What question did this study set out to answer?

To explore the long-term risk of malignancy in patients with prune belly syndrome (PBS) through a novel case and systematic review.

May 29, 2026Open Access

Neoplasms in Prune Belly Syndrome: A Novel Case of Early-Onset Metastatic Bladder Carcinoma and Systematic Review of Reported Tumors

Key Points

To explore the long-term risk of malignancy in patients with prune belly syndrome (PBS) through a novel case and systematic review.
Systematic literature review performed following PRISMA guidelines.
Literature search included multiple databases until April 2025 and focused on tumors related to PBS.
Classified tumors as PBS-associated or not and reported a new case of invasive bladder carcinoma.
Seventeen studies with 20 patients were included in the review, showing a significant number of genitourinary tumors.
Bladder carcinoma was the most common tumor, comprising 35% of cases, particularly occurring at younger ages.
The novel case involved a 33-year-old man with metastatic muscle-invasive urothelial carcinoma who died shortly after diagnosis.

Abstract

ABSTRACTPurpose Prune Belly Syndrome (PBS) is a rare congenital malformation complex characterized by cryptorchidism, urinary tract abnormalities and deficiency of the abdominal wall musculature. Although advances in neonatal and reconstructive care have substantially improved survival, the long-term risk of malignancy in this population remains poorly defined. We report a novel case of early-onset metastatic bladder carcinoma in a patient with PBS and perform a systematic review of all tumors described in association with the syndrome. Methods A systematic literature review was performed according to PRISMA guidelines and registered in PROSPERO (CRD420251072086). Databases searched through April 2025 included PubMed, Embase, Web of Science, ClinicalTrials.gov, Cochrane, and SciELO. Reported tumor cases in PBS patients were identified and classified as either PBS-associated or not. We additionally describe a new case of invasive bladder carcinoma. Results Seventeen studies comprising 20 patients met inclusion criteria. Tumors directly related to the genitourinary tract accounted for half of the cases. Bladder carcinoma was the most frequent neoplasm (35%), followed by hepatoblastoma (25%). Bladder tumors occurred at markedly younger ages and often presented as advanced diseases. Our index case involved a 33-year-old man with PBS who developed metastatic muscle-invasive urothelial carcinoma and died shortly after diagnosis. Discussion Improved survival in PBS has led to recognition of new late complications, including malignancy. Tumorigenesis may be influenced by chronic urinary stasis, infection, catheterization, cryptorchidism, and underlying genitourinary developmental abnormalities. These findings should be interpreted as hypothesis-generating given the limited number of reported cases. Conclusion Although uncommon, malignancies in PBS may occur earlier and behave more aggressively than in the general population. Given the current level of evidence, careful long-term follow-up with clinical awareness is warranted, rather than routine invasive screening for all patients.

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Cite This Study

Ribeiro et al. (Fri,) studied this question.

synapsesocial.com/papers/6a192da0fab5b468c44167a4 https://doi.org/https://doi.org/10.1016/j.jpurol.2026.106048

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