# Angelman Syndrome With Papillary Urothelial Carcinoma: An Unusual Initial Presentation and Two Recurrences

**Authors:** Faisal Altwijri, Osama Almubadel, Naif Alateeq, Faisal Alsaleh, Mohammad Jouma, Abdelmoniem Elgaili El-Tiraifi

PMC · DOI: 10.7759/cureus.93903 · Cureus · 2025-10-05

## TL;DR

A man with Angelman syndrome developed bladder cancer without known risk factors, and the cancer recurred twice.

## Contribution

This case report highlights an unusual presentation of urothelial carcinoma in a patient with Angelman syndrome.

## Key findings

- A 36-year-old man with Angelman syndrome developed urothelial carcinoma of the bladder.
- The patient had no known risk factors or family history of bladder cancer.
- The cancer recurred twice after initial diagnosis.

## Abstract

Bladder cancer, particularly urothelial carcinoma, is the most common malignancy of the urinary tract and is associated with several risk factors, including smoking, advanced age, and exposure to environmental toxins. Angelman syndrome is a rare neurodevelopmental disorder caused by a defect in the UBE3A gene, leading to characteristic neurological and behavioral manifestations. Although no clear association exists between these two conditions, we report a case of a 36-year-old man with Angelman syndrome who developed urothelial carcinoma of the urinary bladder despite the absence of identifiable risk factors or a family history of urothelial cancer, followed by two subsequent recurrences.

## Linked entities

- **Genes:** UBE3A (ubiquitin protein ligase E3A) [NCBI Gene 7337]
- **Diseases:** Angelman syndrome (MONDO:0007113), urothelial carcinoma (MONDO:0040679), bladder cancer (MONDO:0004986)

## Full-text entities

- **Genes:** UBE3A (ubiquitin protein ligase E3A) [NCBI Gene 7337] {aka ANCR, AS, E6-AP, EPVE6AP, HPVE6A, PIX1}
- **Diseases:** neurodevelopmental disorder (MESH:D002658), urothelial cancer (MESH:D014523), malignancy (MESH:D009369), Angelman Syndrome (MESH:D017204), Papillary Urothelial Carcinoma (MESH:D002291), Bladder cancer (MESH:D001749)

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12587079/full.md

## References

11 references — full list in the complete paper: https://tomesphere.com/paper/PMC12587079/full.md

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Source: https://tomesphere.com/paper/PMC12587079