Wilms tumor is the commonest primary renal malignancy in children and demonstrates substantial inter-ethnic variation in clinical, pathological, and molecular characteristics. Wilms tumor occurs at a lower incidence and at a younger age in Asians compared to Caucasians and Africans. Asians also present at an earlier stage of disease, with a higher incidence of favorable histology tumors and a lower incidence of perilobar nephrogenic rests compared to Caucasians, while African children present with more advanced disease. Studies have implicated population differences in the incidence of WT1 mutations, loss of imprinting of the IGF2 locus, and loss of heterozygosity of 1p/16q, or 1q gain as possible bases for epidemiological differences in the disease profile of Wilms tumors in various ethnic groups. Yet, evidence to support these associations is confounded by differences in treatment protocols and inequalities in the availability of treatment resources and remains limited by the quality of population-based data, especially in resource-limited settings.
Wilms肿瘤是儿童最常见的原发性肾脏恶性肿瘤,其临床、病理及分子特征在不同种族间存在显著差异。与白种人和非洲裔人群相比,亚洲人群的Wilms肿瘤发病率较低且发病年龄更小。相较于白种人,亚洲患者就诊时疾病分期更早,具有良好组织学类型的肿瘤比例更高,肾叶旁肾源性残余组织的发生率更低;而非洲裔儿童则常表现为更晚期的疾病。研究表明,WT1基因突变发生率、IGF2基因座印记丢失、1p/16q杂合性缺失或1q增益等分子特征的群体差异,可能是导致不同种族Wilms肿瘤流行病学特征差异的基础。然而,这些关联性证据受到治疗方案差异及治疗资源可及性不均等因素的干扰,且基于人群数据的研究质量——特别是在资源有限地区——仍存在局限,使得相关结论仍需进一步验证。
Inter-Ethnic Variations in the Clinical, Pathological, and Molecular Characteristics of Wilms Tumor