SDH-deficient renal cell carcinoma: a clinicopathological analysis highlighting the role of genetic counselling.

Research output: Contribution to journalArticlepeer-review

Abstract

Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) accounts for 0.05-2% of all RCCs. The majority of patients have germline mutations, most frequently in the SDHB gene. People with these mutations are predisposed to developing paragangliomas, phaeochromocytomas and gastrointestinal stromal tumours. Patients should be referred to genetic services for further workup and close surveillance imaging due to the risk of development of further tumours. We present a woman with SDH-deficient RCC and review the literature associated with this uncommon entity.
Original languageEnglish
Pages (from-to)E20-E22
JournalAnnals of the Royal College of Surgeons of England
Volume103
Issue number1
DOIs
Publication statusPublished - 1 Jan 2021

Keywords

  • Adult
  • Carcinoma, Renal Cell/diagnosis
  • Female
  • Genetic Counseling
  • Germ-Line Mutation
  • Humans
  • Kidney Neoplasms/diagnosis
  • Kidney/diagnostic imaging
  • Neoplastic Syndromes, Hereditary/complications
  • Nephrectomy
  • Paraganglioma/diagnosis
  • Succinate Dehydrogenase/deficiency
  • Tomography, X-Ray Computed

Research Beacons, Institutes and Platforms

  • Manchester Cancer Research Centre

Fingerprint

Dive into the research topics of 'SDH-deficient renal cell carcinoma: a clinicopathological analysis highlighting the role of genetic counselling.'. Together they form a unique fingerprint.

Cite this