title: No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
abstract: Germline mutations in Fumarate Hydratase (FH) cause the development of leiomyomas and leiomyosarcomas in the syndromes Multiple Cutaneous and Uterine Leiomyomata (MCUL1) and Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC). There is little evidence, however, that FH mutation plays a role in the development of sporadic leiomyomas or leiomyosarcomas. Such observations do not, however, exclude a role for FH in tumour development outside the context of MCUL1/HLRCC, as it is possible that FH expression could be silenced by epigenetic mechanisms. To explore this possibility we have developed a highly specific antibody to FH and analysed a series of forty-five fresh-frozen uterine leiomyomas and nine leiomyosarcomas for FH expression.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK. karen.barker@icr.ac.uk
authors.forename: Karen T
authors.initials: KT
authors.lastname: Barker
authors.forename: Hayley E
authors.initials: HE
authors.lastname: Spendlove
authors.forename: Nassera S
authors.initials: NS
authors.lastname: Banu
authors.forename: Julia A
authors.initials: JA
authors.lastname: Bridge
authors.forename: Cyril
authors.initials: C
authors.lastname: Fisher
authors.forename: Janet
authors.initials: J
authors.lastname: Shipley
authors.forename: Michelle
authors.initials: M
authors.lastname: Garrett
authors.forename: Isaac
authors.initials: I
authors.lastname: Manyonda
authors.forename: Richard S
authors.initials: RS
authors.lastname: Houlston
mesh_terms: D000328:Adult; D000818:Animals; D044127:Epigenesis, Genetic; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007074:Immunoglobulin G / Q000276:immunology; D007889:Leiomyoma / Q000201:enzymology / Q000235:genetics*; D007890:Leiomyosarcoma / Q000201:enzymology / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009215:Myometrium / Q000201:enzymology / Q000473:pathology; D011817:Rabbits; D014594:Uterine Neoplasms / Q000201:enzymology / Q000235:genetics*
chemical_list: D007074:Immunoglobulin G; D005649:Fumarate Hydratase