Loss of imprinting in normal tissue of colorectal cancer patients with microsatellite instability

Nat Med. 1998 Nov;4(11):1276-80. doi: 10.1038/3260.


Loss of imprinting (LOI) is an epigenetic alteration of some cancers involving loss of parental origin-specific expression of imprinted genes. We observed LOI of the insulin-like growth factor-II gene in twelve of twenty-seven informative colorectal cancer patients (44%), as well as in the matched normal colonic mucosa of the patients with LOI in their cancers, and in peripheral blood samples of four patients. Ten of eleven cancers (91%) with microsatellite instability showed LOI, compared with only two of sixteen tumors (12%) without microsatellite instability (P < 0.001). Control patients without cancer showed LOI in colonic mucosa of only two of sixteen cases (12%, P < 0.001) and two of fifteen blood samples (13%, P < 0.001). These data suggest that LOI in tumor and normal tissue identifies most colorectal cancer patients with microsatellite instability in their tumors, and that LO! may identify an important subset of the population with cancer or at risk of developing cancer.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Colon / pathology
  • Colonic Neoplasms / genetics
  • Colonic Neoplasms / pathology
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • Colorectal Neoplasms / surgery
  • Genetic Markers
  • Genomic Imprinting*
  • Humans
  • Insulin-Like Growth Factor II / genetics*
  • Intestinal Mucosa / cytology
  • Intestinal Mucosa / metabolism*
  • Intestinal Mucosa / pathology
  • Microsatellite Repeats*
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic*
  • Reference Values


  • Genetic Markers
  • Insulin-Like Growth Factor II