Genotype-phenotype landscape of pituitary adrenocorticotroph hormone adenoma

Objective To explore the pathogenesis of pituitary ACTH adenomas using whole-genome sequencing analysis.Methods Fresh tumor tissues and peripheral blood samples were collected in 9 confirmed cases of pituitary ACTH adenomas who underwent surgery. Whole genome sequencing was then performed, followed by analysis and verification of single nucleotide mutations, copy number variation (CNV) and chromosome structure variations.