Journal of Carcinogenesis & Mutagenesis

Joost PH Drenth

Publications

• Short Review
  Somatic Hits in Polycystic Liver Diseases
  Author(s): Wybrich R Cnossen and Joost PH DrenthWybrich R Cnossen and Joost PH Drenth
  
  Polycystic Liver Disease (PLD) encompasses a number of disorders with the development of multiple cysts distributed throughout the liver either focally or equally. Hepatic cysts are fluid-filled cavities lined by benign epithelium. PLD is the major phenotype of isolated Polycystic Liver Disease (PCLD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD). The molecular principles in carcinogenesis indicate that there is an accumulation of multiple (somatic) mutations. This concept assumes that presence of a germline mutation (‘first hit’) in an inherited disorder requires a ‘second hit’ at the somatic level for cyst development to occur. The second hit is the rate-limiting step and results in somatic inactivation of the normal allele. Studies have identified secondary, somatic hits in human liver cyst tissues in PCLD and ADPKD. Inactivation of both copies in.. View More»
  DOI: 10.4172/2157-2518.1000154

  Abstract PDF