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Serum markers in patients with congenital melanocytic nevi: clinicopathological and genetic correlation

20th national competition for scientific and technical research

Rare diseases

Senior Researcher : Pedro Redondo Bellón

Research Centre or Institution : Clínica Universidad de Navarra. Pamplona

Asbtract

Congenital melanocytic nevi are moles present from birth in some children, which can vary in size and color and evolve in very different ways. It is not well known why some nevi grow more and others less, why some become deeper and others are superficial. This means that treatment decisions are often made based on what their parents and doctors believe is most appropriate, but not based on objective data. Today the treatment of giant congenital melanocytic nevi is controversial, and generally consists of a surgical operation to remove it. This is done for cosmetic reasons or to reduce the risk of melanoma, a malignant tumor that can develop over an area of ​​the mole or the brain in certain patients. In real life, there is a lack of data in relation to different aspects: appearance of the nevus, detectable risk markers in blood, histological characteristics or family (genetic) aspects. Increasing knowledge about these aspects would make it possible to distinguish why a patient evolves in one way or another.

If we had these data, we could delay or not do the surgical operation in those patients who we know that their nevus will not grow and may even improve over time. On the contrary, we could advance this intervention in those patients in whom the injury is going to deepen and is going to be associated with other future complications. Also the results of the analysis and data on the genetics of these patients can guide us on the possibility of other treatments than surgical removal. Thus it is possible that new drugs that are being developed in other areas of medicine may be useful to treat nevi in ​​some patients.

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