Department of Pathology, The Third Affiliated Hospital of Soochow University, Ju Qian Street 185, Changzhou, 213003, Jiangsu, China.
Virchows Arch. 2023 Nov;483(5):717-722. doi: 10.1007/s00428-023-03500-1. Epub 2023 Jan 31.
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.
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。