de Sá Pereira Bruna M, Azevedo Rafaela Montalvão de, Aguirre Neto Joaquim Caetano de, Menezes Clarice Franco, Rodrigues Karla Emília, Faria Paulo A, Camargo Beatriz de, Maschietto Mariana
. Centro de Pesquisas (CPQ), Instituto Nacional de Câncer (Inca), Rio de Janeiro, RJ, Brasil.
. Santa Casa de Belo Horizonte, Belo Horizonte, MG, Brasil.
Rev Assoc Med Bras (1992). 2019 Dec;65(12):1496-1501. doi: 10.1590/1806-9282.65.12.1496.
Childhood renal tumors account for ~7% of all childhood cancers, and most cases are embryonic Wilms' tumors (WT). Children with WT are usually treated by either COG or SIOP. The later treats the children using preoperative chemotherapy, but both have around 90% of overall survival in five years. WT is a genetically heterogeneous group with a low prevalence of known somatic alterations. Only around 30% of the cases present mutation in known genes, and there is a relatively high degree of intra-tumor genetic heterogeneity (ITGH). Besides potentially having an impact on the clinical outcome of patients, ITGH may interfere with the search for molecular markers that are prospectively being tested by COG and SIOP. In this review, we present the proposal of the current UMBRELLA SIOP Study 2017/Brazilian Renal Tumor Group that requires the multi-sampling collection of each tumor to better evaluate possible molecular markers, as well as to understand WT biology.
儿童肾肿瘤约占所有儿童癌症的7%，大多数病例为胚胎性威尔姆斯瘤（WT）。患有WT的儿童通常由儿童肿瘤协作组（COG）或国际小儿肿瘤学会（SIOP）进行治疗。后者采用术前化疗来治疗儿童，但两者的五年总生存率均约为90%。WT是一个基因异质性群体，已知体细胞改变的发生率较低。只有约30%的病例在已知基因中存在突变，且肿瘤内基因异质性（ITGH）程度相对较高。ITGH除了可能影响患者的临床结局外，还可能干扰COG和SIOP正在前瞻性测试的分子标志物的寻找。在本综述中，我们介绍了当前2017年SIOP伞状研究/巴西肾肿瘤组的提议，该提议要求对每个肿瘤进行多次采样收集，以更好地评估可能的分子标志物，并了解WT生物学特性。
