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Case report
Bladder perivascular epithelioid cell tumour and tuberous sclerosis complex: a rare association
  1. Jo Lin Tee1,
  2. Jonathan Chambers2 and
  3. Geoffrey Strutton1
  1. 1Anatomical Pathology, Pathology Queensland, Queensland Health, Brisbane, Queensland, Australia
  2. 2Urology, Ipswich Hospital, Ipswich, Queensland, Australia
  1. Correspondence to Dr Jo Lin Tee; jolinjtee{at}gmail.com

Abstract

Bladder perivascular epithelioid cell tumours (PEComas) associated with tuberous sclerosis complex (TSC) are rare, with only one other case report in the literature to date. We present our case of a bladder PEComa in a young adult female with TSC arising de novo. Histopathology showed features in keeping with an angiomyolipoma and confirmatory immunohistochemical stains were positive for both melanocytic and smooth muscle markers. She was well at the 6-month follow-up post-surgical resection. Given the rarity of such lesions in the bladder, we discuss the diagnostic and prognostic challenges, clinical implications and a brief review of the literature to date.

  • urology
  • genetics
  • urological cancer

https://doi.org/10.1136/bcr-2021-241635

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    Footnotes

    • Contributors JLT and GS conceived the idea, appraised patient records and reported the histology. JLT wrote the manuscript. GS performed critical review of the manuscript. JLT obtained patient written consent for the case report. JC performed the acquisition of data including all necessary clinical information and provided clinical care for the patient.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.