Case report of 3-year-old girl with bilateral Wilms tumor and TP53 mutation treated with VAD chemotherapy and surgery

Bilateral Wilms tumor (BWT) accounts for 5%–7% of all Wilms tumors. BWT presents with an increased complexity and poorer prognosis than unilateral tumors. Currently, the standard treatment involves neoadjuvant chemotherapy combined with nephron-sparing surgery to preserve renal function. While regimens established by leading cooperative groups have improved survival rates, patients with high-risk molecular alterations, such as TP53 mutations, often exhibit intrinsic chemoresistance, complicating their management. We report the case of a 3-year-old girl who presented with intermittent abdominal pain. Imaging demonstrated bilateral stage V WT, with multiple hepatic and pulmonary metastases and extensive lymphadenopathy. She was managed according to the Chinese Children Cancer Group (CCCG)-WT-2019 protocol, receiving neoadjuvant VAD (vincristine, actinomycin D, and doxorubicin) chemotherapy, followed by staged bilateral nephron-sparing surgery. Histopathological examination demonstrated a high-risk, blastemal-predominant WT. Molecular analysis identified a TP53 p.R273H missense mutation. Fluorescence in situ hybridization (FISH) analysis further demonstrated 1q gain and 16q deletion. Postoperative treatments included targeted oral therapy, multiple chemotherapy regimens, and radiotherapy; however, the disease progressed. Ultimately, the tumor advanced to end-stage disease, and the patient died. This highlights the limitations of current histology- and stage-based approaches for specific molecular subtypes. Current evidence supports more aggressive surgical intervention for high-risk cases, but it is essential to balance the need for renal function preservation with the goal of achieving oncological control.