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乳腺小叶癌样涎腺癌:1例罕见病例报告

Mammary Lobular Carcinoma-Like Salivary Gland Carcinoma: Report of a Rare Case.

作者信息

Lei Li, Van Staalduinen Eric, Troxell Megan, Ozawa Michael G, Zeineh Michael, Berry Gerald

机构信息

Department of Pathology, Stanford University Medical Center, Palo Alto, USA.

Department of Pathology, Stanford Health Care, 300 Pasteur Dr, CA, 94304, Palo Alto, USA.

出版信息

Head Neck Pathol. 2022 Mar;16(1):314-321. doi: 10.1007/s12105-021-01344-2. Epub 2021 Jun 11.

Abstract

Salivary and mammary glands are both exocrine organs sharing multiple tumorigenic processes. To the best of our knowledge, salivary gland tumors mimicking invasive lobular carcinoma of the breast have not yet been described. Herein, we report a case of a 62-year-old male who presented with progressive facial paralysis. Pathologic examination revealed an ill-defined epithelial neoplasm exhibiting discohesive growth set within an extensively fibrotic stroma. Both perineural and intraneural invasion were present. E-cadherin and p120 immunostaining showed aberrant cytoplasmic expression. Targeted next-generation sequencing detected a frameshift mutation of the CTNNA1 gene as the only known pathogenic variant. The patient was treated with surgical resection, immunotherapy, and chemotherapy. Currently, he is alive with disease twenty months after disease onset.

摘要

唾液腺和乳腺均为外分泌器官,共享多种致瘤过程。据我们所知,尚未有模仿乳腺浸润性小叶癌的唾液腺肿瘤的相关报道。在此,我们报告一例62岁男性患者,该患者出现进行性面瘫。病理检查显示为边界不清的上皮性肿瘤,呈浸润性生长,位于广泛纤维化的间质中。存在神经周围和神经内侵犯。E-钙黏蛋白和p120免疫染色显示异常的细胞质表达。靶向二代测序检测到CTNNA1基因的移码突变,这是唯一已知的致病变异。该患者接受了手术切除、免疫治疗和化疗。目前,疾病发作20个月后,他仍带瘤生存。

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