Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1 (BGI, 11 December 2013)

A recently published study in the journal Nature Communications may provide a new diagnostic target for insulinomas. The research group, from the Shanghai Jiao Tong, University School of Medicine in China, performed whole exome sequencing in 10 sporadic insulinomas with matched blood DNA and discovered an average of 8 somatic mutations per tumour.

A newly identified mutation occurs in 30% of insulinomas and may provide new diagnostic and therapeutic targets for the disorder, a study reported. There was recurrent mutation c.C1115G/p.T372R on the Ying Yang 1 gene found in 3 of the tumours. The authors then screened for the mutation in 103 other insulinomas for which they had samples and identified somatic mutation c.C1115G/p.T372R in 30% of sporadic insulinomas. The YY! gene regulates mitochondrial function, insulin and insulin-like growth factor signalling.

The group then assessed whether there were significant differences between the two groups. There was no significant difference in whether tumours were malignant nor not. To further understand the functional alterations caused by the mutation in T372R on YY1 they examined the expression of some of the target genes in insulinomas. There was significantly increased expression of the mitochondrial gene IDH3A and UCP2 in YY1 mutated tumours. The COLIA1 gene was also upregulated in YY1 mutated tumours. The YY1 gene is thought to have a fundamental process in cancer and metabolism.

Source: BGI (press release)