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Concurrent Birt-Hogg-Dubé Syndrome and Hereditary Paraganglioma-Pheochromocytoma Syndrome Presenting as Metastatic Renal Cell Carcinoma in a 25-Year-Old Man: A Case Report
Journal article   Open access   Peer reviewed

Concurrent Birt-Hogg-Dubé Syndrome and Hereditary Paraganglioma-Pheochromocytoma Syndrome Presenting as Metastatic Renal Cell Carcinoma in a 25-Year-Old Man: A Case Report

Julia Boland, Darius Shahbazi, Ryan Stevenson, Shahin Shahbazi and Raheem Lavar Stevenson
Permanente journal, v 24(5), pp 1-6
Nov 2020
DOI: https://doi.org/10.7812/TPP/19.193
PMID: 33482948
url
https://doi.org/10.7812/tpp/19.193View
Published, Version of Record (VoR)Open Access (License Unspecified),  Open

Abstract

Adrenal Gland Neoplasms - genetics Adult Birt-Hogg-Dube Syndrome - diagnosis Birt-Hogg-Dube Syndrome - genetics Carcinoma, Renal Cell - genetics Humans Kidney Neoplasms - genetics Male Pheochromocytoma - diagnosis Pheochromocytoma - genetics
Birt-Hogg-Dubé syndrome and hereditary paraganglioma-pheochromocytoma syndrome are rare genetic cancer syndromes that predispose patients to renal neoplasia. We report a case of a 25-year-old man with both Birt-Hogg-Dubé syndrome and hereditary paraganglioma-pheochromocytoma syndrome who presented with painless gross hematuria and was found to have metastatic clear cell renal carcinoma. A previously healthy, 25-year-old man presented to his outpatient primary care physician with painless gross hematuria. Urinalysis results demonstrated hemoglobinuria, and serum chemistry results demonstrated a creatinine level of 1.61 mg/dL (baseline of 0.96 mg/dL). A computed tomography scan showed that the patient had a left renal mass, renal vein thrombosis with inferior vena cava extension, and nodal and hepatic metastasis. Biopsy specimens of the left renal mass and liver demonstrated clear cell carcinoma. The patient underwent cytoreductive nephrectomy, caval thrombectomy, and partial colectomy with reanastomosis. He received palliative therapy with 1 mg/kg of ipilimumab and 3 mg/kg of nivolumab for 4 cycles. To our knowledge, this is the first known case report to date documenting a patient with concurrent Birt-Hogg-Dubé syndrome and hereditary paraganglioma-pheochromocytoma syndrome. This case demonstrates the exceptionally young presentation of metastatic renal cell carcinoma with this genotype.

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