title: Hereditary leiomyomatosis and renal cell cancer syndrome: a family affair.
abstract: A 49-year-old woman with cutaneous and uterine leiomyomas, flank pain and a family history of hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome sought genetic testing. She was found to harbour a fumarate hydratase (FH) genetic mutation and a previously undetected renal tumour. The patient underwent radical nephrectomy, and remains well at follow-up. HLRCC syndrome is a rare autosomal dominant disease, with patients at increased risk for cutaneous leiomyomas, early-onset uterine leiomyomas and aggressive renal carcinoma. Although the syndrome may manifest life-threatening complications, outcomes may be improved by preventative family screening and surveillance, compelling early diagnosis.
authors.affiliation: Austin Hospital, Heidelberg, Victoria, Australia.
authors.forename: Jiasian
authors.initials: J
authors.lastname: Teh
authors.affiliation: Austin Hospital, Heidelberg, Victoria, Australia.
authors.forename: Ned
authors.initials: N
authors.lastname: Kinnear
authors.affiliation: Royal Adelaide Hospital, Adelaide, South Australia, Australia.
authors.forename: Hannah
authors.initials: H
authors.lastname: Douglass-Molloy
authors.affiliation: Austin Hospital, Heidelberg, Victoria, Australia.
authors.forename: Derek Barrry
authors.initials: DB
authors.lastname: Hennessey
mesh_terms: D002292:Carcinoma, Renal Cell / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D007680:Kidney Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D018231:Leiomyomatosis / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014594:Uterine Neoplasms / Q000175:diagnosis* / Q000235:genetics
chemical_list: D005649:Fumarate Hydratase