The association between brain tumors and multiple colorectal adenomas can result from two distinct types of germ-line defects: mutation of the APC gene or mutation of a mismatch-repair gene. Molecular diagnosis may contribute to the appropriate care of affected patients.
Tumor cells in patients with hereditary nonpolyposis colorectal cancer (HNPCC) are characterized by a genetic hypermutability caused by defects in DNA mismatch repair. A subset of HNPCC patients was found to have widespread mutations not only in their tumors, but also in their non-neoplastic cells. Although these patients had numerous mutations in all tissues examined, they had very few tumors. The hypermutability was associated with a profound defect in mismatch repair at the biochemical level. These results have implications for the relation between mutagenesis and carcinogenesis, and they suggest that mismatch repair deficiency is compatible with normal human development.
Variable and total costs and length of stay were significantly lower in our population of patients who underwent DL as compared to NL. The rate of negative or nontherapeutic laparotomy was also significantly reduced when compared to the rate identified during the era prior to the use of laparoscopy. Laparoscopy resulted in an overall savings of $1,059 per laparoscopy performed when compared to laparotomy.
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