Mesh : Chromosome Duplication Esophageal Neoplasms / diagnosis genetics pathology urine Esophagus / diagnostic imaging Humans In Situ Hybridization, Fluorescence Kidney / diagnostic imaging pathology surgery Kidney Neoplasms / diagnosis genetics secondary urine Liquid Biopsy / methods Lymph Nodes / diagnostic imaging Lymphoma / genetics pathology urine Magnetic Resonance Imaging Male Middle Aged Retroperitoneal Neoplasms / genetics pathology urine Retroperitoneal Space / diagnostic imaging Tomography, X-Ray Computed Urinalysis / methods

来  源:   DOI:10.1097/MD.0000000000024010   PDF(Pubmed)

Abstract:
BACKGROUND: 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.
UNASSIGNED: 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.
METHODS: Both patients were diagnosed with renal tumors with unknown pathology.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: Our results imply that FISH-positive renal occupying lesions should be considered as potential renal metastases with chromosome aberrations when making a differential diagnosis.
摘要:
背景:尿液荧光原位杂交(FISH)阳性的肾脏占位性病变通常被认为是尿路上皮癌。这里,我们描述了2例尿脱落细胞染色体重复的肾转移病例。
未经证实:患者1,56岁男性,有食道癌病史,患者出现右背痛伴镜下血尿1个月后,于2017年5月入院.磁共振成像(MRI)显示右肾占位性病变(5.4cm×4.6cm),右肾门及腹膜后多发肿大淋巴结。膀胱镜检查结果为阴性,尿液脱落细胞的FISH分析为阳性,指示染色体3、7和17扩增。患者2是一名50岁的男性,他于2019年5月入院,没有明显的腹痛和腹胀原因(持续7天)。血清肌酐水平为844μmol/L。患者2没有血尿或发热,MRI显示左肾下内侧占位性病变,左肾上腺交界处多发肠系膜结节,腹膜后,腹部,和骨盆,部分融合。肿瘤病灶大小约3.1cm×2.3cm。尿液FISH结果为阳性,表明染色体3、7和17扩增。
方法:两例患者均诊断为肾肿瘤,病理不明。
方法:患者1接受腹腔镜肾和输尿管切除术,和袖状膀胱切除术。术后病理诊断为转移性角化鳞状细胞癌,右肺门淋巴结鳞状细胞癌。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接受了左肾下和腹膜后区域的活检,诊断为弥漫性大B细胞淋巴瘤。
结果:患者1在泌尿外科手术后存活6个月。在用R-CHOP方案和激酶抑制剂治疗患者2后,他的肾功能明显恢复,肿块变得无法检测。
结论:我们的结果表明,在进行鉴别诊断时,应将FISH阳性肾脏占位性病变视为具有染色体畸变的潜在肾脏转移。
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