For patients with early-stage cutaneous T-cell lymphomas (CTCL), it currently takes on average six years to get a diagnosis after symptoms first appear. CTCL, a type of non-Hodgkin’s lymphoma that affects the skin, can start out looking like something much more benign – patients may come in with patchy, inflamed skin lesions that can look like psoriasis or eczema. Current diagnostic tools are limited and detect the cancer in only a subset of patients, meaning that diagnosis is frequently delayed until a patient’s symptoms worsen considerably.

Thomas Kupper, MD, Rachael Clark, MD, PhD, and their colleagues in Brigham and Women’s Hospital’s Department of Dermatology report in Science Translational Medicine on a new technique that uses genetic sequencing to create a profile of the T cells present in a patient’s biopsy. Their approach is far more sensitive and accurate at discriminating between CTCL and benign, inflammatory skin conditions. In collaboration with Adaptive Biotechnologies, the team tested samples from 46 patients with CTCL and 46 without. The new technique, called high-throughput TCR sequencing (HTS), detected the cancer in 100 percent of the CTCL samples and allowed the researchers to not only distinguish CTCL from psoriasis, eczema and other conditions, but also discriminate between disease recurrence and a common rash that can develop in reaction to chemotherapeutic drugs.

“We’ve developed therapies that we would like to begin using much earlier to treat patients, but historically, diagnosing this disease has been extremely challenging,” said Clark. “In our study, this new technique offered a fast and reliable way to diagnose CTCL much earlier. It also offers us a way to follow disease activity in a way that we’ve never been able to do before and offers us insights into the basic biology of this disease.”