Hand-Assisted Laparoscopic Partial Nephrectomy for Large Renal Carcinoma with Succinate Dehydrogenase Deficiency

TY - JOUR

T1 - Hand-Assisted Laparoscopic Partial Nephrectomy for Large Renal Carcinoma with Succinate Dehydrogenase Deficiency

AU - Bersang, Ann Buhl

AU - Bube, Sarah

AU - Fode, Mikkel

AU - Azawi, Nessn H

PY - 2018

Y1 - 2018

N2 - 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.

AB - 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.

U2 - 10.1089/cren.2017.0140

DO - 10.1089/cren.2017.0140

M3 - Journal article

C2 - 29450259

SN - 2379-9889

VL - 4

SP - 12

EP - 14

JO - Journal of Endourology Case Reports

JF - Journal of Endourology Case Reports

IS - 1

ER -