WILMS' TUMOR: GENETIC ASPECTS, DIAGNOSIS AND TREATMENT: A LITERATURE REVIEW

Abstract

Renal tumors account for approximately 7% of all pediatric tumors; however, Wilms tumor is the most common renal tumor in children, particularly those between 2 and 5 years of age. Its etiology is not yet fully understood, but it is known that certain genetic conditions may be associated with an increased risk of developing this tumor. As it is a malignant neoplasm, early diagnosis is essential to improve patient prognosis. Therefore, periodic screening through abdominal ultrasonography is necessary in patients with a genetic predisposition to this neoplasm. Most patients are asymptomatic, presenting only with a unilateral palpable abdominal mass during physical examination. However, other possible symptoms associated with this condition include arterial hypertension, abdominal pain, hematuria, fever, anemia, leukocytosis, constipation, and fatigue. The therapeutic approach for this tumor involves combined treatment, including chemotherapy, surgical tumor resection, and/or radiotherapy. Staging of Wilms tumor should be performed through the analysis of imaging studies to detect renal masses and distant metastases, thereby allowing for appropriate and individualized treatment planning for each patient. The primary objective of this study is to conduct a literature review on the genetic influence in Wilms tumor, as well as its diagnostic methods and emerging therapeutic options for this condition. The methodology adopted for the proposed literature review is based on the analysis and review of scientific articles published between 2021 and 2025, identified through searches in the PubMed, SciELO, and Google Scholar databases, using the following keywords: “Wilms Tumor,” “Tumor de Wilms,” “Nephroblastoma,” “Wilms tumor gene 1,” and “WT1 gene.”. Based on the analyzed studies, Wilms tumor is identified as a highly prevalent malignant pediatric renal neoplasm with a genetic component associated with its etiology. Its clinical presentation is variable, ranging from asymptomatic to oligosymptomatic forms. Diagnosis is initially established through clinical history and physical examination, with imaging studies requested for diagnostic confirmation. Furthermore, treatment of this neoplasm involves a combination of therapeutic modalities, namely nephrectomy followed by systemic chemotherapy. Thus, early diagnosis and the integration of surgical and adjuvant approaches are essential to optimize prognosis, highlighting the importance of continuous scientific research and specialized care. Finally, there is a clear need to intensify efforts to ensure timely diagnosis and appropriate treatment for children affected by Wilms tumor.