Premium
FLCN gene‐mutated renal cell neoplasms: Mother and daughter cases with a novel germline mutation
Author(s) -
Nagashima Yoji,
Furuya Mitsuko,
Gotohda Hiroko,
Takagi Seiji,
Hes Ondrej,
Michal Michal,
Grossmann Petr,
Tanaka Reiko,
Nakatani Yukio,
Kuroda Naoto
Publication year - 2012
Publication title -
international journal of urology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.172
H-Index - 67
eISSN - 1442-2042
pISSN - 0919-8172
DOI - 10.1111/j.1442-2042.2011.02945.x
Subject(s) - folliculin , medicine , germline mutation , birt–hogg–dubé syndrome , germline , exon , genodermatosis , mutation , daughter , chromophobe cell , renal cell carcinoma , cancer research , pathology , gene , genetics , biology , clear cell , anatomy , pneumothorax , evolutionary biology
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.