Testing of affected individual (proband) with hereditary leiomyomatosis and renal cell cancer (HLRCC) or
other FH deficiency disorder where the individual +/- family history meets one of the following criteria.
The proband has:
a. Type 2 papillary, HLRCC associated RCC (WHO pathology definition) OR tubulo-papillary renal
tumour at any age, OR
b. Two of: cutaneous leiomyomata, renal tumour (any histology) , OR uterine leiomyomata with
classic histological features < 40 years OR c. d. Cutaneous leiomyomata AND one first / second / third degree relative with renal tumour, OR Cutaneous leiomyomata AND two first / second / third degree relatives with cutaneous leiomyomata OR uterine leiomyomata with classic histological features < 40 years, OR e. Uterine leiomyomata with classic histological features (age <40) OR f. Multiple cutaneous leiomyomata Deceased affected individual (proband) where all the following are met; (i) the individual +/- family history meets one of the above criteria, AND (ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available, AND (iii) no living affected individual is available for genetic testing, AND (iv) after discussion at specialist cancer genetics MDT NOTE: Cutaneous leiomyomata should be histologically confirmed; uterine leiomyomata and renal tumours should be medically documented Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.