGC;Ganesan, S
通讯作者：
Ganesan, S
影响因子：
6.4
作者：
Fulford, L. G.;Easton, D. F.;Hanby, A.
通讯作者：
Hanby, A.
DOI：
10.1093/jnci/91.7.641
发表时间：
1999-04-07
期刊：
JOURNAL OF THE NATIONAL CANCER INSTITUTE
影响因子：
--
作者：
de Cremoux, P;Salomon, AV;Soussi, T
通讯作者：
Soussi, T
影响因子：
2
作者：
Dendale, R;Vincent-Salomon, A;Fourquet, A
通讯作者：
Fourquet, A