Low frequency of mutations in the FH gene in certain tumors
Author Information
Author(s): Barker K T, Bevan S, Wang R, Lu Y-J, Flanagan A M, Bridge J A, Fisher C, Finlayson C J, Shipley J, Houlston R S
Primary Institution: Institute of Cancer Research
Hypothesis
Do mutations in the fumarate hydratase gene play a role in sporadic leiomyosarcomas and uterine leiomyomas?
Conclusion
Mutations in the fumarate hydratase gene do not play a major role in the development of sporadic leiomyosarcomas or uterine leiomyomas.
Supporting Evidence
- None of the 26 leiomyosarcomas harbored somatic mutations in fumarate hydratase.
- Fifty percent of leiomyosarcomas tested showed evidence of allelic imbalance at 1q.
- Only 5% of the leiomyomas showed allele imbalance at 1q42-q43.
Takeaway
The study looked at tumors to see if a specific gene was causing them, but found that it wasn't really involved.
Methodology
The study analyzed 129 uterine leiomyomas and 26 leiomyosarcomas for somatic mutations and allelic imbalance at chromosome 1q42.3-q43.
Limitations
Some mutations may have been missed or cannot be detected by a PCR-based approach.
Participant Demographics
21 unselected patients aged 37 to 50 years.
Digital Object Identifier (DOI)
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