疑似Von Hippel-Lindau综合征的肾透明细胞癌脑转移一例

A case of brain metastasis of renal clear cell carcinoma suspected of Von Hippel-Lindau syndrome

目的报道1例疑似Von Hippel-Lindau(VHL)综合征的肾透明细胞癌脑转移病例,探讨其鉴别诊断。方法搜集本科收治的1例肾透明细胞癌单发脑转移患者的临床资料,结合影像学检查、术中所见及术后病理以及VHL基因MLPA(多重连接探针扩增技术)检测结果,与VHL综合征进行鉴别。结果通过对肾透明细胞癌单发脑转移的1例术前临床表现、影像学检查及既往病史综合分析,最终结合术后病理结果及VHL基因MLPA检测与VHL综合征相鉴别,排除了VHL综合征,确诊为肾透明细胞癌脑转移。结论肾透明细胞癌脑转移与VHL综合征在临床表现及影像学表现有众多极似之处,需详细分析患者既往史及家族史,并结合基因检测等手段及术后病理与之进行鉴别。

Objective To report the one case of renal clear cell carcinoma brain metastases suspected of Von Hippel-Lindau( VHL) syndrome and to explore its differential diagnosis. Method To collect the clinical data of a single brain metastasis patient with renal clear cell carcinoma in our department, combined with imaging examination, intraoperative findings and postoperative pathology, and the detection results of VHL gene MLPA( multiple ligation probe amplification technology). VHL syndrome is identified. Results Although the preoperative clinical manifestations, imaging examinations, and past medical history were comprehensively analyzed, the final diagnosis arrived at renal clear cell carcinoma brain metastases and not VHL syndrome, combined with postoperative pathological findings and VHL gene MLPA detection. Conclusion There are many similarities in the clinical manifestations and imaging features between renal clear cell carcinoma brain metastases and VHL syndromes. However, it is necessary to analyze the patient's past and family history in detail, more importantly to combine advanced methods such as genetic testing and postoperative pathology for identification.