肾母细胞瘤

正细胞正色素性贫血或缺铁性贫血。[104]Green DM. Diagnosis and management of malignant solid tumors in infants and children. Boston, Martinus: Nijhoff Publishing; 1985.[105]Davidson A, Hartley PS, Shuttleworth MH. Erythrocytosis and iron deficiency anemia in Wilms tumor. J Pediatr Hematol Oncol. 2005;27:502.http://www.ncbi.nlm.nih.gov/pubmed/16189446?tool=bestpractice.com

罕见情况下，由于异位产生促红细胞生成素可引起红细胞增多。[8]Mahmood A, Ghafoor T, Badsha S. Wilms' tumour: presentation and treatment. J Coll Physicians Surg Pak. 2004;14:142-145.http://www.ncbi.nlm.nih.gov/pubmed/15228845?tool=bestpractice.com[105]Davidson A, Hartley PS, Shuttleworth MH. Erythrocytosis and iron deficiency anemia in Wilms tumor. J Pediatr Hematol Oncol. 2005;27:502.http://www.ncbi.nlm.nih.gov/pubmed/16189446?tool=bestpractice.com[107]Batra S, Perelman N, Luck LR, et al. Pediatric tumor cells express erythropoietin and a functional erythropoietin receptor that promotes angiogenesis and tumor cell survival. Lab Invest. 2003;83:1477-1487.http://www.ncbi.nlm.nih.gov/pubmed/14563949?tool=bestpractice.com

正常或血红蛋白小于 110 g/L（小于 11 g/dL）

异常结果可能提示双侧累及或 Denys-Drash 综合征。[83]Breslow NE, Collins AJ, Ritchey ML, et al. End stage renal disease in patients with Wilms tumor: results from the National Wilms Tumor Study Group and the United States Renal Data System. J Urol. 2005;174:1972-1975.http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16217371http://www.ncbi.nlm.nih.gov/pubmed/16217371?tool=bestpractice.com

正常或肌酐清除率降低/血清肌酐升高

可发现继发于肝脏转移的胆汁淤积。[106]Czauderna P, Katski K, Kowalczyk J, et al. Venoocclusive liver disease (VOD) as a complication of Wilms' tumour management in the series of consecutive 206 patients. Eur J Pediatr Surg. 2000;10:300-303.http://www.ncbi.nlm.nih.gov/pubmed/11194540?tool=bestpractice.com

开始有潜在肝毒性的化疗之前获取基线水平有价值。

天门冬氨酸转移酶 (AST)、丙氨酸氨基转移酶 (ALT) 和血清胆红素正常或者升高

肉眼或镜下血尿可能是表现之一。[8]Mahmood A, Ghafoor T, Badsha S. Wilms' tumour: presentation and treatment. J Coll Physicians Surg Pak. 2004;14:142-145.http://www.ncbi.nlm.nih.gov/pubmed/15228845?tool=bestpractice.com

蛋白尿可见于 Denys-Drash 综合征患者。

透明/红色，RBC 大于 3/高倍视野，蛋白质大于 30 mg/dL 或正常

恶病质和经口摄入差可导致血清白蛋白/总蛋白降低。

罕见情况下，蛋白尿可导致双侧 Wilms 瘤或 Denys-Drash 综合征患者出现低白蛋白血症。[108]Ritchey ML, Green DM, Thomas PR, et al. Renal failure in Wilms' tumor patients: A report from the National Wilms' Tumor Study Group. Med Pediatr Oncol. 1996;26:75-80.http://www.ncbi.nlm.nih.gov/pubmed/8531856?tool=bestpractice.com

正常或偏低

如果肿瘤引起了获得性维勒布兰德氏病，则可能会延长。[109]Coppes MJ, Zandvoort SW, Sparling CR, et al. Acquired von Willebrand disease in Wilms' tumor patients. J Clin Oncol. 1992;10:422-427.http://www.ncbi.nlm.nih.gov/pubmed/1311024?tool=bestpractice.com

aPTT 正常或延长

可能是由于更侵袭性的肾肿瘤导致的骨转移和 PTH 升高。[110]Amar AM, Tomlinson G, Green DM, et al. Clinical presentation of rhabdoid tumors of the kidney. J Pediatr Hematol Oncol. 2001;23:105-108.http://www.ncbi.nlm.nih.gov/pubmed/11216700?tool=bestpractice.com

