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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

Medium/large/giant congenital melanocytic nevi (CMN) are somatic rasopathies. Their management when complications have not developed is controversial and when they do appear, their course is fatal. Not all CMNs have a similar evolution, being possible disproportionate proliferation, development of melanoma, regression or stability. No clinical, analytical, histological or genetic predictors have been defined to personalize the approach or the advice to patients. A proliferation marker would be very useful to establish which lesions are in the active phase and should be treated and which others are stable and can be followed. We hypothesize, based on pathophysiologic plausibility, studies in other neoplasms and a preliminary study, that S-100, RAGE and SOX10 proteins could be elevated in serum and their levels could correlate with clinicopathologic and/or genetic features. We propose a study to determine the significance and usefulness of these three biomarkers, as well as a possible pharmacological modulation with new target therapies.

During the last 6 months we have concluded the recruitment of patients. We have collected clinical data and tissue and serum samples from 64 patients with congenital melanocytic nevus. Analytical determinations of the 3 proteins have been performed using electrochemiluminescence immunoassay (S100) and commercially available ELISAs (RAGE and SOX10). Tissue has been studied and morphometric analysis has been performed in Melan-A, S100 and ki67 staining. In preliminary statistical analysis it appears that certain clinical features could be related to elevated S100 levels.

In a group of 10 patients with CMN we have cultured tissue explants and tested different treatments. Samples have been paraffin-embedded and stained. We are currently performing multiplex image analysis to study whether the cellularity and/or proliferation of the nevus tissue varies with any of the treatments tested.

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