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

• Published in: Annals of the Royal College of Surgeons of England Vol. 103; no. 1; pp. e20 - e22
• Main Authors: Wilczek, Y, Sachdeva, A, Turner, H, Veeratterapillay, R
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.01.2021; Royal College of Surgeons
• Subjects: Abdomen; Adult; Carcinoma, Renal Cell - diagnosis; Carcinoma, Renal Cell - genetics; Carcinoma, Renal Cell - pathology; Carcinoma, Renal Cell - surgery; Dehydrogenases; Female; Genetic Counseling; Germ-Line Mutation; Humans; Kidney - diagnostic imaging; Kidney - pathology; Kidney - surgery; Kidney cancer; Kidney Neoplasms - diagnosis; Kidney Neoplasms - genetics; Kidney Neoplasms - pathology; Kidney Neoplasms - surgery; Morphology; Mutation; Neoplastic Syndromes, Hereditary - complications; Neoplastic Syndromes, Hereditary - diagnosis; Neoplastic Syndromes, Hereditary - genetics; Neoplastic Syndromes, Hereditary - surgery; Nephrectomy; Online Case Report; Paraganglioma - diagnosis; Paraganglioma - genetics; Paraganglioma - surgery; Succinate Dehydrogenase - deficiency; Succinate Dehydrogenase - genetics; Surveillance; Tomography, X-Ray Computed; Tumors; Ultrasonic imaging; Young adults; Renal cell cancer; RCC; Germline mutations; SDH
• ISSN: 0035-8843; 1478-7083; 1478-7083
• DOI: 10.1308/rcsann.2020.0196

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.