Birt-Hogg-Dubé syndrome is a familial genodermatosis, of which patients frequently develop renal neoplasms, fibrofolliculomas and pneumatocele.
Here, we report a mother and daughter with renal neoplasms surgically resected (69 and 46 years-of-age at surgery, respectively). The mother's tumor was diagnosed as an unclassified type renal cell carcinoma associated with microscopic tumorous nodules, whereas the daughter's tumor was a hybrid oncocytic/chromophobe tumor. The germline mutation analysis of the responsible gene, FCLN (the folliculin gene), showed a deletion of 18 bp in exon 5 (c.332_349del/p.H111_Q116del), predicting an alteration of the amino acid sequence of "HPSHPQ" replaced by a single amino acid, "L". This is a novel germline mutation of the FCLN gene that has not been previously reported.
Written by:
Nagashima Y, Furuya M, Gotohda H, Takagi S, Hes O, Michal M, Grossmann P, Tanaka R, Nakatani Y, Kuroda N. Are you the author?
Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Division of Pathology, JA Hokkaido Koseiren Sapporo Kousei Hospital, Sapporo, Japan; Division of Urology, JA Hokkaido Koseiren Kucchan Kosei Hospital, Kucchan, Japan; Medical Mycology Research Center, Chiba University, Chiba, Japan; Department of Diagnostic Pathology, Chiba University Graduate School of Medicine, Chiba, Japan; Division of Diagnostic Pathology, Kochi Red Cross Hospital, Kochi, Japan; Department of Pathology, Charles University Hospital, Plzen, Czech Republic.
Reference: Int J Urol. 2011 Dec 29. Epub ahead of print.
doi: 10.1111/j.1442-2042.2011.02945.x
PubMed Abstract
PMID: 22211584
