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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Hand-Assisted Laparoscopic Partial Nephrectomy for Large Renal Carcinoma with Succinate Dehydrogenase Deficiency

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Background: Germline mutations in succinate dehydrogenase (SDH) are associated with multifocal cancers: pituitary gland tumors, pheochromocytomas, paragangliomas, gastrointestinal stromal tumors, and renal-cell carcinomas (RCCs). SDH-deficient renal-cell carcinoma (SDH-RCC) was first identified in 2004 as an inherited kidney cancer with mutations in the SDH gene. SDH consists of A, B, C, and D units. Mutation in the SDHB gene is the most common mutation in SDH-deficient RCCs. Case Presentation: We report a case of a 51-year-old healthy man diagnosed with SDHB germline mutation and RCCs. Positron emission tomography/computed tomography (PET/CT) showed a 12 cm tumor in the upper pole of the left kidney. A hand-assisted laparoscopic partial nephrectomy was performed and the histopathology of the tumor showed SDH-deficient RCC with clear surgical margins. Six months after the initial presentation, the patient had a slightly impaired renal function and was disease-free on PET/CT. Conclusion: Patients with SDH-deficient RCC are at risk of multifocal kidney tumors and should be offered lifelong follow-up. To preserve the renal function, nephron-sparing surgery is the choice of treatment when feasible, regardless of tumor size.

Original languageEnglish
JournalJournal of Endourology Case Reports
Volume4
Issue number1
Pages (from-to)12-14
Number of pages3
ISSN2379-9889
DOIs
Publication statusPublished - 2018

ID: 54774670