A breakthrough has been made in understanding a rare genetic skin disease that causes progressively enlarging skin tumors over the scalp, face, and body. For the first time, scientists at Newcastle University, UK, have identified changes in the DNA of the tumor cells in those with CYLD (CYLD lysine 63 deubiquitinase) (image) cutaneous syndrome (CCS) that may help them grow. A study published online on October 17, 2019 in Nature Communications suggest that the tumor cells gain a “survival advantage” when the changes occur - an important step in understanding ways to develop treatments. The open-access article is titled “Epigenetic Modifiers DNMT3A and BCOR Are Recurrently Mutated in CYLD Cutaneous Syndrome.” CCS is a hereditary condition that affects areas of the body where there are hair follicles and leads to skin tumors called "cylindromas" forming and continually growing. The alterations discovered by the experts were in two genes (DNMT3A and BCOR) that are found in the skin tumors. One of the changes highlights a mechanism that the skin tumor cells use to survive and it is hoped that these could be targeted with a new class of drug to inhibit their growth. The change to the second gene is novel for skin tumors and warrants further investigation to establish the significance it has on the growth of the tumors. Dr. Neil Rajan, Senior Lecturer and Honorary Consultant Dermatologist at Newcastle University's Faculty of Medical Sciences, led the research, which was done in collaboration with Dr Serena Nik-Zainal's team at the University of Cambridge.Dr. Rajan said: "This research is an important step in the ongoing work to develop treatments for patients with CCS, which is a central goal of my research group.
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