Haefliger Simon, Muenst Simone, Went Philip, Bihl Michel, Dellas Sophie, Weber Walter Paul, Vlajnic Tatjana
Institute of Pathology, University Hospital Basel, Basel, Switzerland.
Institute of Pathology, Cantonal Hospital Graubuenden, Chur, Switzerland.
Mol Biol Rep. 2020 Jun;47(6):4917-4921. doi: 10.1007/s11033-020-05553-w. Epub 2020 May 30.
Tall cell carcinoma with reversed polarity (TCCRP) is a rare breast carcinoma with low malignant potential, initially named "breast tumor resembling the tall cell variant of papillary thyroid carcinoma", which has recently been recognized as a separate entity in the 5th edition of the WHO (World Health Organization) classification of breast tumors. Since the first report of this entity in 2003, more than 40 cases have been reported in the literature. Here, we report another case of this rare tumor in a 60-year-old woman. We performed immunohistochemical analyses and next-generation-sequencing (NGS) using the Oncomine™ Comprehensive DNA Panel (Thermo Fisher Scientific). The tumor showed the typical morphological features of TCCRP and a "triple-negative" phenotype. Moreover, we identified pathogenic mutations in the IDH2 (p.R172G) and PIK3CA (p.H1047R) genes. We report a case of TCCRP of the breast showing the characteristic morphologic, immunohistochemical and molecular features of this entity. There is still a limited number of cases with comprehensive molecular analyses reported in the literature. Therefore, we herewith contribute to a better understanding of the morphological and molecular characteristics as well as the clinical behavior of this rare entity.
高细胞性极性反转癌(TCCRP)是一种恶性潜能较低的罕见乳腺癌,最初被命名为“类似甲状腺乳头状癌高细胞变体的乳腺肿瘤”,最近在世界卫生组织(WHO)乳腺肿瘤分类第5版中被确认为一个独立的实体。自2003年首次报道该实体以来,文献中已报道了40多例。在此,我们报告一名60岁女性的另一例这种罕见肿瘤。我们使用Oncomine™ Comprehensive DNA Panel(赛默飞世尔科技公司)进行了免疫组织化学分析和二代测序(NGS)。该肿瘤表现出TCCRP的典型形态特征和“三阴性”表型。此外,我们在IDH2(p.R172G)和PIK3CA(p.H1047R)基因中鉴定出致病性突变。我们报告了一例具有该实体特征性形态、免疫组织化学和分子特征的乳腺TCCRP病例。文献中报道的进行全面分子分析的病例数量仍然有限。因此,我们在此有助于更好地理解这种罕见实体的形态和分子特征以及临床行为。