正常或者升高

初步诊断的首要检查选择。

相对易于在不镇静的情况下在幼儿中进行和确定肿块的肾脏来源，[37]Brisse HJ, Smets AM, Kaste SC, et al. Imaging in unilateral Wilms tumour. Pediatr Radiol. 2008;38:18-29.http://www.ncbi.nlm.nih.gov/pubmed/18038168?tool=bestpractice.com并确定正常对侧肾的存在，以确保为单侧疾病。[77]Coppes MJ, Arnold M, Beckwith JB, et al. Factors affecting the risk of contralateral Wilms tumor development: a report from the National Wilms Tumor Study Group. Cancer. 1999;85:1616-1625.http://www.ncbi.nlm.nih.gov/pubmed/10193955?tool=bestpractice.com

排除肾静脉和下腔静脉瘤栓。[111]Ritchey ML, Kelalis PP, Breslow N, et al. Intracaval and atrial involvement with nephroblastoma: review of National Wilms Tumor Study-3. J Urol. 1988;140:1113-1118.http://www.ncbi.nlm.nih.gov/pubmed/2846897?tool=bestpractice.com

中等回声、不均匀、主要为源于肾脏的实质性肿块（有或无囊性区域）

应获取基线胸部 X 线，因为这不仅是肺转移的初步筛查，也可用于在随访时进行疾病监测。

可识别淋巴结肿大导致的肺门和/或纵膈扩大

确认超声发现并确定肿瘤范围（排除腹内肿瘤扩散）以进行分期。[37]Brisse HJ, Smets AM, Kaste SC, et al. Imaging in unilateral Wilms tumour. Pediatr Radiol. 2008;38:18-29.http://www.ncbi.nlm.nih.gov/pubmed/18038168?tool=bestpractice.com[Figure caption and citation for the preceding image starts]: Wilms 瘤：MRI 发现UHRAD.com；经许可后使用 [Citation ends].

足够进行初步诊断，但明确诊断需要进行组织学检查。

确立正常对侧肾的存在，以确保为单侧疾病。[77]Coppes MJ, Arnold M, Beckwith JB, et al. Factors affecting the risk of contralateral Wilms tumor development: a report from the National Wilms Tumor Study Group. Cancer. 1999;85:1616-1625.http://www.ncbi.nlm.nih.gov/pubmed/10193955?tool=bestpractice.com

识别肾源性残留，肾源性残留与 Wilms 瘤风险增加相关，可能出现于相关性综合征。虽然大部分患者不会出现恶性病变，但定期评估这些病变向 Wilms 瘤的进展非常重要。[112]Caiulo VA, Latini G, Cataldi L, et al. Nephrogenic rests: their frequency and their fate. J Pediatr Hematol Oncol. 2007;29:361-363.http://www.ncbi.nlm.nih.gov/pubmed/17551395?tool=bestpractice.com

识别骨盆中的转移性疾病（例如淋巴结或精索静脉曲张：骨盆静脉中的瘤栓）。[54]Beckwith JB. Management of incidentally encountered nephrogenic rests. J Pediatr Hematol Oncol. 2007;29:353-354.http://www.ncbi.nlm.nih.gov/pubmed/17551393?tool=bestpractice.com

肾肿块，伴有不均匀强化；转移性疾病相关的肾外病变

记录任何肺转移、右心房中的瘤栓、肺门或纵膈淋巴结肿大以及气道压迫。[95]Szavay P, Luithle T, Semler O, et al. Surgery of cavoatrial tumor thrombus in nephroblastoma: a report of the SIOP/GPOH study. Pediatr Blood Cancer. 2004;43:40-45.http://www.ncbi.nlm.nih.gov/pubmed/15170888?tool=bestpractice.com[113]de Kraker J, Lemerle J, Voute PA, et al. Wilm's tumor with pulmonary metastases at diagnosis: the significance of primary chemotherapy. International Society of Pediatric Oncology Nephroblastoma Trial and Study Committee. J Clin Oncol. 1990;8:1187-1190.http://www.ncbi.nlm.nih.gov/pubmed/2162911?tool=bestpractice.com[114]Wilimas JA, Douglass EC, Magill HL, et al. Significance of pulmonary computed tomography at diagnosis in Wilms' tumor. J Clin Oncol. 1988;6:1144-1146.http://www.ncbi.nlm.nih.gov/pubmed/2839631?tool=bestpractice.com[115]Khanna G, Rosen N, Anderson JR, et al. Evaluation of diagnostic performance of CT for detection of tumor thrombus in children with Wilms tumor: a report from the Children's Oncology Group. Pediatr Blood Cancer. 2012;58:551-555.http://www.ncbi.nlm.nih.gov/pubmed/21674767?tool=bestpractice.com

