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

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 s...

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Vydáno v:	Annals of the Royal College of Surgeons of England Ročník 103; číslo 1; s. e20 - e22
Hlavní autoři:	Wilczek, Y, Sachdeva, A, Turner, H, Veeratterapillay, R
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England BMJ Publishing Group LTD 01.01.2021 Royal College of Surgeons
Témata:	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
On-line přístup:	Získat plný text
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Shrnutí:	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.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Report-3 ObjectType-Case Study-4 ObjectType-Case Study-2 ObjectType-Review-5 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0035-8843 1478-7083 1478-7083
DOI:	10.1308/rcsann.2020.0196