Metastatic renal cell carcinoma without evidence of a renal primary.
Metastatic renal cell carcinoma without evidence of a renal primary.
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无肾原发证据的转移性肾细胞癌。
DOI：
10.1007/s11255-015-1145-3
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发表时间：
2016
影响因子：
2
通讯作者：
Troxell,MeganL
中科院分区：
文献类型：
--
作者：
Costantino,Corey;Thomas,GeorgeV;Ryan,Christopher;Coakley,FergusV;Troxell,MeganL
目的：转移性肾细胞癌（RCC），没有明确的肾脏原发灶，很少被报道。我们报告一个肾细胞癌转移到双侧肾上腺和肝脏的患者，没有明显的肾脏原发灶。我们详细介绍了用于证实RCC诊断和直接治疗的免疫组织化学和分子研究。方法将组织学检查结果与影像学资料相结合，辅以免疫组化染色和肿瘤序列分析。结果尽管存在双侧肾上腺肿块和肾实质内没有肿瘤，但RCC的诊断是通过免疫组织化学（RCC+/PAX2+/PAX8+/Melan-A−/SF-1−等）和分子遗传学分析得到证实的，其中包含inVHL、TP53、KDM5C和pbrm1突变。减体积手术后，基于RCC的诊断和分子谱，患者接受酪氨酸激酶抑制剂（舒尼替尼）治疗，导致疾病稳定。结论：本病例说明了突变分析在罕见或不寻常表现的癌中的作用，如无肾原发的转移性肾细胞癌。
PurposeMetastatic renal cell carcinoma (RCC), without an identified kidney primary, has been reported rarely. We report a patient with RCC metastatic to bilateral adrenal glands and liver, without an apparent renal primary. We detail the immunohistochemical and molecular studies employed to substantiate the diagnosis of RCC and direct therapy.MethodsHistopathologic findings were correlated with imaging data and supplemented by a panel of immunohistochemical stains, as well as tumor sequence analysis.ResultsDespite the presence of bilateral adrenal masses and lack of tumor within kidney parenchyma, the diagnosis of RCC was substantiated by immunohistochemistry (RCC+/PAX2+/PAX8+/Melan-A−/SF-1− among others) and molecular genetic analysis, harboring mutations inVHL,TP53,KDM5C, andPBRM1. After debulking surgery, based on the diagnosis of RCC and the molecular profile, the patient was treated with a tyrosine kinase inhibitor (sunitinib), resulting in stablilization of disease.ConclusionsThis case illustrates the role of mutational analysis in carcinomas with rare or unusual presentations, such as metastatic RCC without a renal primary.