FROM GENETIC DIAGNOSIS TO ONCOLOGIC MANAGEMENT: A CASE REPORT OF WILMS TUMOR WITH RENAL THROMBOSIS IN WAGR SYNDROME

Jara Marengo L.; Ascona Mucha H.L.; Macha Obregón C.; Tarrillo Leiva F.Y.; Maza Medina I. · Revista de la Facultad de Medicina Humana (2025) · DOI: 10.25176/rfmh.v25i4.7309

Resumen

Wilms tumor is the most common renal cancer in pediatric patients, accounting for approximately 90% of cases. We report the case of a 4-year-old girl with bilateral congenital aniridia, in whom WAGR syndrome was confirmed by karyotype analysis during her first year of life. At age 4, she was admitted with a palpable mass and pain in the left flank. A CT scan revealed a renal mass >8 cm in the left kidney and ipsilateral renal vein thrombosis. Management followed the International Society of Pediatric Oncology (SIOP) protocol, including 4 weeks of neoadjuvant chemotherapy, followed by radical nephrectomy and lymphadenectomy. Histopathological analysis showed a unifocal nephroblastoma with lymphovascular invasion in the renal sinus, 40% viable tumor, 60% blastemal component, and negative surgical margins. The patient received 34 weeks of adjuvant chemotherapy and is currently disease-free. This case highlights the importance of early diagnosis to enable timely treatment and improve prognosis. © Article published by the Revista de la Facultad de Medicina Humana of Universidad Ricardo Palma. It is an open access article, distributed under the terms of the Creative Commons License: Creative Commons Attribution 4.0 International, CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/), which allows non-commercial use, distribution and reproduction in any medium, provided that the original work is duly cited.

Instituciones: Universidad Ricardo Palma