Time-point and dosage of gene inactivation determine the tumor spectrum in conditional Ptch knockouts

Carcinogenesis. 2009 Jun;30(6):918-26. doi: 10.1093/carcin/bgp068. Epub 2009 Mar 25.

Abstract

Mutations in Patched (PTCH) have been associated with tumors characteristic both for children [medulloblastoma (MB) and rhabdomyosarcoma (RMS)] and for elderly [basal cell carcinoma (BCC)]. The determinants of the variability in tumor onset and histology are unknown. We investigated the effects of the time-point and dosage of Ptch inactivation on tumor spectrum using conditional Ptch-knockout mice. Ptch heterozygosity induced prenatally resulted in the formation of RMS, which was accompanied by the silencing of the remaining wild-type Ptch allele. In contrast, RMS was observed neither after mono- nor biallelic postnatal deletion of Ptch. Postnatal biallelic deletion of Ptch led to BCC precancerous lesions of the gastrointestinal epithelium and mesenteric tumors. Hamartomatous gastrointestinal cystic tumors were induced by monoallelic, but not biallelic Ptch mutations, independently of the time-point of mutation induction. These data suggest that the expressivity of Ptch deficiency is largely determined by the time-point, the gene dose and mode of Ptch inactivation. Furthermore, they point to key differences in the tumorigenic mechanisms underlying adult and childhood tumors. The latter ones are unique among all tumors since their occurrence decreases rather than increases with age. A better understanding of mechanisms underlying this ontological restriction is of potential therapeutic value.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aging / genetics
  • Aging / pathology*
  • Animals
  • Carcinoma, Basal Cell / genetics*
  • Carcinoma, Basal Cell / pathology
  • Cysts / genetics
  • Cysts / pathology
  • Gastrointestinal Neoplasms / embryology
  • Gastrointestinal Neoplasms / genetics
  • Gastrointestinal Neoplasms / pathology
  • Gene Dosage*
  • Gene Silencing*
  • Germ-Line Mutation
  • Mice
  • Mice, Knockout
  • Muscle Neoplasms / genetics
  • Muscle Neoplasms / pathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation
  • Patched Receptors
  • Patched-1 Receptor
  • Peritoneal Neoplasms / genetics
  • Peritoneal Neoplasms / pathology
  • Precancerous Conditions / genetics
  • Precancerous Conditions / pathology
  • Receptors, Cell Surface / genetics
  • Receptors, Cell Surface / physiology*
  • Rhabdomyosarcoma / embryology
  • Rhabdomyosarcoma / genetics*
  • Rhabdomyosarcoma / pathology
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology

Substances

  • PTCH1 protein, human
  • Patched Receptors
  • Patched-1 Receptor
  • Ptch1 protein, mouse
  • Receptors, Cell Surface