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We aimed to identify somatic genetic alterations in pure growth hormone (GH)-secreting pituitary adenomas without  GNAS  variants. Patients with GH-secreting pituitary adenoma who underwent transsphenoidal adenomectomy at Severance Hospital, Yonsei University College of Medicine were recruited. Somatic genetic alterations were profiled by whole-exome sequencing (WES) and targeted resequencing. WES was performed using DNA from nine GH-secreting pituitary tumors and corresponding blood samples. Absence of  GNAS  variant was confirmed by Sanger sequencing. For targeted resequencing of 140 fixed tissues, 48 WES-derived candidate genes and 7 GH-secreting pituitary adenoma-associated genes were included. Forty-eight genes with 59 somatic variants were identified by WES. In targeted resequencing, variants in 26 recurrent genes, including  MAST4, PRIM2 ,  TNN ,  STARD9 ,  DNAH11 ,  DOCK4 ,  GPR98 ,  BCHE ,  DARS ,  CUBN ,  NGDN ,  PLXND1 ,  UNC5B , and  COL22A1 , were identified, but variants in previously reported genes were not detected.  BCHE ,  DARS ,  NGDN , and  UNC5B  variants were associated with increased GH-secreting pituitary tumor biochemical activity, which was confirmed in vitro. Although recurrent point variants were rare, several somatic variants were identified in sporadic pure GH-secreting pituitary adenomas. Several somatic variants may affect pathways involved in the tumorigenesis and biochemical activities of GH-secreting pituitary adenomas.

Novel somatic variants involved in biochemical activity of pure growth hormone-secreting pituitary adenoma without GNAS variant