VHL病合并肺癌一例误诊分析并文献复习

Misdiagnosis Analysis and Review of Related Literature of a Patient with VHL Disease Combined with Lung Cancer

目的总结Von Hippel-Lindau(VHL)病的诊治体会,探讨其临床特点并分析误诊原因,以减少误漏诊。方法结合相关文献对我院收治的1例VHL病并肺癌的临床资料进行回顾性分析。结果本例因头晕、步态不稳2个月入院。有吸烟史30年。外院结合肺部CT、头颅MRI检查诊断为肺癌并小脑转移瘤,予化疗无明显缓解且症状加重转入我院,经查体结合外院影像学检查诊断为小脑占位待查(血管母细胞瘤?转移瘤?)、肺癌,后经手术病理证实为小脑血管母细胞瘤、左肺腺癌。腹部CT增强扫描示左肾上腺结节,完善内分泌功能检查,临床诊断为左侧肾上腺嗜铬细胞瘤。综合分析病情诊断为VHL病并肺癌。结论 VHL病是一种罕见的遗传性疾病,合并肺癌者更少见,提示临床医生应加强对本病的认识,掌握其诊治要点,以降低误诊率。

Objective To summarize the therapy of Von Hippel-Lindau （VHL）and explore the clinical characteristics in order to reduce misdiagnosis rate. Methods The clinical data of a patient with VHL disease combined with lung cancer in our hos- pital were retrospectively analyzed and related literature was reviewed. Results The patient was admitted for dizziness and unsteady gait for two months, and he had a 30-year smoking history. He was misdiagnosed as having lung cancer and cerebellar metastases in another hospital by imaging results of pulmonary CT and brain MRI, and was treated with chemotherapy. The patient came to our hospital for chemotherapy, but there was no significant efficacy and the symptoms became worse. The patient was diagnosed as hav- ing eerebellar plaeeholder with unknown origin by examining body and imaging results （hemangioblastoma？ metastatic tumor.7） and lung cancer. The diagnosis of eerebellar hemangioblastoma and left lung adenocarcinoma was confirmed by operative pathology. Ab- domen contrast-enhanced CT showed a nodule in left adrenal. Left adrenal pheochromocytoma was confirmed clinically by endocrine function test. The patient was diagnosed as having VHL disease by comprehensive analysis. Conclusion VHL disease is a rare ge- netic disease, and a VHL disease combined with lung cancer is rarer. So clinicians should strengthen the understanding of VHL dis- ease and its characteristics in order to avoid misdiagnosis.