A gene mutated in 30% of insulinomas, pancreatic neuroendocrine tumours that produce insulin and cause patients to display features of diabetes, is reported in Nature Communications this week. These findings provide further understanding of the development of the disease and may provide opportunities for therapeutic intervention.
Pancreatic neuroendocrine tumours that continually secrete insulin, or insulinomas, are derived from pancreatic beta-cells. The tumours can be benign or malignant, but the underlying genetic defects are largely unknown. By sequencing all the genes in 10 insulinoma tumours, Guang Ning and colleagues identified mutations in a transcription factor called Yin Yang 1, which has roles in development, proliferation, differentiation and tumorigenesis. When they sequenced the gene in a larger group of 103 patients, they confirmed that the gene was mutated in 30% of insulinomas.
However, how the mutant form of Yin Yang 1 results in insulinomas is yet to be determined. These findings provide further research avenues for studying the events that give rise to insulinomas.