Xie Jing, Zhang Xue-Bin, Wang Wen-Ze, Li Han-Zhong
Department of Urology Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Medicine (Baltimore). 2016 Aug;95(33):e4597. doi: 10.1097/MD.0000000000004597.
Autosomal dominant polycystic kidney disease (ADPKD) is a multisystem hereditary disease characterized by formation of cysts in the ductal organs. Renal pelvis malignancy in ADPKD is very rare and sporadically reported in the previous literature. Here, we report the first case of renal pelvis squamous cell carcinoma with tumor embolus in a 35-year-old ADPKD patient. The patient presented with 3 months of persistent backache and intermittent fever, and was initially diagnosed as intracystic hemorrhage with inferior vena cava thrombosis formation. As a result, he received anticoagulation therapy in a local hospital. However, his backache got worsened during the therapy, and he lost 10 kg of his body weight from the onset of illness. In our hospital, computed tomography demonstrated a heterogeneous right renal mass as well as emboli in the inferior vena cava and bilateral renal veins. Positron emission tomography computed tomography and biopsy were also performed, but the results were equivocal. Considering the patient's willingness and the potential malignancy, we performed thoracoabdominal nephrectomy and embolectomy, and histological examination made the diagnosis of renal pelvis squamous cell carcinoma. After adjuvant chemotherapy including paclitaxel and carboplatin, the patient obtained improved physical status and was disease free at the 6-month follow-up. Although rare, renal pelvis squamous cell carcinoma should be considered in the differential diagnosis of renal mass in ADPKD patients.
Our case suggested surgery combined with adjuvant chemotherapy might be effective treatments in such a condition.
常染色体显性遗传性多囊肾病(ADPKD)是一种多系统遗传性疾病,其特征是在导管器官中形成囊肿。ADPKD患者发生肾盂恶性肿瘤非常罕见,先前文献中仅有零星报道。在此,我们报告首例35岁ADPKD患者发生肾盂鳞状细胞癌并伴有肿瘤栓子。该患者出现持续3个月的背痛和间歇性发热,最初被诊断为囊内出血并形成下腔静脉血栓形成。因此,他在当地医院接受了抗凝治疗。然而,治疗期间他的背痛加重,自发病以来体重减轻了10千克。在我院,计算机断层扫描显示右肾肿块不均匀,以及下腔静脉和双侧肾静脉中有栓子。还进行了正电子发射断层扫描计算机断层扫描和活检,但结果不明确。考虑到患者的意愿和潜在的恶性肿瘤,我们进行了胸腹肾切除术和栓子切除术,组织学检查确诊为肾盂鳞状细胞癌。在接受包括紫杉醇和卡铂的辅助化疗后,患者身体状况得到改善,6个月随访时无疾病。虽然罕见,但在ADPKD患者肾肿块的鉴别诊断中应考虑肾盂鳞状细胞癌。
我们的病例表明手术联合辅助化疗可能是治疗这种情况的有效方法。