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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| Published in: | Annals of the Royal College of Surgeons of England Vol. 103; no. 1; pp. e20 - e22 |
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| Main Authors: | , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
England
BMJ Publishing Group LTD
01.01.2021
Royal College of Surgeons |
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| ISSN: | 0035-8843, 1478-7083, 1478-7083 |
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| 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. |
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| AbstractList | 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
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. 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. 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.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. |
| Author | Wilczek, Y Veeratterapillay, R Sachdeva, A Turner, H |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/32969237$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1097/PAS.0000000000000292 10.1097/PAS.0b013e318227e7f4 10.1038/modpathol.2014.86 10.5858/arpa.2018-0024-RS |
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| Copyright | Copyright Royal College of Surgeons of England Jan 2021 Copyright © 2021, All rights reserved by the Royal College of Surgeons of England 2021 |
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| DOI | 10.1308/rcsann.2020.0196 |
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| Snippet | Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) accounts for 0.05–2% of all RCCs. The majority of patients have germline mutations, most... Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) accounts for 0.05-2% of all RCCs. The majority of patients have germline mutations, most... |
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| SubjectTerms | 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 |
| Title | SDH-deficient renal cell carcinoma: a clinicopathological analysis highlighting the role of genetic counselling |
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