A pleiomorphic GH pituitary adenoma from a Carney complex patient displays universal allelic loss at the protein kinase A regulatory subunit 1A (PRKARIA) locus

J Med Genet. 2004 Aug;41(8):596-600. doi: 10.1136/jmg.2004.020214.

Abstract

Carney complex (CNC) is a familial multiple endocrine neoplasia syndrome associated with GH-producing pituitary tumours and transmitted as an autosomal dominant trait. Mutations of the PRKAR1A gene are responsible for approximately half the known CNC cases but have never found in sporadic pituitary tumours. Pituitary tissue was obtained from an acromegalic CNC patient heterozygote for a common (PRKARIA)i-inactivating mutation. Both immunohistochemistry and electron microscopy showed a highly pleiomorphic pituitary adenoma. The cell culture population appeared morphologically heterogeneous and remained so after more than 30 passages. The mixture was comprised of cells strongly immunostained for GH, spindle-shaped myofibroblast-like cells, and cuboid cells with large axonal projections (negative for GH). The population appeared to have both epithelial and mesenchymal cells. Both at baseline and at passage 30, cytogenetic analysis indicated the presence of normal 46, XY diploid karyotype, whereas losses of the PRKARIA(i) locus were demonstrated in more than 98% of the cells by fluorescent in situ hybridisation, supporting this gene's involvement in pituitary tumorigenesis. Allelic loss may have occurred in a single precursor cell type that differentiated and clonally expanded into several phenotypes. Epithelial-to-mesenchymal transition may also occur in CNC-associated pleiomorphic pituitary adenomas.

MeSH terms

  • Adenoma / enzymology*
  • Adenoma / genetics*
  • Adenoma / pathology
  • Adenoma / ultrastructure
  • Adult
  • Cyclic AMP-Dependent Protein Kinases / genetics*
  • Growth Hormone-Releasing Hormone / genetics*
  • Growth Hormone-Releasing Hormone / immunology
  • Humans
  • Immunohistochemistry / methods
  • In Situ Hybridization, Fluorescence / methods
  • Loss of Heterozygosity / genetics*
  • Male
  • Microscopy, Electron / methods
  • Multiple Endocrine Neoplasia / enzymology*
  • Multiple Endocrine Neoplasia / genetics*
  • Multiple Endocrine Neoplasia / pathology
  • Multiple Endocrine Neoplasia / ultrastructure
  • Pituitary Neoplasms / enzymology*
  • Pituitary Neoplasms / genetics*
  • Pituitary Neoplasms / pathology
  • Pituitary Neoplasms / ultrastructure
  • Tumor Cells, Cultured

Substances

  • Growth Hormone-Releasing Hormone
  • Cyclic AMP-Dependent Protein Kinases