A recent article in Medical Life Sciences alerts physicians to be aware of a deadly skin cancer. It is called cytotoxic cutaneous T-cell lymphoma (CTCL).
According to an article in the journal Blood, CTCL can be identified through unique mutations found in a protein pathway. A signaling pathway refers to chemical reactions whereby molecules work together in a cell. They control the function of that cell.
About the New Study
Studies conducted in the past identified mutations in pathways known as JAK-STAT. Although the same mutations were found in other types of blood cancers, CTCL pathways were still unknown.
Dr. Jaehyuk Choi, a Ruth K. Freinkel Research Professor is the lead author of a new study of CTCL.
By definition, CTCL starts in T lymphocytes (white blood cells) that normally help the immune system fight germs. But when mutations develop, the T cells attack the skin. Symptoms such as skin redness, round patches, or possibly skin tumors may occur.
Dr. Choi and his associates are conducting a study in which they perform genetic sequencing on CD8 biopsy samples. CD8 and T cell deficiency is associated with a number of autoimmune diseases such as multiple sclerosis and rheumatoid arthritis.
The investigators are looking for JAK-STAT mutations (acronym meaning: Janus Kinase/Signal Transducer and Activator of Transcription.)
During the study, they discovered gene fusion events such as whole chromosomes that interact with other chromosomes. These events all involved JAK2 which is a kinase (enzyme) in the pathway.
Katie Lee, a researcher and author with the Choi laboratory, explained that events involving JAK2 are rare. Dr. Lee noted that all identifiable events were associated with JAK2 and that is amazing.
In addition, the JAK2 mutations predicted the CD8+ subtype. This was a bonus for the researchers and will encourage the use of the aggressive CD8 as a biomarker.
Dr. Choi noted that previously pathologists could identify differences between various cancer subtypes using a microscope. Now they can link the differences to molecular abnormalities.
JAK2 mutations cause cancer to divide more rapidly. This can be countered by a JAK2 inhibitor. A new study testing this theory is now underway.
Looking Forward
Dr. Choi explains that each patient is exceptional and should be treated as an individual. That is the foundation of precision medicine. Its goal is to develop molecular tests and to treat every patient’s disease as being unique.
In Dr. Choi’s opinion, there is every reason to expect a complete response as an outcome of this therapy. He believes that it will offer a cure.
