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类似甲状腺乳头状癌高细胞变体的乳腺肿瘤:通过二代测序进行分子特征分析及与甲状腺高细胞乳头状癌的组织病理学比较

Breast Tumor Resembling the Tall Cell Variant of Papillary Thyroid Carcinoma: Molecular Characterization by Next-Generation Sequencing and Histopathological Comparison With Tall Cell Papillary Carcinoma of Thyroid.

作者信息

Zhong Elaine, Scognamiglio Theresa, D'Alfonso Timothy, Song Wei, Tran Hung, Baek Inji, Hoda Syed A

机构信息

Weill Cornell Medicine, New York, NY, USA.

Memorial Sloan Kettering Cancer Center, New York, NY, USA.

出版信息

Int J Surg Pathol. 2019 Apr;27(2):134-141. doi: 10.1177/1066896918800779. Epub 2018 Sep 18.

Abstract

Recent publications have brought attention to the histopathological, immunohistochemical, and molecular aspects of the rare breast tumor resembling the tall cell variant of papillary thyroid carcinoma (BrTC). Nine archived cases of this entity were retrieved, reviewed, and compared with randomly selected tall cell variants of papillary thyroid carcinoma (ThTC). Seven of the BrTC cases as well as 5 cases of solid papillary carcinoma of breast were analyzed by Oncomine next-generation sequencing. BrTC and ThTC were histologically distinguishable by the presence of solid architecture, luminal histiocytes, and reverse polarity in the former, and psammoma bodies, giant cells, and optically clear nuclei in the latter. Sequencing revealed R172 single-nucleotide variants in all 7 BrTCs, 6 of which had concurrent mutations. None of the conventional solid papillary carcinomas demonstrated mutation. BrTC bears superficial resemblance to other papillary tumors but is unique in terms of histology and molecular profile.

摘要

近期的出版物已引起人们对一种罕见乳腺肿瘤的组织病理学、免疫组织化学及分子学方面的关注,该肿瘤类似于甲状腺乳头状癌高细胞变体(BrTC)。检索并回顾了9例存档的该实体病例,并与随机选取的甲状腺乳头状癌高细胞变体(ThTC)进行比较。对7例BrTC病例以及5例乳腺实性乳头状癌病例进行了Oncomine二代测序分析。BrTC和ThTC在组织学上可通过以下特征区分:前者存在实性结构、管腔内组织细胞及极性反转,而后者存在砂粒体、巨细胞及透明核。测序显示,所有7例BrTC均存在R172单核苷酸变体,其中6例同时发生了突变。常规实性乳头状癌均未显示出突变。BrTC与其他乳头状肿瘤表面相似,但在组织学和分子特征方面具有独特性。

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