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.
Keywords:
Germline mutations; RCC; Renal cell cancer; SDH.
MeSH terms
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Adult
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Carcinoma, Renal Cell / diagnosis*
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Carcinoma, Renal Cell / genetics
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Carcinoma, Renal Cell / pathology
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Carcinoma, Renal Cell / surgery
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Female
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Genetic Counseling*
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Germ-Line Mutation
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Humans
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Kidney / diagnostic imaging
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Kidney / pathology
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Kidney / surgery
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Kidney Neoplasms / diagnosis*
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Kidney Neoplasms / genetics
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Kidney Neoplasms / pathology
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Kidney Neoplasms / surgery
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Neoplastic Syndromes, Hereditary / complications
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Neoplastic Syndromes, Hereditary / diagnosis*
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Neoplastic Syndromes, Hereditary / genetics
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Neoplastic Syndromes, Hereditary / surgery
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Nephrectomy
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Paraganglioma / diagnosis*
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Paraganglioma / genetics
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Paraganglioma / surgery
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Succinate Dehydrogenase / deficiency
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Succinate Dehydrogenase / genetics*
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Tomography, X-Ray Computed
Substances
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SDHB protein, human
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Succinate Dehydrogenase