In 10% of the cases, phaeochromocytomas are extra-adrenal. This is a report on an 18 year old patient in whom the tumour was identified via sonography and computed tomography in the urinary bladder wall.

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Incidental adrenal masses are frequently detected due to the extensive use of cross-sectional imaging, with about 3% to 7% of adults estimated to have them. Paragangliomas and pheochromocytomas (PPGL), rare tumors originating from paraganglia tissues, including the adrenal medulla, continue to be imaging mimics, necessitating a multimodal approach for accurate diagnosis. We report a case of 72-years male presenting with intermittent pain abdomen for the past 1 year.

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Background: Anal and perineum pain caused by malignant tumor invasion is often difficult to control with opioids. Continuous sacral epidural ethanol injection therapy is less likely to cause bladder and rectal disturbances, making it a suitable treatment option for patients with preserved voiding function.

Case Presentation: A 45-year-old woman with multiple metastases of malignant pheochromocytoma suffered severe anal pain that worsened, especially when sitting, and was unresponsive to opioid rescue therapy.

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Rationale: Pheochromocytomas typically arise in the adrenal medulla, whereas ectopic pheochromocytomas/paragangliomas commonly occur near the abdominal aorta, bladder, mediastinum, and head. Diaphragmatic pheochromocytomas are exceedingly rare, and there is limited surgical experience with their treatment.

Patient Concerns: In Case A, the subject is a 45-year-old male, while in Case B, the subject is a 59-year-old female.

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Genetics of urinary bladder paragangliomas: a multi-center study of a Chinese cohort.

J Endocrinol Invest

December 2024

Department of Urology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.

Article Synopsis
  • The study explores the genetic characteristics of urinary bladder paragangliomas (UBPGLs) in a cohort of 70 Chinese patients, aiming to better understand their heritability and genetic variations.
  • Results show that 38 patients had pathogenic variants (PVs), mainly in cluster 1A genes like SDHB and HRAS, with UBPGLs showing higher PV rates in cluster 1A compared to non-head and neck PGLs.
  • The findings indicate a diverse genetic profile among Chinese patients with UBPGLs, emphasizing the necessity for genetic testing to identify significant pathogenic variants.
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