January 2020

Dr Kirsty Hodgson, a PhD student funded by the British Skin Foundation at Newcastle University, recently made a discovery in an inherited (genetic) skin condition called CYLD cutaneous syndrome (also known as Brooke-Spiegler Syndrome). In CYLD cutaneous syndrome, patients may develop multiple tumours on sites of the body such as the face, head, neck and torso after puberty. No medicines are available to treat the condition, so patients must undergo repeated surgeries to remove tumours that otherwise would continue to grow in size. 

  

An example of the tumours and where they may appear on the body

Patient Julie Robinson after surgery.

An unusual aspect of CYLD cutaneous syndrome is that three different types of skin tumour can occur. These tumours look very different both to the naked eye and under the microscope. So far, only changes in the CYLD gene have been shown to occur in these tumours. This led Kirsty and her supervisor Dr Neil Rajan, in collaboration with Dr Serena Nik-Zainal and team at Cambridge University, to look at the DNA of tumours for genetic changes using new cutting-edge technologies that might explain this. They discovered that some of the tumours had acquired new changes, or mutations, in two genes, called DNMT3A and BCOR.

  

Patient Julie Robinson, Dr Kirsty Hodgson and Dr Neil Rajan

These genes are essential as they make important proteins that modify how numerous other genes are expressed. This process, known as epigenetic regulation, is a process that tumour cells can hijack for their own advantage. Further research will now be required to determine the consequences of having a defective DNMT3A or BCOR protein in tumour cells. Early results suggest that the mutated DNMT3A may be allowing the tumour cells in CYLD cutaneous syndrome to grow using a survival signal that may be targetable with new drugs. To investigate this, Kirsty has been testing these drugs on cells grown in the lab from patients’ tumours. This may lead to future clinical trials for patients with CYLD cutaneous syndrome.

Dr Kirsty Hodgson & Dr Neil Rajan

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