Renal manifestation of Birt–Hogg–Dubé syndrome depicted by 18F-fludeoxyglucose positron emission tomography/computed tomography in a patient with hurtle cell thyroid malignancy

Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant genetic disorder characterized by small papular skin lesions (fibrofolliculomas) causing susceptibility to kidney cancer, renal and pulmonary cysts, spontaneous pneumothoraces, and several noncutaneous tumors. We report a case of a 67-year-old w...

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Main Authors: Emmanouil Panagiotidis, Nagabhushan Seshadri, Sobhan Vinjamuri
Format: Article
Language:English
Published: Thieme Medical and Scientific Publishers Pvt. Ltd. 2018-04-01
Series:World Journal of Nuclear Medicine
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Online Access:http://www.thieme-connect.de/DOI/DOI?10.4103/wjnm.WJNM_93_16
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author Emmanouil Panagiotidis
Nagabhushan Seshadri
Sobhan Vinjamuri
author_facet Emmanouil Panagiotidis
Nagabhushan Seshadri
Sobhan Vinjamuri
author_sort Emmanouil Panagiotidis
collection DOAJ
description Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant genetic disorder characterized by small papular skin lesions (fibrofolliculomas) causing susceptibility to kidney cancer, renal and pulmonary cysts, spontaneous pneumothoraces, and several noncutaneous tumors. We report a case of a 67-year-old woman, with a previous history of right hemithyroidectomy for adenomatous lesion. She presented with a swelling in the right thyroid bed that on subsequent biopsy revealed features of metastatic carcinoma. 18F-fludeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) performed for the detection of primary malignancy showed increased high-grade metabolic activity in the right supraclavicular soft tissue mass extending into the superior mediastinum. Moreover, on low-dose CT, there have been bilateral renal interpolar cortical lesions with mild metabolic activity. Given the fact that the right neck mass was highly unlikely to represent renal metastases in the absence of widespread metastatic disease, surgical excision of the right neck mass was performed. The histology of the mass was in keeping with hurtle cell thyroid carcinoma. In regard to renal lesions, bilateral partial nephrectomy was performed, which was consistent with chromophobe renal cell carcinoma, raising the suspicion of BHD that was confirmed by the subsequent genetic evaluation. It is well established that 18F-FDG PET/CT study is not an optimal modality for evaluation of renal lesions. However, careful assessment of the CT features in conjunction with the associated metabolic activity of the 18F-FDG PET component increases the diagnostic accuracy of PET/CT.
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spelling doaj-art-e8142ae3e6c7494fa434d6052001a10b2025-08-20T02:54:43ZengThieme Medical and Scientific Publishers Pvt. Ltd.World Journal of Nuclear Medicine1450-11471607-33122018-04-01170212312510.4103/wjnm.WJNM_93_16Renal manifestation of Birt–Hogg–Dubé syndrome depicted by 18F-fludeoxyglucose positron emission tomography/computed tomography in a patient with hurtle cell thyroid malignancyEmmanouil Panagiotidis0Nagabhushan Seshadri1Sobhan Vinjamuri2Department of Nuclear Medicine, Royal Liverpool University Hospital, Liverpool, MerseysideDepartment of Nuclear Medicine, Royal Liverpool University Hospital, Liverpool, MerseysideDepartment of Nuclear Medicine, Royal Liverpool University Hospital, Liverpool, MerseysideBirt–Hogg–Dubé (BHD) syndrome is an autosomal dominant genetic disorder characterized by small papular skin lesions (fibrofolliculomas) causing susceptibility to kidney cancer, renal and pulmonary cysts, spontaneous pneumothoraces, and several noncutaneous tumors. We report a case of a 67-year-old woman, with a previous history of right hemithyroidectomy for adenomatous lesion. She presented with a swelling in the right thyroid bed that on subsequent biopsy revealed features of metastatic carcinoma. 18F-fludeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) performed for the detection of primary malignancy showed increased high-grade metabolic activity in the right supraclavicular soft tissue mass extending into the superior mediastinum. Moreover, on low-dose CT, there have been bilateral renal interpolar cortical lesions with mild metabolic activity. Given the fact that the right neck mass was highly unlikely to represent renal metastases in the absence of widespread metastatic disease, surgical excision of the right neck mass was performed. The histology of the mass was in keeping with hurtle cell thyroid carcinoma. In regard to renal lesions, bilateral partial nephrectomy was performed, which was consistent with chromophobe renal cell carcinoma, raising the suspicion of BHD that was confirmed by the subsequent genetic evaluation. It is well established that 18F-FDG PET/CT study is not an optimal modality for evaluation of renal lesions. However, careful assessment of the CT features in conjunction with the associated metabolic activity of the 18F-FDG PET component increases the diagnostic accuracy of PET/CT.http://www.thieme-connect.de/DOI/DOI?10.4103/wjnm.WJNM_93_1618f-fluorodeoxyglucose positron emission tomography/computed tomographybirt.hogg.dube syndromechromophobe renal cell carcinomahurtle cell thyroid cancer
spellingShingle Emmanouil Panagiotidis
Nagabhushan Seshadri
Sobhan Vinjamuri
Renal manifestation of Birt–Hogg–Dubé syndrome depicted by 18F-fludeoxyglucose positron emission tomography/computed tomography in a patient with hurtle cell thyroid malignancy
World Journal of Nuclear Medicine
18f-fluorodeoxyglucose positron emission tomography/computed tomography
birt.hogg.dube syndrome
chromophobe renal cell carcinoma
hurtle cell thyroid cancer
title Renal manifestation of Birt–Hogg–Dubé syndrome depicted by 18F-fludeoxyglucose positron emission tomography/computed tomography in a patient with hurtle cell thyroid malignancy
title_full Renal manifestation of Birt–Hogg–Dubé syndrome depicted by 18F-fludeoxyglucose positron emission tomography/computed tomography in a patient with hurtle cell thyroid malignancy
title_fullStr Renal manifestation of Birt–Hogg–Dubé syndrome depicted by 18F-fludeoxyglucose positron emission tomography/computed tomography in a patient with hurtle cell thyroid malignancy
title_full_unstemmed Renal manifestation of Birt–Hogg–Dubé syndrome depicted by 18F-fludeoxyglucose positron emission tomography/computed tomography in a patient with hurtle cell thyroid malignancy
title_short Renal manifestation of Birt–Hogg–Dubé syndrome depicted by 18F-fludeoxyglucose positron emission tomography/computed tomography in a patient with hurtle cell thyroid malignancy
title_sort renal manifestation of birt hogg dube syndrome depicted by 18f fludeoxyglucose positron emission tomography computed tomography in a patient with hurtle cell thyroid malignancy
topic 18f-fluorodeoxyglucose positron emission tomography/computed tomography
birt.hogg.dube syndrome
chromophobe renal cell carcinoma
hurtle cell thyroid cancer
url http://www.thieme-connect.de/DOI/DOI?10.4103/wjnm.WJNM_93_16
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