与转移性疾病相关的肾外病变

使用的两种分类系统，基于组织学：

国家 Wilms 瘤研究组 (NWTSG)/儿童肿瘤学组 (COG)：[18]Perlman EJ. Pediatric renal tumors: practical updates for the pathologist. Pediatr Dev Pathol. 2005;8:320-338.http://www.ncbi.nlm.nih.gov/pubmed/16010493?tool=bestpractice.com[32]Breslow NE, Beckwith JB, Perlman EJ, et al. Age distributions, birth weights, nephrogenic rests, and heterogeneity in the pathogenesis of Wilms tumor. Pediatr Blood Cancer. 2006;47:260-267.http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16700047http://www.ncbi.nlm.nih.gov/pubmed/16700047?tool=bestpractice.com[75]Perlman EJ, Faria P, Soares A, et al. Hyperplastic perilobar nephroblastomatosis: long-term survival of 52 patients. Pediatr Blood Cancer. 2006;46:203-221.http://www.ncbi.nlm.nih.gov/pubmed/15816029?tool=bestpractice.com[116]Dome JS, Cotton CA, Perlman EJ, et al. Treatment of anaplastic histology Wilms' tumor: results from the fifth National Wilms' Tumor Study. J Clin Oncol. 2006;24:2352-2358.http://www.ncbi.nlm.nih.gov/pubmed/16710034?tool=bestpractice.com[117]Beckwith JB. National Wilms Tumor Study: an update for pathologists. Pediatr Dev Pathol. 1998;1:79-84.http://www.ncbi.nlm.nih.gov/pubmed/10463275?tool=bestpractice.com[118]Green DM, Breslow NE, Evans I, et al. Treatment of children with stage IV favorable histology Wilms tumor: a report from the National Wilms Tumor Study Group. Med Pediatr Oncol. 1996;26:147-152.http://www.ncbi.nlm.nih.gov/pubmed/8544795?tool=bestpractice.com[119]Gratias EJ, Dome JS. Current and emerging chemotherapy treatment strategies for Wilms tumor in North America. Paediatr Drugs. 2008;10:115-124.http://www.ncbi.nlm.nih.gov/pubmed/18345721?tool=bestpractice.com存在或不存在间变

国际儿童肿瘤协会 (SIOP)/英国儿童癌症研究组 (UKCCSG)：[120]Spreafico F, Terenziani M, Fossati-Bellani F, et al. Revised SIOP working classification of renal tumors of childhood. Med Pediatr Oncol. 2003;41:102.http://www.ncbi.nlm.nih.gov/pubmed/12764768?tool=bestpractice.com[121]Reinhard H, Semler O, Burger D, et al. Results of the SIOP 93-01/GPOH trial and study for the treatment of patients with unilateral nonmetastatic Wilms Tumor. Klin Padiatr. 2004;216:132-140.http://www.ncbi.nlm.nih.gov/pubmed/15175957?tool=bestpractice.com[122]de Kraker J, Graf N, van Tinteren H, et al. Reduction of postoperative chemotherapy in children with stage I intermediate-risk and anaplastic Wilms tumour (SIOP 93-01 trial): a randomised controlled trial. Lancet. 2004;364:1229-1235.http://www.ncbi.nlm.nih.gov/pubmed/15464183?tool=bestpractice.com低风险（完全坏死、囊性、部分分化）、中等风险（不是低风险或高风险的组织学）、高风险（胚基、弥漫性间变）。

通过特征性病理学表现确认诊断

可通过荧光原位杂交 (FISH) 对有孤立的 Wilms 瘤或有 Wilms 瘤和相关性综合征的患者进行 WT1 及其他邻近基因（例如 PAX6）缺失检查。

可通过高分辨率染色体分析和 FISH 对有提示 Beckwith-Wiedemann 综合征的临床特征患者进行 11p15.5 复制检查。[101]Diller L, Ghahremani M, Morgan J, et al. Constitutional WT1 mutations in Wilms tumor patients. J Clin Oncol. 1998;16:3634-3640.http://www.ncbi.nlm.nih.gov/pubmed/9817285?tool=bestpractice.com

WT1 及其他邻近基因缺失

阳性 LOH 结果与更差的治疗效果相关，标本来源于根治性肾切除术获取的新鲜冷冻的肿瘤组织。[40]Wittmann S, Zirn B, Alkassar M, et al. Loss of 11q and 16q in Wilms tumors is associated with anaplasia, tumor recurrence, and poor prognosis. Genes Chromosomes Cancer. 2007;46:163-170.http://www.ncbi.nlm.nih.gov/pubmed/17099873?tool=bestpractice.com

现阶段只是研究型试验，应在入选多中心临床试验后在经过认证的研究实验室进行。

16q 和 1p 的 LOH