Mutation of the transforming growth factor-beta type II receptor gene in right-sided colorectal cancer: relationship to clinicopathological features and genetic alterations

J Pathol. 1998 Apr;184(4):390-5. doi: 10.1002/(SICI)1096-9896(199804)184:4<390::AID-PATH1230>3.0.CO;2-Q.


The presence of inactivating mutations in the transforming growth factor-beta (TGF-beta) type II receptor (RII) gene in the colon cancer suggests that it may behave like a tumour suppressor gene. RII is mutated in the majority of colon tumours exhibiting widespread microsatellite instability, a characteristic generally referred to as the replication error phenotype (RER+). We investigated the association between RII mutations and various clinicopathological variables and genetic alterations in a large series of sporadic adenocarcinomas arising in the proximal colon. RII mutations were found in 17 per cent (36/210) of right-sided tumours and in 86 per cent (32/37) of those displaying RER+. They were associated with the absence of lymph node invasion (P = 0.04), poor histological differentiation (P = 0.006), and with a trend for improved patient survival. Tumours with an RII mutation also showed non-significant trends for a lower incidence of p53 protein overexpression and of p53, K-ras, and APC gene mutation compared with tumours with normal RII. These results indicate that right-sided colorectal tumours containing RII mutations resemble those with the RER+ phenotype in terms of their clinicopathological features and genetic alterations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenocarcinoma / metabolism
  • Adenocarcinoma / pathology
  • Aged
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / metabolism
  • Colorectal Neoplasms / pathology
  • Female
  • Follow-Up Studies
  • Humans
  • Male
  • Microsatellite Repeats / genetics
  • Middle Aged
  • Mutation*
  • Neoplasm Proteins / metabolism
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Receptors, Transforming Growth Factor beta / genetics*
  • Survival Rate
  • Tumor Suppressor Protein p53 / metabolism


  • Neoplasm Proteins
  • Receptors, Transforming Growth Factor beta
  • Tumor Suppressor Protein p53