The research group led by Manel Esteller, director of the Epigenetics and Cancer Biology Program at the Bellvitge Biomedical Research Institute, has found out a link between childhood overgrowth syndromes caused by genetic mutations and cancer development.

The study, published in the Proceedings of the National Academy of Sciences, explains how the NSD1 gene alteration, responsible for a disease called Sotos syndrome, is involved in the development of nervous system tumors.

These research findings may extend to other childhood overgrowth syndromes, and may have important implications for the treatment of such patients. While there are drugs able to correct the chemical alteration that inactivates the gene, and that could serve to block tumor growth, this finding may predict its aggressiveness and design strategies to develop appropriate treatments.

Childhood overgrowth syndromes are rare diseases without specific treatment and with an ncreasing incidence in children. They are caused by mutations in genes regulating the extent of tissue and cell proliferation. People affected by Sotos syndrome are usually children and adolescents with an excessive growth of organs and body structures.

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