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YAP1 和 NUTM1 重排的毛母质癌病例:毛母质瘤和毛母质癌发病机制的最新进展及其潜在诊断应用的综述。

A case of YAP1 and NUTM1 rearranged porocarcinoma with corresponding immunohistochemical expression: Review of recent advances in poroma and porocarcinoma pathogenesis with potential diagnostic utility.

机构信息

Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA.

Geisel School of Medicine at Dartmouth, Hanover, New Hampshire, USA.

出版信息

J Cutan Pathol. 2021 Jan;48(1):95-101. doi: 10.1111/cup.13832. Epub 2020 Sep 8.

Abstract

Porocarcinoma is a rare malignant adnexal tumor with predilection for the lower extremities and the head and neck region of older adults. This entity may arise de novo or in association with a benign poroma. Porocarcinoma's non-specific clinical appearance, immunohistochemical profile, and divergent differentiation may occasionally be diagnostically challenging. Recently, highly recurrent YAP1 and NUTM1 gene rearrangements have been described in cases of poroma and porocarcinoma. In this report, we present a case of porocarcinoma with squamous differentiation in an 81-year-old woman which harbored rearrangement of the YAP1 and NUTM1 loci and was diffusely immunoreactive for NUTM1. We discuss the recent advancements in the pathogenesis of poromas and porocarcinomas with emphasis on the clinical utility of the NUTM1 antibody.

摘要

派杰氏病是一种罕见的恶性附属器肿瘤,好发于下肢和头颈部的老年人。该疾病可能是原发性的,也可能与良性的派杰氏病相关。派杰氏病的非特异性临床表现、免疫组化特征和不同的分化可能会给诊断带来一定的挑战。最近,在派杰氏病和派杰氏癌的病例中,已经描述了 YAP1 和 NUTM1 基因重排的高复发率。在本报告中,我们展示了一例 81 岁女性的伴鳞状分化的派杰氏癌,其具有 YAP1 和 NUTM1 基因位点的重排,并弥漫性地表达 NUTM1。我们讨论了派杰氏病和派杰氏癌的发病机制的最新进展,并强调了 NUTM1 抗体的临床应用。

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