Identification and Characterization of Birt–Hogg–Dubé Associated Renal Carcinoma
February 2007
in “
The Journal of Pathology
”
Studysummary This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
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The study investigated the involvement of the Birt–Hogg–Dubé (BHD) gene in renal neoplasms by examining 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 syndrome manifestations or family history. The tumor exhibited diverse cytomorphology and gene expression, with high levels of α-methylacyl-CoA racemase (AMACR) and KIT oncogene, but low levels of other markers. 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, and the identified BHD-mutated RCC displayed unique biological features.
