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So far, somatic mutations of the  PTEN  gene have been found in several different neoplasms but not in colorectal tumours. As exons 7 and 8 of the  PTEN  coding sequence contain an (A) 6  repeat and mononucleotide repeat sequences are targets for mutations in tumours with microsatellite instability (MI), we screened a panel of sporadic colorectal tumours exhibiting MI to test whether  PTEN  gene repeats are frequently mutated in MI +  colorectal cancers. Of 32 cases studied, seven mutations were found in six (18.75%) patients, as a  PTEN  biallelic frameshift mutation was observed in one case, with consequent loss of function of the gene. Loss of heterozygosity, evaluated in the remaining five cases using the microsatellite marker  D10S541 , was detected in two of three informative samples. To further address the role of the  PTEN  gene in MI +  colorectal cancer, in the six patients with mutated  PTEN , we analysed the mononucleotide repeats of six other genes:  BAX ,  hMSH3 ,  hMSH6 ,  TGFbRII ,  IGFIIR  and  APC . In two of these six patients, mutations of the  TGFbRII  gene only were present, indicating that  PTEN  may have a role in the mutator pathway of colorectal tumorigenesis. Overall, these results indicate that  PTEN  mutations are selected for during tumorigenesis in MI +  colorectal tumours. The mutation of both  PTEN  alleles and evidence that the  PTEN  protein is expressed in normal colon suggest that loss of function of this gene could play a direct role in tumorigenesis.

Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis