Analysis of microsatellite instability and loss of heterozygosity in uterine endometrial adenocarcinoma

Microsatellite: instability (MSI) and loss of heterozygosity (LOH) were exa mined in GO cases of uterine endometrial adenocarcinoma, using 13 microsate llite markers. in non-Smad-related regions, MSI and LOH were noted in 13 of 60 (21.7%) and in 20 of GO (33.3%) cases, respectively. Genetic alternatio n of TGF-P RII was noted in 1 of GO cases (1.7%). The frequency of MSI and LOH was highest in Stages III and IV, respectively. Cases with G2 carcinoma showed the highest frequency, but LOH frequency did not differ among G1, G Z, and G3 carcinoma cases. In Smad-related microsatellite regions. MSI and LOH were noted in 10 of 60 (16.7%) and in 12 of GO (20.0%) cases, respectiv ely. The frequency of MSI and LOH was highest in Stages III and IV, respect ively. LOH was seen only in the Smad2 gene but not in the Smad l gene. Our results suggest that the alterations in MSI and LOH were associated with mi ddle and late stages of carcinogenesis of endometrial carcinoma. Both MSI a nd LOH tended to show an association with moderate to severe atypia of carc inoma. Our results also suggest that genetic alteration of the Smad2 gene i s more responsible for endometrial carcinogenesis than that of the Smad4 ge ne, However, the TGF p type II receptor gene was considered a minor target of genetic instability in endometrial carcinogenesis. (C) 2001 Elsevier Sci ence Inc. All rights: reserved.