Cutaneous T-cell lymphoma (CTCL) is a rare and aggressive type of non-Hodgkin’s lymphoma that affects the skin. Previous studies have found mutations in the pathway known as JAK-STAT in other blood cancers, but that pathways’ association with CTCL was unknown.

In a recent study, Jaehyuk Choi, MD, PhD, and his collaborators performed genetic sequencing on tumor skin biopsy samples from CTCL patients to search for mutations in the JAK-STAT pathway. The researchers discovered several gene fusion events – a rare occurrence where two independent genes are joined to create a hybrid gene that often leads to cancer.

All gene fusion events they observed involved JAK2, a kinase or enzyme in the JAK-STAT pathway. Further analysis showed these JAK2 mutations to be nearly perfect predictors of cancer proliferation.

To stop cancer proliferation, a JAK2 inhibitor could be used. Dr. Choi is currently running a clinical trial utilizing this strategy that, according to him, “could offer a chance for a cure.”

Dr. Choi is an associate professor of dermatology and of biochemistry and molecular genetics at Northwestern University Feinberg School of Medicine. His research on CTCL genome sequencing was funded in part by the Leukemia Research Foundation.