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Birt–Hogg–Dubé syndrome ( BHD ) is an inherited disorder associated with a germline mutation of the folliculin gene (  FLCN  ). The affected families have a high risk for developing multiple renal cell carcinomas ( RCC ). Diagnostic markers that distinguish between   FLCN  ‐related  RCC  and sporadic  RCC  have not been investigated, and many patients with undiagnosed  BHD  fail to receive proper medical care. We investigated the histopathology of 27  RCC s obtained from 18  BHD  patients who were diagnosed by genetic testing. Possible somatic mutations of  RCC  lesions were investigated by  DNA  sequencing. Western blotting and immunohistochemical staining were used to compare the expression levels of  FLCN  and glycoprotein non‐metastatic B ( GPNMB ) between   FLCN  ‐related  RCC s and sporadic renal tumors ( n  = 62). The expression of   GPNMB   was also evaluated by quantitative  RT ‐ PCR . Histopathological analysis revealed that the most frequent histological type was chromophobe  RCC  ( n  = 12), followed by hybrid oncocytic/chromophobe tumor ( n  = 6). Somatic mutation analysis revealed small intragenic mutations in six cases and loss of heterozygosity in two cases. Western blot and immunostaining analyses revealed that   FLCN  ‐related  RCC s showed overexpression of  GPNMB  and underexpression of  FLCN , whereas sporadic tumors showed inverted patterns.   GPNMB    mRNA  in   FLCN  ‐related  RCC s was 23‐fold more abundant than in sporadic tumors. The distinctive expression patterns of  GPNMB  and  FLCN  might identify patients with  RCC s who need further work‐up for  BHD .

Distinctive expression patterns of glycoprotein non‐metastatic B and folliculin in renal tumors in patients with Birt–Hogg–Dubé syndrome