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Birt-Hogg-Dubé Syndrome with Renal Cancer Treated as Multiple Metastases of Cancer of Unknown Primary
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- Atsukawa Natsuko
- Department of Diagnostic and Interventional Radiology, Osaka International Cancer Institute, Japan Department of Diagnostic Radiology, Osaka Medical College, Japan
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- Yagi Toshinari
- Department of Outpatient Chemotherapy, Osaka International Cancer Institute, Japan
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- Kubo Chiaki
- Department of Pathology and Cytology, Osaka International Cancer Institute, Japan
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- Nakanishi Katsuyuki
- Department of Diagnostic and Interventional Radiology, Osaka International Cancer Institute, Japan
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- Osuga Keigo
- Department of Diagnostic Radiology, Osaka Medical College, Japan
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Description
<p>A 60-year-old woman presented with multiple lung and bone metastases with unknown primary cancer. Chest CT images showed multiple pulmonary cysts, predominantly of the middle and lower lobes. She also had a history of pneumothorax. Four years after chemotherapy and radiation therapy, multiple hypervascular tumors eventually developed in the bilateral kidneys, suggesting the possibility of Birt-Hogg-Dubé (BHD) syndrome. Genetic testing revealed a folliculin mutation, which confirmed the diagnosis of BHD syndrome. When we encounter cancer of unknown primary with multiple pulmonary cysts in a patient with a history of pneumothorax, thorough imaging of the kidneys and genetic testing for BHD syndrome is necessary. </p>
Journal
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- Internal Medicine
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Internal Medicine 60 (18), 3047-3050, 2021-09-15
The Japanese Society of Internal Medicine
