FLCN gene-mutated renal cell neoplasms: mother and daughter cases with a novel germline mutation.
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.
Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan. ynagas@med.yokohama-cu.ac.jp
Yoji
Y
Nagashima
Mitsuko
M
Furuya
Hiroko
H
Gotohda
Seiji
S
Takagi
Ondrej
O
Hes
Michal
M
Michal
Petr
P
Grossmann
Reiko
R
Tanaka
Yukio
Y
Nakatani
Naoto
N
Kuroda
D000368:Aged; D000595:Amino Acid Sequence; D058249:Birt-Hogg-Dube Syndrome / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007668:Kidney / Q000473:pathology*; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D009679:Nuclear Family; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins