No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
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.
Barker
Karen T
KT
Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK. karen.barker@icr.ac.uk
Spendlove
Hayley E
HE
Banu
Nassera S
NS
Bridge
Julia A
JA
Fisher
Cyril
C
Shipley
Janet
J
Garrett
Michelle
M
Manyonda
Isaac
I
Houlston
Richard S
RS
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*
D007074:Immunoglobulin G; D005649:Fumarate Hydratase