Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.
Bottom Line: Birt-Hogg-Dubé syndrome (BHD) is an inherited disorder associated with a germline mutation of the folliculin gene (FLCN).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.
Affiliation: Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.Show MeSH
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Mentions: Western blotting clearly indicated the loss of FLCN, but immunostaining for FLCN was not sufficiently specific to predict RCC associated with BHD. Some auxiliary markers were desirable to give an indication for genetic analysis. In the current study, we compared GPNMB expression between BHD and sporadic tumors. In quantitative RT-PCR, RCCs from BHD patients expressed GPNMB mRNA at levels that averaged 23-fold higher compared to sporadic RCCs (P < 0.01, Student's t-test) (Fig.5a). GPNMB mRNA levels of non-neoplastic renal tissues of BHD patients were as low as those of sporadic RCCs (data not shown).
Affiliation: Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.