Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma.

ABSTRACT: Cushing's disease (CD) is caused by pituitary corticotroph adenomas that secrete excess adrenocorticotropic hormone (ACTH). In these tumors, somatic mutations in the gene USP8 have been identified as recurrent and pathogenic and are the sole known molecular driver for CD. Although other somatic mutations were reported in these studies, their contribution to the pathogenesis of CD remains unexplored. No molecular drivers have been established for a large proportion of CD cases and tumor heterogeneity has not yet been investigated using genomics methods. Also, even in USP8-mutant tumors, a possibility may exist of additional contributing mutations, following a paradigm from other neoplasm types where multiple somatic alterations contribute to neoplastic transformation. The curr

SUBMITTER: Uzilov AV 

PROVIDER: S-EPMC5411693 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature