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直肠肿瘤 BRAF V600E 突变致乳腺转移:病例报告并文献复习

Breast metastasis from rectal cancer with BRAF V600E mutation: a case report with a review of the literature.

机构信息

Department of Gastroenterology and Hepatology, National Hospital Organization, Osaka National Hospital, 2-1-14, Hoenzaka, Chuo-ku, Osaka, Osaka, 540-0006, Japan.

Department of Surgery, National Hospital Organization, Osaka National Hospital, Osaka, Japan.

出版信息

Clin J Gastroenterol. 2020 Apr;13(2):153-157. doi: 10.1007/s12328-019-01035-0. Epub 2019 Sep 3.

Abstract

Metastasis of rectal cancer to the breast is an extremely rare clinical event. We report the case of a 67-year-old woman with a metastatic breast tumor derived from a BRAF V600E mutant rectal carcinoma that was diagnosed and resected curatively 1 year previously. Computed tomography showed a left breast mass and multiple lung nodules suspected to be indicative of recurrent rectal cancer. The ultrasonography examination demonstrated a 10 × 10-mm hypoechoic solid lesion in the left breast with an elevation in the serum carcinoembryonic antigen level and serum carbohydrate antigen 19-9 level. Core needle biopsy was performed, and histopathologic examination showed Cytokeratin 20 and CDX-2 positivity, compatible with rectal cancer. To our knowledge, this is the first case of a metastatic breast tumor arising from rectal carcinoma with BRAF mutation. Although breast metastasis is very rare event, the possibility of breast metastasis from extra mammary sites should be considered when the breast tumor is found in cancer treatment.

摘要

直肠肿瘤转移至乳腺是一种极为罕见的临床事件。我们报告了 1 例 67 岁女性病例,其 1 年前曾被诊断并通过手术治愈过 BRAF V600E 突变的直肠腺癌转移至乳腺的肿瘤。计算机断层扫描显示左乳房肿块和多个肺部结节,疑似为复发性直肠肿瘤。超声检查显示左乳房有一个 10×10mm 的低回声实性病变,血清癌胚抗原和血清糖抗原 19-9 水平升高。进行了空心针活检,组织病理学检查显示细胞角蛋白 20 和 CDX-2 阳性,符合直肠肿瘤。据我们所知,这是首例 BRAF 突变的直肠腺癌转移至乳腺的病例。尽管乳腺转移是一种非常罕见的事件,但在癌症治疗中发现乳腺肿瘤时,应考虑来自乳腺外部位的乳腺转移的可能性。

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