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논문분류	춘계학술대회 초록집
제목	A Case of Bilateral Multifocal Renal Tumors Diagnosed as Birt-Hogg-Dubé Syndrome Confirmed by Genetic Analysis
저자	Seokwoo Park1, Sehoon Park1, Eunjeong Kang1, Cheol Kwak2, Soon Ho Yoon3, Kyungboon Lee4, Hae Il Cheong5, Yon Su Kim1, Hajeong Lee1
출판정보	2015; 2015(1):
키워드	Birt-Hogg-Dubé,증후군,신장암,폐낭종
초록	Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominantly inherited cancer susceptibility syndrome characterized by skin fibrofolliculomas, pulmonary cysts and spontaneous pneumothorax, and renal cancers. The syndrome is caused by various germline mutations of the FLCN gene located in 17p11.2 encoding folliculin. In this study, we described a case of 50-year-old-woman who presented with flank pain. A CT scan of her abdomen and pelvis showed multifocal tumors with heterogenous enhancement in both kidneys including a 3.5 cm enhancing mass on the upper pole of the right kidney. To differentiate a metastatic cancer from primary kidney tumors, we performed PET-CT which showed no other hypermetabolic lesion suggestive of a primary site of metastatic cancer, leading us to suspect a primary renal cancer. Her chest CT showed a few thin-walled oval and lentiform cysts up to 1.5 cm at bilateral lower lungs. A needle biopsy of 3.5 cm mass on the right kidney revealed that the mass was chromophobe type renal cell carcinoma. Moreover, cystic changes of lungs were compatible with the findings in BHD. Genetic analysis performed to confirm the diagnosis of BHD recognized a single nucleotide deletion c.1557delT in exon 14. Considering the fact that renal cancers might be the principal determinant of life expectancy in BHD-affected patients, this report is noticeable as the mentioned mutation has not been associated with renal cancer before.
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