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病例报告:免疫和分子特征分析——同时患有子宫内膜癌肉瘤的浸润性小叶癌的独特表现,并接受免疫治疗。

Case report: Characterization of the immunologic and molecular landscape in a unique presentation of invasive lobular carcinoma with concurrent uterine carcinosarcoma treated with immunotherapy.

机构信息

Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, The Ohio State University Comprehensive Cancer Center/James Cancer Hospital, Columbus, OH, United States.

The Ohio State University, Columbus, OH, United States.

出版信息

Front Immunol. 2024 Jul 15;15:1422342. doi: 10.3389/fimmu.2024.1422342. eCollection 2024.

Abstract

Invasive lobular breast cancer (ILC) is characterized by a relatively high risk for late recurrence and a unique metastatic pattern with an increased risk for metastasis to gynecologic organs and peritoneum. We present a unique case of recurrent ILC with metastasis to the abdominal peritoneum as well as the uterine myometrium and cervix. Treatment was complicated by the discovery of concomitant uterine carcinosarcoma. This patient was effectively treated with a combination of hormonal therapy for her metastatic ILC and a combination of chemotherapy and immunotherapy for uterine carcinosarcoma. Molecular evaluation revealed a characteristic mutation within the ILC and a mutation within the uterine carcinosarcoma, both of which have been linked to epithelial-to-mesenchymal transitions. Examination of the tumor immune microenvironment revealed proportionally more cytotoxic NK cells. This robust immune infiltration may be an indicator of the response to immunotherapy observed in this tumor or a result of the metastatic breast cancer within the uterus. This report provides a characterization of the molecular and immunologic landscape in this case with metastatic ILC and uterine carcinosarcoma.

摘要

浸润性小叶乳腺癌(ILC)的特点是复发风险相对较高,转移模式独特,增加了转移至妇科器官和腹膜的风险。我们报告了一例浸润性小叶乳腺癌复发并转移至腹膜以及子宫肌层和宫颈的独特病例。同时发现子宫癌肉瘤使治疗变得复杂。该患者通过联合激素治疗转移性 ILC 和联合化疗和免疫疗法治疗子宫癌肉瘤,得到了有效治疗。分子评估显示 ILC 内存在特征性 突变,子宫癌肉瘤内存在 突变,两者均与上皮-间充质转化有关。对肿瘤免疫微环境的检查显示,细胞毒性 NK 细胞比例更高。这种强大的免疫浸润可能是该肿瘤观察到的免疫治疗反应的指标,也可能是子宫内转移性乳腺癌的结果。本报告提供了一例转移性 ILC 和子宫癌肉瘤的分子和免疫特征描述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7f24/11284112/318f7349f8b0/fimmu-15-1422342-g001.jpg

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