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    Major strides for cutaneous T-cell lymphoma

    Enhanced knowledge, improved diagnosis, new therapies

    Cutanteous T cell Lymphoma (CTCL) manifesting as erythroderma with leukemic blood involvement in this patient.”Researchers are making important strides in better understanding the genetics of cutaneous T cell lymphoma (CTCL). This new knowledge could have major implications for improved diagnosis and, potentially, new targeted CTCL therapies.

    One such study by Yale researchers describes 17 genes in CTCL pathogenesis, including genes involved in cell activation and cell death.1

    “We performed a systematic analysis on the genetic basis of CTCL using next generation sequencing. We identified disease promoting mutations in numerous putative oncogenes and tumor suppressors that affect DNA damage repair, chromatin modification, and T cell signaling,” says the study’s lead author Jaehyuk Choi, M.D., Ph.D., assistant professor of dermatology, biochemistry and molecular genetics at Northwestern University Feinberg School of Medicine, Chicago (formerly at Yale). “Specifically, we identified novel oncogenic mutations in CD28, a critical T cell costimulatory molecule. We believe this genetic information can be a useful tool for the diagnosis of this disease. Furthermore, we believe these studies will catalyze the eventual development of precision medicine for patients with CTCL, [with] patients [receiving] the therapies that are most likely to help them.”

    Answers for a diverse disease

    The genetic work helps to answer important questions about this diverse disease, according to study author Michael Girardi, M.D., professor and vice chair of dermatology at Yale School of Medicine.

    “By examining the coding regions of patients’ malignant cells, it was possible to identify the fuller spectrum of mutations. The mutations that were identified help explain why the CTCL cells behave as they do; why they continue to resist cell death and are in a state of perpetual activation; and why they suppress the normal T cells,” Dr. Girardi says.

    READ — Cutaneous T-Cell lymphoma: Poised for a new treatment paradigm

    In fact, several research groups, including at Stanford, Vanderbilt and the University of Pennsylvania, have performed similar CTCL sequencing studies on their patients. Together, these studies are helping to complete a fuller mapping of the genetic alterations possible in CTCL, according to Dr. Girardi.

    “The number of genes that can be affected is mind-boggling, so it is great to see all this mutational mapping information now also coming out from different research groups,” Dr. Girardi says. “Also, recent work from the Stanford and Harvard groups on high throughput sequencing of the T cell receptor will surely also help enhance the earlier diagnosis of CTCL, and better distinguish CTCL from inflammatory diseases of the skin.”

    NEXT: Difficult diagnosis

    Lisette Hilton
    Lisette Hilton is president of Words Come Alive, based in Boca Raton, Florida.

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