Hospital Sant Joan de Déu
Sharing to move ahead

Spanish researchers identify new genetic mutations involved in the development of congenital melanocytic nevi

Fragmento de ADN
Wednesday, March 27, 2019


Researchers at CIBERER and the Hospital Clínic in Barcelona have led a study that has identified genetic alterations involved in the development of large and giant congenital melanocytic nevi. The study has been carried out using massive sequencing tools and has helped to find already known point mutations, and new molecular alterations related to these diseases (including SOX5-RAF1 and ZEB2-ALK genes). 

The study, published in the Journal of Investigative Dermatology with the collaboration of the Department of Pediatric Dermatology of the SJD Barcelona Children’s Hospital, shows how this type of skin lesions have a greater molecular heterogeneity than previously thought. The results also indicate that patients with modifications in the RAF1 or ALK genes could benefit from existing treatments against these alterations.

Large or giant congenital melanocytic nevi are benign pigmented skin lesions usually associated with specific alterations in the NRAS gene. The lesions may occupy a large percentage of the single person’s skin and in certain cases, neurological abnormalities such as neurocutaneous melanosis may occur. Patients with nevus also have a greater risk of developing cancer; therefore, dermatological control must be exhaustive throughout their lives and it is frequent to resort to surgery to remove the tissues that are suspicious.

Access to the original articleGenetic Abnormalities in Large to Giant Congenital Nevi: Beyond NRAS Mutations | Journal of Investigative Dermatology

Last modified: