Trial Information

Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene and Characterization of the Predisposition to Renal Cancer

Background:

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare autosomal dominantly
inherited disorder which confers susceptibility to develop cutaneous and uterine leiomyomas
and renal cell carcinoma.

HLRCC is caused by mutations in the Krebs cycle enzyme, fumarate hydratase localized on
chromosome 1q42.3-q43.

Objectives:

Define the risk of developing renal cancer, cutaneous leiomyoma and uterine leiomyoma in
this hereditary cancer syndrome

Define the types and characteristics (including patterns of growth) of renal cancer
associated with HLRCC.

Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene
mutations.

Determine genotype/phenotype correlations.

Determine if other genes caused HLRCC.

Eligibility:

An individual from a family in which one or more family members have:

Cutaneous leiomyoma and kidney cancer.

Cutaneous leiomyoma and uterine leiomyoma.

Multiple cutaneous leiomyoma.

Kidney cancer and uterine leiomyomata.

Renal tumor histology consistent with HLRCC including, but not limited to: Collecting Duct
and/ or Papillary, Type II.

Design:

These rare families will be recruited to genetically confirm diagnosis, determine size and
location of renal tumors, size at presentation, growth rate and metastatic potential of
renal tumors.

Genetic testing will be offered to gain appreciation of the effect of mutations on the
relative activity of various germline and somatic mutations.

We will determine if there is a relationship between mutation and disease phenotype.