Programs in Development
Melanoma Tissue Bank: A Biorepository Essential to New Research in Melanoma
Why are biorepositories important?
Biorepositories or tissue banks are “libraries” in which biospecimens are stored, either for clinical or research purposes. These biospecimens or tissue samples are frequently accompanied with information such as demographic or clinical data about the patient from whom the biospecimen was taken. Biorepositories or tissue banks are critical to modern molecular-based research (including genomics, proteomics, molecular imaging, etc) that will drive the development of a new generation of more targeted diagnostics and therapies (ie, personalized medicine) that can improve clinical outcomes for patients.
What are biospecimens?
Biospecimens, such as tissue, blood, plasma, and urine, as well as DNA, RNA, or other parts of the specimens, are taken from patients to be used for diagnosis and basic research about treatment. Whenever a cancer patient undergoes procedures such as a biopsy or surgery in which malignant tissue is removed for these diagnostic or therapeutic purposes, it is often possible for a small amount of that tissue to be stored and later used for research into a cure. Many patients have given consent for their biospecimens to be used for research, in the hope that, by studying this tissue, researchers might help other patients with melanoma and develop new treatments in the future.
How are biospecimens used in research?
Following the mapping of the human genome in 2000, biological research has moved into what is called the “genomic age.” This means that scientists now have the ability to study disease at the most basic “molecular” level. By identifying genes and how they work, as well as the role genetics play, scientists can uncover the origin of disease and what can prevent its progression. The biospecimens are also used for proteomics — an in-depth study of the genome and what it “codes” in the body — as well as pharmacogenomics, which links the human genome to how patients respond to drugs.
In addition to information about the molecule, scientists are also analyzing a vast amount of clinical information from patient records and clinical trials. From this data, it is possible to identify patterns that help scientists understand the disease and identify potential strategies for diagnosing and treating disease in new and more-effective ways. Human biospecimens can provide a bridge between molecular information and clinical information and can help researchers study the molecular characteristics of actual human disease and thus connect patterns with what is known about the disease. Specifically, human biospecimens can be used to:
Identify and validate specific genes or gene products that can be the “target” of certain anticancer drug targets
Identify how the disease develops
Develop “biomarkers” that can be found during screening tests and by which patients can be grouped, to determine which treatment is most appropriate
Group patients based on their genetic characteristics and how likely they are of having a positive response, for testing of new drugs
Are there examples of how well-characterized biospecimens can accelerate cancer research?
Yes. Two such examples are:
The development of trastuzumab (Herceptin®) for the treatment of breast cancer shows how important it is to have access to well-characterized and preserved tissue samples. Human epidermal growth factor receptor 2 (EGRF-2) which normally controls aspects of cell growth and division was found in greater amounts in tumor samples (from the NCI Cooperative Breast Cancer Tissue Resource) in 20% to 30% of breast cancer cases. This made it quicker to identify the antibody to this receptor (Herceptin) which was developed as a new treatment for the 20% to 30% of cancer patients who have this factor in their tissues. This important development might not have been found if testing had been done only on general breast cancer patients rather than the specific patient population that had this factor in their tissue. The biospecimens pointed researchers toward a targeted, highly effective therapy for a certain specific population of breast cancer patients.
Another important breakthrough cancer treatment — Gleevec® — was originally developed for the treatment of a form of leukemia by targeting the BCR-ABL protein. After special molecular testing on biospecimens collected from different tumor types, scientists discovered that a mutant form of KIT, which was similar to BCR-ABL, is responsible for the progression of a rare but deadly type of cancer, gastrointestinal stromal tumors (GIST). This led to the theory that Gleevec could be used to treat GIST, and soon clinical trials were conducted that confirmed the effectiveness of this drug for this new indication.