Suppr超能文献

一种新型 EWSR1-MYB 融合基因在具有经典型和实性基底细胞样成分混合的侵袭性高级乳腺腺样囊性癌中的表达。

A novel EWSR1-MYB fusion in an aggressive advanced breast adenoid cystic carcinoma with mixed classical and solid-basaloid components.

机构信息

Department of Pathology, The Third Affiliated Hospital of Soochow University, Ju Qian Street 185, Changzhou, 213003, Jiangsu, China.

出版信息

Virchows Arch. 2023 Nov;483(5):717-722. doi: 10.1007/s00428-023-03500-1. Epub 2023 Jan 31.

Abstract

Breast adenoid cystic carcinoma (AdCC) with a solid-basaloid component is rare. The solid-basaloid component is usually characterized by solid nests composed of basal-like cells with marked nuclear atypia, high mitotic activity, and necrosis. Given the rarity of such tumors, information on their clinicopathological and genomic characteristics is limited. Herein, we report a case of advanced breast cancer with a poor prognosis with histological and immunohistochemical characteristics of AdCC with a solid-basaloid component. For the solid-basaloid component, fluorescence in situ hybridization (FISH) analysis revealed rearrangement of the EWSR1 and MYB genes, and immunohistochemical staining indicated MYB positivity. Next-generation sequencing-based technology revealed a novel EWSR1-MYB fusion. To our knowledge, this is the first report of an EWSR1-MYB fusion in AdCC with a solid-basaloid component and a poor prognosis. Our findings may extend the genetic understanding of AdCC and aid in the clinical diagnosis of AdCC.

摘要

乳腺腺样囊性癌(AdCC)伴实体基底样成分是罕见的。实体基底样成分通常表现为由基底样细胞组成的实性巢,这些细胞具有明显的核异型性、高有丝分裂活性和坏死。鉴于此类肿瘤的罕见性,其临床病理和基因组特征的信息有限。在此,我们报告一例高级别乳腺癌病例,其组织学和免疫组织化学特征为伴实体基底样成分的 AdCC。对于实体基底样成分,荧光原位杂交(FISH)分析显示 EWSR1 和 MYB 基因的重排,免疫组织化学染色显示 MYB 阳性。基于下一代测序的技术揭示了一种新型的 EWSR1-MYB 融合。据我们所知,这是首例报道的实体基底样成分的 AdCC 伴 EWSR1-MYB 融合和预后不良。我们的发现可能会扩展对 AdCC 的遗传理解,并有助于 AdCC 的临床诊断。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验