Aug 19, 2015

Whole-Genome Sequencing of Growth Hormone (GH) - secreting Pituitary Adenomas

The Journal of Clinical Endocrinology and Metabolism
Niko VälimäkiAuli Karhu

Abstract

The somatic landscape of pituitary adenomas is largely unknown. Identification of somatic alterations aims at better understanding of tumor pathology. A genome-wide characterization of somatic single-nucleotide variants, structural variants and copy-number aberrations in somatotropinomas. Whole-genome sequencing and SNP array analyses were performed on twelve fresh-frozen somatotropinomas and their corresponding blood samples. All the coding somatic variants were confirmed by Sanger sequencing. Studied tumors were somatotropinomas. Apart from one AIP mutation positive patient, all cases were mutation negative for the established germline mutations associated with pituitary adenomas. No interventions. Somatic variants were identified with an established computational pipeline and filtered against germline data. Somatic copy number alteration analyses were performed using segmentation-based approaches. A genome-wide analysis revealed on average 129 somatic single nucleotide variants (SNV) per tumor. Further analysis of coding regions showed on average 2.3 SNVs per tumor. The only recurrent somatic events were the oncogenic GNAS mutation (p.Arg201Cys) and shared chromosome losses (chromosomes 1, 6, 13, 14, 15, 16, 18, 22). Analysi...Continue Reading

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Mentioned in this Paper

Genome-Wide Association Study
Study
Chromosomes, Human, Pair 1
Biochemical Pathway
Growth Hormone-producing Pituitary Tumour
Biologic Segmentation
Growth Hormone Activity
Germ-Line Mutation
GNAS gene
Genes

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