Costantino Corey, Thomas George V, Ryan Christopher, Coakley Fergus V, Troxell Megan L
School of Medicine, Oregon Health & Science University, Portland, OR, USA.
Department of Pathology, Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L418, Portland, OR, 97239, USA.
Int Urol Nephrol. 2016 Jan;48(1):73-7. doi: 10.1007/s11255-015-1145-3. Epub 2015 Nov 2.
Metastatic 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.
Histopathologic findings were correlated with imaging data and supplemented by a panel of immunohistochemical stains, as well as tumor sequence analysis.
Despite 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 in VHL, TP53, KDM5C, and PBRM1. 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.
This case illustrates the role of mutational analysis in carcinomas with rare or unusual presentations, such as metastatic RCC without a renal primary.
转移性肾细胞癌（RCC），若未发现肾脏原发灶，鲜有报道。我们报告一例RCC转移至双侧肾上腺和肝脏且无明显肾脏原发灶的患者。我们详细阐述了用于证实RCC诊断及指导治疗的免疫组化和分子研究。
组织病理学发现与影像学数据相关联，并辅以一组免疫组化染色及肿瘤序列分析。
尽管存在双侧肾上腺肿块且肾实质内无肿瘤，但免疫组化（RCC+/PAX2+/PAX8+/Melan-A-/SF-1-等）和分子遗传学分析证实为RCC，该患者的VHL、TP53、KDM5C和PBRM1存在突变。减瘤手术后，基于RCC诊断和分子特征，患者接受了酪氨酸激酶抑制剂（舒尼替尼）治疗，病情得以稳定。
本病例说明了突变分析在具有罕见或不寻常表现的癌症中的作用，如无肾脏原发灶的转移性RCC。
