This campaign has now closed
It is thought that patients who present with hereditary leiomyoma and renal cell cancer [HLRCC] are probably only the tip of the iceberg, as currently, no measures are established and in many cases the primary diagnosis is not made and families remain unaware of the nature of their disease .
Categories
Beneficiaries
Situation
Hereditary leiomyomatosis and renal cell cancer [HLRCC]. This is an under-recognised syndrome caused by dominantly-inherited mutations in the fumarate hydratase [FH] gene. .Previously known as Reed's Syndrome. Affected individuals develop leiomyomas of the skin [papules or nodules] and/or uterus [fibroids] and are at greatly increased risk of type II papillary and collecting duct renal cancer. These renal cancers often present early in life and are very aggressive.
Solution
the registry will be invaluable for identifying families, ensuring that at risk individuals have appropriate genetic testing and screening, assimiliating clinical records from different hospitals, providing advice to patients, families and their clinicians and providing a research resource. The HLRCC registry will be set up with all these aims, including blood and tumour sample banking that will be available to researchers in Oxford and elsewhere.