Resolving quandaries: basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing.
Resolving quandaries: basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing.
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DOI：
10.1111/his.12735
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发表时间：
2016-01
期刊：
影响因子：
6.4
通讯作者：
Weigelt B
中科院分区：
文献类型：
--
作者：
Fusco N;Colombo PE;Martelotto LG;De Filippo MR;Piscuoglio S;Ng CK;Lim RS;Jacot W;Vincent-Salomon A;Reis-Filho JS;Weigelt B
本研究的目的是对乳腺圆柱瘤进行全外显子组测序分析，并研究分子分析在乳腺圆柱瘤（一种显示MYB表达和CYLD基因突变的良性肿瘤）与其主要鉴别诊断乳腺实性基底细胞样腺样囊性癌（一种恶性肿瘤，其特征在于存在MYB-NFIB融合基因和MYB过表达。一位66岁女性在乳房X光检查时发现右乳房有不规则致密阴影，因此接受象限切除术。组织学上，肿瘤表现出的特点提示一个固体基底细胞样变体的腺样囊性癌与圆筒瘤的鉴别诊断。荧光原位杂交，逆转录PCR，免疫组织化学和全外显子组测序显示MYB-NFIB融合基因的缺失，低水平的MYB蛋白表达和克隆体细胞CYLD剪接位点突变与野生型等位基因的杂合性丢失相关。组织学、免疫组化和分子分析的结果与乳腺圆柱瘤的诊断一致，提供了一个原则证明，即组织病理学和分子方法的整合可以帮助区分低恶性潜能和良性三阴性乳腺肿瘤。
The aims of this study were to perform a whole-exome sequencing analysis of a breast cylindroma and to investigate the role of molecular analyses in the differentiation between breast cylindroma, a benign tumor that displays MYB expression and CYLD gene mutations, and its main differential diagnosis, the breast solid-basaloid adenoid cystic carcinoma, a malignant tumor that is characterized by the presence of the MYB-NFIB fusion gene and MYB overexpression. A 66-year old female underwent quadrantectomy after an irregular dense shadow was discovered in the right breast at the screening mammogram. Histologically, the tumor displayed features suggestive of a solid-basaloid variant of adenoid cystic carcinoma with a differential diagnosis of cylindroma. Fluorescence in situ hybridization, reverse transcription PCR, immunohistochemistry and whole-exome sequencing revealed absence of the MYB-NFIB fusion gene, low levels of MYB protein expression and a clonal somatic CYLD splice site mutation associated with loss of heterozygosity of the wild-type allele. The results of the histologic, immunohistochemical and molecular analyses were consistent with a diagnosis of breast cylindroma, providing a proof-of-principle that the integration of histopathologic and molecular approaches can help differentiate between a low-malignant potential and a benign breast tumor of triple-negative phenotype.