Table 3

Molecular changes and immunohistochemical (IHC) expression of p53 and Smad4 in the five studied Peutz-Jeghers syndrome related carcinomas

Patient with STK11/LKB1 germline mutation19p LOH5q LOH/APC mutational analysis (DGGE)K-ras codon 12 mutation18q LOH/IHC Smad 4 expression17p LOH/IHC p53 overexpression/p53 mutation exons 5–8
*Fragment S4 from the APC mutation cluster region is non-informative.
DGGE, denaturing gradient gel electrophoresis; LOH, loss of heterozygosity.
Stomach carcinomaUnknown+−/+−/+−/−/−
Small bowel carcinoma++−/−*−/+−/+/−
Pancreas carcinoma++−/+−/+−/−/−
Colon carcinoma++−/++/+−/−/−
Colon carcinoma (fresh frozen)Unknown+−/+ (truncationof segment 2)+−/+−/−/−