极性颠倒的乳腺高细胞癌--三例病例报告及文献综述。

Q4 Medicine Ceskoslovenska patologie Pub Date : 2023-01-01
Karol Kajo, Mojmír Ducár, Ján Dzuracký, Katarína Kajová Macháleková, Miroslava Vallová, Csaba Biró, Lukáš Šebest, Tomáš Slamka, Regína Behulová Lohajová, Pavol Žúbor
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引用次数: 0

摘要

反极性高细胞癌(TCCRP)是一种罕见的特殊类型乳腺上皮肿瘤,表现为核极性相反的柱状细胞、实性和实性乳头状结构,以及频繁的 IDH2 基因改变。在此,作者介绍了三例 TCCRP 病例,患者分别为 56、66 和 67 岁的女性,肿瘤最大尺寸分别为 29 毫米、10 毫米和 8 毫米。肿瘤显示出 TCCRP 的组织形态学特征,肿瘤细胞的免疫组化图谱显示 CK7、CK5/6、GCDFP15、mammaglobin、GATA3 和 calretinin 阳性表达,而 CK14、p63、TTF1、甲状腺球蛋白和神经内分泌标记物阴性。两个肿瘤为三阴性,一个肿瘤仅有微弱的局灶ER表达,PR和HER2阴性。利用 NGS 技术,在所有三个肿瘤中都检测到了 IDH2 基因突变热点区 p.R172 的致病体细胞变异。此外,在其中两个肿瘤中,还发现了 PIK3CA 最常见的致病变异 p.E545A 和 p.H1047R。TCCRP 是一种罕见的低恶性乳腺肿瘤,由于其组织形态学、免疫组织化学和分子遗传学特征更加明确,其发病率很可能会增加。
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Tall cell carcinoma of the breast with reversed polarity - a report of three cases with a review of the literature.

Tall cell carcinoma with reverse polarity (TCCRP) is a rare special type of breast epithelial neoplasm presented by columnar cells with opposite nuclear polarity, solid and solid-papillary architecture, and frequent IDH2 gene alterations. Hereby, the authors present three cases of TCCRP in women aged 56, 66 and 67 years with maximum tumour sizes of 29 mm, 10 mm and 8 mm. Tumours showed histomorphological characteristics of TCCRP supported by immunohistochemical profile of tumour cells, in which positive expression of CK7, CK5/6, GCDFP15, mammaglobin, GATA3 and calretinin and negativity of CK14, p63, TTF1, thyroglobulin and neuroendocrine markers were demonstrated. Two tumours were triple negative, and in one tumour, only weak focal ER expression was noted along with PR and HER2 negativity. Pathogenic somatic variants in mutational hotspot region p.R172 in IDH2 gene were detected using NGS technology in all three tumours. Moreover, in two of these tumours, the most common pathogenic variants p.E545A and p.H1047R of PIK3CA were identified. TCCRP represents a rare breast neoplasm of low malignant potential, the incidence of which will probably increase due to the more clearly defined histomorphological, immunohistochemical and molecular-genetic characteristics, which were all responsible for including this entity into the 5th edition of WHO classification breast tumours.

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来源期刊
Ceskoslovenska patologie
Ceskoslovenska patologie Medicine-Medicine (all)
CiteScore
0.40
自引率
0.00%
发文量
17
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