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与肛管鳞状细胞癌相关的分化型上皮内瘤变样病变:一例分子特征病例报告

Differentiated-Type Intraepithelial Neoplasia-Like Lesion Associated with Squamous Cell Carcinoma of the Anus: A Case Report with Molecular Profile.

作者信息

Koopmansch Caroline, Maris Calliope, Demetter Pieter, Van de Stadt Jean, Hendlisz Alain, D'Haene Nicky, Noël Jean-Christophe

机构信息

Department of Pathology, Erasme University Hospital, Free University of Brussels (ULB), Brussels, Belgium.

Department of Pathology, Jules Bordet Institute, Free University of Brussels (ULB), Brussels, Belgium.

出版信息

Case Rep Pathol. 2019 Jan 27;2019:2301640. doi: 10.1155/2019/2301640. eCollection 2019.

Abstract

Differentiated-type Intraepithelial Neoplasia (DIN) is defined as HPV-negative squamous intraepithelial proliferation with abnormal keratinocyte differentiation and basal cell atypia, originally described in the vulva, with following descriptions in the oral cavity. DIN occurring in the anus is quite rare, and to the best of our knowledge, only one publication reported it. In this report, we describe the clinicopathological features of this entity on anal margin, associated with invasive squamous cell carcinoma. In addition, using the next generation sequencing (NGS) technique, we have demonstrated TP53 mutation in the invasive component but not in the associated DIN-like lesion, where p53 immunohistochemical expression was restricted to basal layers.

摘要

分化型上皮内瘤变(DIN)被定义为HPV阴性的鳞状上皮内增生,伴有角质形成细胞分化异常和基底细胞异型性,最初在外阴被描述,随后在口腔也有相关描述。DIN发生于肛门极为罕见,据我们所知,仅有一篇文献报道过。在本报告中,我们描述了发生于肛门边缘、与浸润性鳞状细胞癌相关的该实体的临床病理特征。此外,我们使用下一代测序(NGS)技术,在浸润成分中检测到TP53突变,而在相关的DIN样病变中未检测到,在该病变中p53免疫组化表达仅限于基底层。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a05/6369487/ff156c54d240/CRIPA2019-2301640.001.jpg

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