Haploinsufficiency of the ESCRT Component HD-PTP Predisposes to Cancer

Cell Rep. 2016 May 31;15(9):1893-900. doi: 10.1016/j.celrep.2016.04.076. Epub 2016 May 19.

Abstract

Endosomal sorting complexes required for transport (ESCRT) drive cell surface receptor degradation resulting in attenuation of oncogenic signaling and pointing to a tumor suppressor function. Here, we show that loss of function of an ESCRT protein (HD-PTP encoded by the PTPN23 gene, located on the tumor suppressor gene cluster 3p21.3) drives tumorigenesis in vivo. Indeed, Ptpn23(+/-) loss predisposes mice to sporadic lung adenoma, B cell lymphoma, and promotes Myc-driven lymphoma onset, dissemination, and aggressiveness. Ptpn23(+/-)-derived tumors exhibit an unaltered remaining allele and maintain 50% of HD-PTP expression. Consistent with the role of HD-PTP in attenuation of integrin recycling, cell migration, and invasion, hemizygous Ptpn23(+/-) loss increases integrin β1-dependent B cell lymphoma survival and dissemination. Finally, we reveal frequent PTPN23 deletion and downregulation in human tumors that correlates with poor survival. Altogether, we establish HD-PTP/PTPN23 as a prominent haploinsufficient tumor suppressor gene preventing tumor progression through control of integrin trafficking.

MeSH terms

  • Animals
  • Carcinogenesis / genetics
  • Carcinogenesis / pathology
  • Cell Movement / genetics
  • Cell Survival / genetics
  • Endosomal Sorting Complexes Required for Transport / metabolism*
  • Genetic Predisposition to Disease*
  • Haploinsufficiency / genetics*
  • Hemizygote
  • Humans
  • Integrins / metabolism
  • Mice, Inbred C57BL
  • Neoplasm Invasiveness
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics*
  • Proto-Oncogene Proteins c-myc / metabolism

Substances

  • Endosomal Sorting Complexes Required for Transport
  • Integrins
  • Proto-Oncogene Proteins c-myc
  • PTPN23 protein, human
  • PTPN23 protein, mouse
  • Protein Tyrosine Phosphatases, Non-Receptor

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