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Case Reports: Rare disease
Perivascular epithelioid cell tumour and investigation of genetic susceptibility
  1. Negin Sadeghi1,
  2. Sarah Smyth1,
  3. Stephen Damato2 and
  4. Hooman Soleymani majd1
  1. 1Department of Gynaecology Oncology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
  2. 2Pathology, John Radcliffe Hospital, Oxford, UK
  1. Correspondence to Dr Hooman Soleymani majd; hooman.soleymani{at}ouh.nhs.uk

Abstract

A patient in her 60s was referred to be investigated for an incidental large uterus with a history of renal cell carcinoma and melanoma. Uterine biopsy revealed features of perivascular epithelioid cell tumours (PEComas) and she underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy. Final histology confirmed PEComa with malignant features. Genomic studies did not reveal any deleterious germline variants; however, in view of her history, she is now under a 6-month follow-up with gynaecology-oncology. PEComas are rare tumours associated with tuberous sclerosis and melanoma, sharing genetic abnormalities. Gynaecological PEComas usually present with no or non-specific symptoms. Preoperative investigations are often misleading. Final histology and immunohistochemistry have overlapping features with smooth muscle tumours. Although rare, PEComas need to be treated aggressively to minimise the potential risk of spread. There is currently little evidence about further adjuvant treatment and no clear follow-up protocol. However, the literature suggests that the prognosis is generally good.

  • Genetics
  • Surgery
  • Cancer intervention

https://doi.org/10.1136/bcr-2022-250460

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    Footnotes

    • Contributors NS—data gathering, review of literature, drafting the manuscript, contacting the patient for publication consent. SS—review of literature, drafting and proofreading the manuscript. SD—review of histology slides, histopathology literature review. HSM—consultant operating surgeon and leader of the project.

    • 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.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

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