Secondary, Somatic Mutations Might Promote Cyst Formation in Patients With Autosomal Dominant Polycystic Liver Disease

Among patients with PCLD who have a heterozygous germline mutation in PRKCSH, we found secondary, somatic mutations (second hits) in more than 76% of the liver cyst epithelia. PCLD is recessive at the cellular level, and loss of functional PRKCSH is an important step in cystogenesis.