Identification and Characterization of Birt–Hogg–Dubé Associated Renal Carcinoma

    February 2007 in “ The Journal of Pathology ”
    Takayuki Murakami, Futoshi Sano, Ying Huang, Atsushi Komiya, Masaya Baba, Yoshihito Osada, Yoji Nagashima, Keiichi Kondo, Noboru Nakaigawa, Tetsuji Miura, Y. Kubota, Masahiro Yao, Takeshi Kishida
    TLDR Somatic BHD mutations are rare in Japanese renal tumors.
    The study investigated the role of the Birt–Hogg–Dubé (BHD) gene in renal neoplasms by analyzing 100 sporadic renal tumors for BHD mutations. A germline insertion mutation in exon 11 was identified in one patient with solitary renal cell carcinoma (RCC), who lacked other BHD symptoms or family history. The tumor showed diverse cytomorphology and gene expression, with high levels of AMACR and KIT oncogene, but low levels of several other genes. Clustering analysis suggested the tumor was similar to oncocytomas and chromophobe RCCs, indicating it may not fit traditional renal tumor classifications. The study concluded that somatic BHD mutations were rare in Japanese patients.
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