Study in a Sentence:
Researchers have been able to systematically trace how the mutations in one’s genes develop over time, the process by which melanoma forms and spreads. This study collected 230 tissue samples from 82 patients with melanoma; researchers sequenced the tumor DNA, to identify gene mutations that appeared at different stages of cancer evolution, and the RNA, to link the mutations to gene activity. This is the first study to be able to match samples from the same patients, allowing researchers to study the melanoma and the mole that it developed from.
Healthy for Humans:
Melanoma treatments have a very high success rate if the melanoma is caught and treated early. However, no tools exist to identify high-risk individuals. It’s anticipated that this new discovery will allow researchers to look at tissue samples from patients with irregular moles to detect melanoma in its early stages, increasing the effectiveness of treatment.
This research exhibits the benefits of using human cells to study a human disease. This discovery can be incorporated into clinical genetic tests to quickly assess a patient’s risk of melanoma; scientists could potentially use a patient’s tissues to evaluate how they will respond to treatments.
- Shain AH, Joseph NM, Yu R, et al. Genomic and transcriptomic analysis reveals incremental disruption of key signaling pathways during melanoma evolution. Cancer Cell. 2018;34:45-55. https://doi.org/10.1016/j.ccell.2018.06.005