Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Role of Metabolic Enzymes in Non-Melanoma Skin Cancer

Summary: The researcher can proved that certain compounds play an important role in the prevention of skin cancer. Researcher can use specific compounds, which classified as metabolic enzymes, and lower concentrations and complete absent in skin cancer cells. Researcher can biopsies of normal skin and precancerous or cancerous lesions, and can compare the concentrations of these compounds to determine the difference between the two areas. The result can lead to further understanding of skin cancers and pre-cancers. Because skin cancers and pre-cancers are so common, any knowledge would be very useful for many people in the future and may be used for development of future treatments or prevention strategies.

Detailed description: Biopsy procedure will be done at the Beckman Laser Institute or at the Dermatology Clinic Gottschalk Medical Plaza, of University of California, Irvine. Standard procedure of punch biopsy will be done in the areas determined by the physician researchers. The normal skin biopsy will be obtained from an area of skin without any suspicious lesions located on an area of the body. Biopsy specimens will be stored frozen at Beckman Laser Institute chemistry-lab for research and will be assigned with subject ID number, there will be no personnel health information attach to the skin specimens. There will be no cost to the subject or their insurer for participation in this study, except in the specific scenario of a suspected skin cancer that would undergo biopsy regardless of participation in this study. The time commitment for each subject is approximately 1 hour for each set of biopsies.
  Researchers can test the hypothesis that expression of key metabolic enzymes is reduced and/or lost during skin cancer progression. Total ribonucleic acid, a single-stranded biologic molecule involved in gene transcription, regulation, and translation, can be isolated from biopsied skin specimens. Quantitative Real-Time can be performed to determine the expression levels of several key metabolic enzymes.
  Metabolic enzymes regulate several vital signaling pathways in the human body. Some examples include hormone and bioactive lipid regulation. Aberrant regulation of these signaling pathways can lead to human diseases including cancer.
  Recent evidence has shown that metabolic enzyme call UGT in the genes call UDP-glucuronosyltransferases were shown to have significantly reduced expression in breast tumors compared with normal breast tissue from the same patients This observed loss of expression is hypothesized to be causal as these two enzymes are responsible for estrogen metabolism.
  However, relatively little is known about metabolic enzymes and skin cancer. We have preliminary data that UGT enzyme expression is lost during melanoma progression which allows deregulated lipoxygenase signaling.

Eligibility: Inclusion Criteria:
  -  Male or Female are age18 years and older
  -  Have normal skin and a skin lesion of interest
  -  Willing to have skin biopsies on those areas
  Exclusion Criteria:
  -  Male or Female are under 18 years of age
  -  Pregnant women

Relevance to patient case: not relevant