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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Veröffentlicht in:Annals of the Royal College of Surgeons of England Jg. 103; H. 1; S. e20 - e22
Hauptverfasser: Wilczek, Y, Sachdeva, A, Turner, H, Veeratterapillay, R
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England BMJ Publishing Group LTD 01.01.2021
Royal College of Surgeons
Schlagworte:
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
Online-Zugang:Volltext
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Beschreibung
Zusammenfassung: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.
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ISSN:0035-8843
1478-7083
1478-7083
DOI:10.1308/rcsann.2020.0196