title: Review of renal tumors associated with Birt-Hogg-Dubé syndrome with focus on clinical and pathobiological aspects.
abstract: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited disorder characterized by clinical features of skin lesions, pulmonary lesions and renal tumor. The gene responsible for this syndrome is located on chromosome 17p11.2 and designated as FLCN. In this article, we review renal tumors associated with BHDS with a focus on clinical and pathobiological aspects. Renal tumors often occur multifocally or bilaterally in the imaging analyses or gross examination. Histological examination of renal tumors includes a variety of subtypes such as hybrid oncocytic tumor, chromophobe renal cell carcinoma (RCC), oncocytoma, clear cell RCC and papillary RCC. The histologic discordance in multiple tumors seems to be characteristic of this syndrome. Oncocytosis is observed histologically in about half of the cases. Several investigations have elucidated that folliculin may be involved in the mammalian target of rapamycin (mTOR) pathway recently. Renal tumors composed of clear cells may behave in an aggressive fashion. However, renal tumors including hybrid oncocytic tumor, chromophobe RCC and oncocytoma behave mostly in an indolent fashion.
authors.affiliation: Naoto Kuroda Department of Diagnostic Pathology Kochi Red Cross Hospital, Shin-honmachi 2-13-51 Kochi City, Kochi 780-8562, Japan tel. +81-88-822-1201 fax +81-88-822-1056 e-mail: kurochankochi@yahoo.co.jp.
authors.forename: N
authors.initials: N
authors.lastname: Kuroda
authors.forename: M
authors.initials: M
authors.lastname: Furuya
authors.forename: Y
authors.initials: Y
authors.lastname: Nagashima
authors.forename: H
authors.initials: H
authors.lastname: Gotohda
authors.forename: F
authors.initials: F
authors.lastname: Kawakami
authors.forename: S
authors.initials: S
authors.lastname: Moritani
authors.forename: S
authors.initials: S
authors.lastname: Ota
authors.forename: M
authors.initials: M
authors.lastname: Hora
authors.forename: M
authors.initials: M
authors.lastname: Michal
authors.forename: O
authors.initials: O
authors.lastname: Hes
authors.forename: Y
authors.initials: Y
authors.lastname: Nakatani
mesh_terms: D058249:Birt-Hogg-Dube Syndrome / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007680:Kidney Neoplasms / Q000453:epidemiology / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D009154:Mutation; D010641:Phenotype; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins