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基因检测确诊的结直肠癌乳腺转移:病例报告及文献复习

Breast Metastasis From Colorectal Carcinoma Identified by Gene Assay: Case Report and Review of Literature.

作者信息

Gouli Sugam, Karki Ansu, Allerton Jeffery

机构信息

Hospital Medicine, Rochester Regional Health, New York, USA.

Internal Medicine, Bassett Medical Center, Cooperstown, USA.

出版信息

Cureus. 2024 Feb 26;16(2):e54952. doi: 10.7759/cureus.54952. eCollection 2024 Feb.

Abstract

Colon cancer metastasis to the breast is a rare presentation and has a poor prognosis. Diagnosis of the primary site for the metastasis is usually aided by immunohistochemistry but can be non-conclusive. Gene expression assay can be helpful in diagnosing the primary cancer site. This is a 67-year-old female who presented with breast cancer metastasis of colorectal carcinoma origin. Immunohistochemistry was positive for cytokeratin AE1/AE3 cocktail and negative for ER, PR, CK20, CK7, CDX-2, and GATA-3, which was non-specific for any site of origin. The primary site was later identified using the gene expression assay CancerTYPE ID (BioTheranostics, Inc., San Diego, CA) which suggested likely primary was colon adenocarcinoma. This case showcases a rare presentation of colon cancer metastasis to the breasts and how gene expression assay can help us find the primary origin of cancer metastasis when we have an unclear diagnosis from immunohistochemistry.

摘要

结肠癌转移至乳腺是一种罕见的表现,预后较差。转移瘤原发部位的诊断通常借助免疫组化,但可能无法得出明确结论。基因表达检测有助于诊断原发癌部位。这是一名67岁女性,表现为源于结肠直肠癌的乳腺癌转移。免疫组化结果显示细胞角蛋白AE1/AE3混合抗体呈阳性,雌激素受体(ER)、孕激素受体(PR)、细胞角蛋白20(CK20)、细胞角蛋白7(CK7)、尾型同源盒转录因子2(CDX-2)和GATA结合蛋白3(GATA-3)呈阴性,这些结果对任何起源部位均无特异性。随后使用癌症类型鉴定基因表达检测法(CancerTYPE ID,生物治疗诊断公司,加利福尼亚州圣地亚哥)确定了原发部位,提示可能的原发灶为结肠腺癌。该病例展示了结肠癌转移至乳腺这种罕见的表现,以及当免疫组化诊断不明确时,基因表达检测如何帮助我们找到癌症转移的原发起源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7d7/10969382/da6c85d2eed3/cureus-0016-00000054952-i01.jpg

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