Individuals with an inherited form of skin cancer often have a poor prognosis. The type of immunotherapy that was awarded this year’s Nobel Prize in Physiology or Medicine is, however, particularly effective in this patient group, research from Karolinska Institutet in Sweden shows. The study is published in the Journal of Medical Genetics.
Congenital mutations of the CDKN2A gene are the strongest known risk factors for inherited skin cancer. Individuals with melanoma who carry mutations in this gene also have poor prognosis, according to previous research.
Melanoma that has metastasised has a limited response to traditional chemotherapy. In recent years, new immunological treatments have appeared that many melanoma patients respond well to. These, so called immune checkpoint inhibitors treat cancer by inhibiting brake mechanisms in the immune system, a discovery by James P. Allison and Tasuku Honjo, for which they are now awarded the 2018 Nobel Prize in Physiology or Medicine.
In a new study, researchers at Karolinska Institutet and elsewhere have examined how effective immunological checkpoint therapy is for individuals with inherited CDKN2A mutation and metastatic melanoma. The results were compared with previous large-scale studies in which melanoma patients were treated with immunotherapy.
“We saw that the mutation-carriers
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