Analysis of the genetic alterations in a case of juvenile multiple colon carcinoma with hypogammaglobulinemia

Background: We have previously reported the clinical characterization of a case of juvenile multiple colorectal carcinoma with hypogammaglobulinemia. Several recent studies have determined that agammaglobulinemia was caused by the loss of Bruton's tyrosine kinase (Btk) function. However, any genetic alterations associated with carcinoma formation in individuals with this immunodeficient disease have not been reported. Methods: DNA from eight carcinoma tissues and nine adenoma tissues from this reported case were examined for mutations in p53 by single strand conformation polymorphism analysis, K-ras by mutant allele specific analysis, and replication error or loss of heterozygosity of the TP53 locus on chromosome 17. Results: We found that p53 and K-ras were mutated in the carcinoma tissues. However, each tumor showed unequal and diverse results. Conclusions: The progression of individual tumor was not due to a common genetic event caused directly under the influence of the primary disease at the genetic level.