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Although age younger than 46 years has been an independent criterion for genetic testing in hereditary renal cell carcinoma (hRCC), there is a lack of evidence in the literature. This study aims to analyze whether a 46-year-old cut-off should be considered an independent genetic testing criterion and to elucidate risk factors predicting a positive genetic test. Observational study from January 2010 to December 2021. All patients under 46 years with a non-metastatic kidney mass and surgical indication were included. We assume patients who relapse in the first 5 years of follow-up could have a positive genetic test. As risk factors for relapse, ergo positive genetic test, we consider those patients who presented multifocal, bilateral, or previous renal tumor. Of 2,232 nephrectomies for kidney cancer, 301 patients met the inclusion criteria. The median follow-up was 60 months (IQR 29-101). The estimated five-year RFS was 94.4% (95% CI 91.3-97.5). Tumor size, previous renal tumor, multifocality, bilaterality, and pT3 or pT4 stage were independent recurrence risk factors. Genetic testing was performed on 24 patients. 10 patients had pathogenic variants in the test, 8 of which recurred during their life. 46-year-old cut-off has shown low performance in genetic testing. Therefore, we recommend that it be considered only if other hRCC risk criteria exist. Multifocality, bilaterality, and previous renal tumor could predict a positive genetic test.

Although age younger than 46 years has been an independent criterion for genetic testing in hereditary renal cell carcinoma (hRCC), there is a lack of evidence in the literature. This study aims to analyze whether a 46-year-old cut-off should be considered an independent genetic testing criterion and to elucidate risk factors predicting a positive genetic test. Observational study from January 2010 to December 2021. All patients under 46 years with a non-metastatic kidney mass and surgical indication were included. We assume patients who relapse in the first 5 years of follow-up could have a positive genetic test. As risk factors for relapse, ergo positive genetic test, we consider those patients who presented multifocal, bilateral, or previous renal tumor. Of 2,232 nephrectomies for kidney cancer, 301 patients met the inclusion criteria. The median follow-up was 60 months (IQR 29-101). The estimated five-year RFS was 94.4% (95% CI 91.3-97.5). Tumor size, previous renal tumor, multifocality, bilaterality, and pT3 or pT4 stage were independent recurrence risk factors. Genetic testing was performed on 24 patients. 10 patients had pathogenic variants in the test, 8 of which recurred during their life. 46-year-old cut-off has shown low performance in genetic testing. Therefore, we recommend that it be considered only if other hRCC risk criteria exist. Multifocality, bilaterality, and previous renal tumor could predict a positive genetic test.

Severe Cushing syndrome (SCS) is considered an emergency that requires immediate treatment to lower serum cortisol levels. Fluconazole may be considered an alternative treatment in Cushing syndrome when ketoconazole is not tolerated or unavailable. We report a 39-year-old woman with a history of partial pancreaticoduodenectomy due to a periampullary neuroendocrine tumor with locoregional extension. Three years after surgery, she developed liver metastases and was started on 120 mg of lanreotide/month, despite which, liver metastases progressed in the following 6 months. The patient showed extreme fatigue, muscle weakness, delirium, moon face, hirsutism and severe proximal weakness. Laboratory tests showed anemia, hyperglycemia and severe hypokalemia. 24-h urinary free cortisol: 2152 nmol/day (reference range (RR):

ABSTRACT: Objective: Succinate dehydrogenase complex, subunit D (SDHD) gene mutations are most commonly associated with head and neck paragangliomas. We describe a pair of cases with early-onset, bilateral pheochromocytoma (PCC) and paraganglioma (PGL) syndrome associated with SDHD mutation.Methods: We describe 2 cases of hereditary, early-onset, bilateral PCC/PGL syndrome associated with SDHD mutation.Results: Both cases presented under the age of 30 with bilateral PCC and PGL with SDHD mutations. Case 1 is a female who was initially diagnosed with hypertension and later work-up revealed elevated norepinephrine levels. Positron emission tomography coupled with computed tomography showed avid uptake of fluorodeoxyglucose by the right adrenal gland, the organ of Zuckerkandl, and the left carotid bifurcation. Surgical resection was performed and resulted in normalization of her catecholamines. Case 2 is a male who similarly presented with hypertension and elevated norepinephrine levels. Imaging revealed head, neck, and abdominal PGL. He underwent staged adrenal-ectomies and abdominal PGL resection. Gene sequencing and deletion/duplication analysis revealed that case 1 had an exon 2 deletion in her SDHD gene and case 2 had a frameshift mutation resulting in a stop codon in exon 3 in his SDHD gene.Conclusion: While SDHD mutations are primarily thought to result in silent head and neck tumors, our cases indicate that they should also be considered in the evaluation of functional, bilateral adrenal PCC in young patients.Abbreviations: FDG fluorodeoxyglucose PCC pheochromocytoma PGL paraganglioma SDHD succinate dehydrogenase complex, subunit D gene VHL von Hippel-Lindau

We present the case of a 25-year-old male with a history of neurofibromatosis type 1 and bilateral pheochromocytoma 4 years after kidney transplantation that was successfully treated with simultaneous bilateral posterior retroperitoneoscopic adrenalectomy.