Sequencing Study Reveals Novel Risk Genes of Pituitary Neuroendocrine Tumors

A whole-exome analysis of individuals with pituitary neuroendocrine tumors (PitNET) is presented in PLOS One this week, revealing novel genes associated with risk of developing the cancer. Somatic genetic alterations in PitNET tissues have been previously identified, but the detection of overlapping somatic PitNET candidate genes is rare. In this study, a team led by scientists from the Latvian Biomedical Research and Study Centre performed exome sequencing on blood and PitNET tissue from 15 patients, analyzing the resulting data using two somatic variant detection algorithms. Among the findings were two previously unidentified PitNET candidate genes with recurrent somatic variants, as well as 13 genes overlapping with hits from previous PitNET studies that contain somatic variants. The work, the study's authors write, demonstrates that "the use of multiple sequencing data analysis pipelines can provide more accurate identification of somatic variants in PitNETs."