Department of Urology, Tongji Hospital Affiliated Tongji Medical College of Huazhong University of Science and Technology (HUST), 1095 Jiefang Avenue, Wuhan, China.
Medicine (Baltimore). 2021 Mar 12;100(10):e24010. doi: 10.1097/MD.0000000000024010.
Renal-occupying lesions positive for urine fluorescence in situ hybridization (FISH) are usually considered urothelial carcinomas. Here, we describe 2 cases of renal metastases with chromosome duplications in urine exfoliated cells.
Patient 1, a 56-year-old male with a history of esophageal cancer, was admitted to our hospital on May 2017 after presenting with right back pain with microscopic hematuria for 1 month. Magnetic resonance imaging (MRI) showed right renal space-occupying lesions (5.4 cm × 4.6 cm) and multiple enlarged lymph nodes in the right renal hilum and retroperitoneum. The cystoscopy results were negative, and FISH analysis of urine exfoliated cells was positive, indicative of chromosome 3, 7, and 17 amplifications. Patient 2 was a 50-year-old male who was admitted to our hospital on May 2019 with no obvious cause of abdominal pain and abdominal distension (lasting for 7 days), with a serum creatinine level of 844 μmol/L. Patient 2 had no hematuria or fever, and MRI showed left renal inferior and medial space-occupying lesions, and multiple mesenteric nodules at the junction of the left adrenal gland, retroperitoneum, abdomen, and pelvis, which were partially fused. The tumor lesions were approximately 3.1 cm × 2.3 cm in size. The urine FISH results were positive, indicating chromosome 3, 7, and 17 amplifications.
Both patients were diagnosed with renal tumors with unknown pathology.
Patient 1 underwent laparoscopic resection of the kidney and ureter, and sleeve cystectomy. The postoperative pathological diagnosis was metastatic keratinized squamous cell carcinoma, with squamous cell carcinoma in the right hilar lymph node. Histological FISH of the primary esophageal cancer and renal metastases were consistent with the urine FISH test results. Patient 2 underwent a biopsy of the left renal inferior and retroperitoneal areas, and was diagnosed with diffuse large B-cell lymphoma.
Patient 1 survived 6 months after urological surgery. After treating patient 2 with the R-CHOP regimen and kinase inhibitors, his renal function recovered significantly and the mass become undetectable.
Our results imply that FISH-positive renal occupying lesions should be considered as potential renal metastases with chromosome aberrations when making a differential diagnosis.
尿液荧光原位杂交(FISH)阳性的肾占位病变通常被认为是尿路上皮癌。在此,我们描述了 2 例尿液脱落细胞中存在染色体重复的肾转移病例。
患者 1,男,56 岁,食管癌病史,因右腰痛伴镜下血尿 1 个月于 2017 年 5 月入院。磁共振成像(MRI)显示右肾占位病变(5.4cm×4.6cm),右肾门和腹膜后多个淋巴结肿大。膀胱镜检查结果为阴性,尿液脱落细胞 FISH 分析阳性,提示染色体 3、7 和 17 扩增。患者 2,男,50 岁,因无明显诱因腹痛腹胀 7 天于 2019 年 5 月入院,血肌酐 844μmol/L。患者无血尿或发热,MRI 显示左肾下极和内侧占位病变,左肾上腺、腹膜后、腹部和骨盆交界处多个肠系膜结节,部分融合,肿瘤病变大小约 3.1cm×2.3cm。尿液 FISH 结果阳性,提示染色体 3、7 和 17 扩增。
两名患者均被诊断为肾肿瘤,其病理性质不明。
患者 1 行腹腔镜肾输尿管袖状切除术和肾盂部分切除术。术后病理诊断为转移性角化性鳞状细胞癌,右肾门淋巴结见鳞状细胞癌。原发性食管癌和肾转移的组织学 FISH 与尿液 FISH 检测结果一致。患者 2 行左肾下极和腹膜后区活检,诊断为弥漫性大 B 细胞淋巴瘤。
患者 1 接受泌尿外科手术后存活 6 个月。患者 2 接受 R-CHOP 方案和激酶抑制剂治疗后,肾功能明显恢复,肿块不可检测。
我们的研究结果提示,当进行鉴别诊断时,对于 FISH 阳性的肾占位病变,应考虑其为潜在的肾转移,存在染色体异常。