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A genetic test to detect cutaneous lymphoma?

Patchy, irritated, itchy skin: is it a sign of an allergy or eczema? Or of cutaneous lymphoma—a cancer of the white blood cells? Unfortunately, there is no way for physicians to clinically diagnose cutaneous lymphoma (CL) and distinguish it from benign skin conditions. Even under the microscope, CL conceals its true nature. In fact, it can take up to six years before the cancer is diagnosed based on symptoms—a critical problem for patients suffering from aggressive forms.

80 out of 100 patients experience itching and other symptoms that are typically associated with eczema.

To detect high-risk cases at an early stage, Dr. Denis Sasseville, dermatologist and researcher at the McGill University Health Centre, and Dr. Ivan Litvinov, dermatologist and researcher at the Ottawa Hospital Research Institute, are working to develop a gene-based diagnostic method.

Each year, some 3,000 new cases of CL are detected in North America, and 80 out of 100 patients experience itching and other symptoms that are typically associated with eczema. The other 20 cases are more serious: rapidly progressing lymphoma that can spread to the blood in two years. The researchers are seeking a way to predict the acuteness of the lymphoma in order to treat the aggressive types in less time and avoid radiation and chemotherapy in more indolent cases.

To do so, Dr. Sasseville, Dr. Litvinov and their collaborators at the CHUQ and CHUM analyzed the skin biopsies of 400 patients to determine a genetic signature. They found 17 genetic changes that could be used as markers to characterize the lymphomas and possibly serve as therapeutic targets. To validate their findings in various populations, the experts have joined forces with teams in the US and Europe. They also contributed to an online guide for patients released by the Cutaneous Lymphoma Foundation (US).