title: Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
abstract: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome characterized by skin piloleiomyomas, uterine leiomyomas and papillary type 2 renal cancer caused by germline mutations in the fumarate hydratase (FH) gene. Previously, we proposed renal imaging for FH mutation carriers starting at the age of 20 years. However, recently an 18-year-old woman from a Dutch family with HLRCC presented with metastatic renal cancer. We describe the patient and family data, evaluate current evidence on renal cancer risk and surveillance in HLRCC and consider the advantages and disadvantages of starting surveillance for renal cancer in childhood. We also discuss the targeted therapies administered to our patient.
authors.affiliation: Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands. k.y.spaendonck@umcg.nl
authors.forename: Karin Y
authors.initials: KY
authors.lastname: van Spaendonck-Zwarts
authors.forename: Sadhanna
authors.initials: S
authors.lastname: Badeloe
authors.forename: Sjoukje F
authors.initials: SF
authors.lastname: Oosting
authors.forename: Sjoerd
authors.initials: S
authors.lastname: Hovenga
authors.forename: Harry J F
authors.initials: HJ
authors.lastname: Semmelink
authors.forename: R Jeroen A
authors.initials: RJ
authors.lastname: van Moorselaar
authors.forename: Jan Hein
authors.initials: JH
authors.lastname: van Waesberghe
authors.forename: Arjen R
authors.initials: AR
authors.lastname: Mensenkamp
authors.forename: Fred H
authors.initials: FH
authors.lastname: Menko
mesh_terms: D000293:Adolescent; D002292:Carcinoma, Renal Cell / Q000235:genetics / Q000556:secondary* / Q000601:surgery; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000556:secondary* / Q000601:surgery; D018231:Leiomyomatosis / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D008297:Male; D010375:Pedigree; D011379:Prognosis; D012196:Review Literature as Topic
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