Secretory breast carcinomas with ETV6-NTRK3 fusion gene belong to the basal-like carcinoma spectrum
Secretory breast carcinomas with ETV6-NTRK3 fusion gene belong to the basal-like carcinoma spectrum
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DOI：
10.1038/modpathol.2008.184
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发表时间：
2009-02-01
期刊：
影响因子：
7.5
通讯作者：
Vincent-Salomon, Anne
中科院分区：
文献类型：
--
作者：
Lae, Marick;Freneaux, Paul;Vincent-Salomon, Anne
分泌性乳腺癌（< 0.15% 的乳腺肿瘤）具有特征性形态和良好的预后。值得注意的是，该实体是唯一具有平衡易位 t(12; 15) 的乳腺上皮肿瘤，它产生了编码嵌合酪氨酸激酶的 ETV6-NTRK3 基因融合，细胞中胚层肾瘤和婴儿纤维肉瘤中也遇到这种情况。本研究的目的是确定分泌性乳腺癌的表型类别（即管腔 A/B、ERBB2、基底样）。我们的档案中发现了一系列六种分泌性乳腺癌。 ETV6 重排在所有情况下均通过荧光原位杂交得到证实。使用抗 ER、PR、ERBB2、KIT、EGFR、E-钙粘蛋白、波形蛋白、PS100、平滑肌肌动蛋白、基础抗体（CK5/6 和 14）、管腔细胞角蛋白（CK8/18）和 p63 抗体评估免疫表型。原位和侵入成分具有相同的免疫特征，并且 ER、PR、ERBB2 阴性，表达基础细胞角蛋白。 ETV6 基因改变同时存在于原位成分和侵入成分中，凸显了它们的遗传相似性。免疫特征数据（三阴性，表达基底标记物）显示，具有ETV6-NTRK3融合基因的分泌性乳腺癌属于乳腺癌表型基底样谱。这些结果支持这样的假设：分泌性乳腺癌具有将其与其他乳腺基底样肿瘤区分开来的免疫组织化学和遗传特征。
Secretory breast carcinomas (< 0.15% of breast tumors) are associated with a characteristic morphology and a favorable prognosis. Remarkably, this entity is the only epithelial tumor of the breast with a balanced translocation, t(12; 15), that creates an ETV6-NTRK3 gene fusion encoding chimeric tyrosine kinase also encountered in cellular mesoblastic nephroma and infantile fibrosarcoma. The aim of this study was to determine the phenotypic class (ie luminal A/B, ERBB2, basal-like) of secretory breast carcinoma. A series of six secretory breast carcinomas were identified in our files. The ETV6 rearrangement was confirmed in all cases by fluorescence in situ hybridization. Immunophenotype was assessed with anti-ER, PR, ERBB2, KIT, EGFR, E-cadherin, vimentin, PS100, smooth muscle actin, basal (CK5/6 and 14), luminal cytokeratins (CK8/18) and p63 antibodies. In situ and invasive components shared the same immunoprofile and were ER, PR, ERBB2 negative with expression of basal cytokeratins. ETV6 gene alterations were present in both in situ and invasive components, highlighting their genetic similarities. The immunoprofile data (triple-negative with expression of basal markers) showed that secretory breast carcinomas with ETV6-NTRK3 fusion gene belong to the phenotypic basal-like spectrum of breast carcinomas. These results support the hypothesis that secretory breast carcinomas have immunohistochemical and genetic features that distinguish them from other basal-like tumors of the breast.