The PTEN, BAX, and IGFIIR genes are mutated in endometrial atypical hyperplasia.

To pursue the pathogenesis of endometrial carcinogenesis, we investigated microsatellite instability, mutations in the PTEN, TGF beta RII, IGFIIR, and BAX genes, and LOHs on 10q in 18 putative endometrial premalignant lesions (11 endometrial atypical hyperplasias (ATHs), 2 complex hyperplasias, and 5 simple hyperplasias) as well as 8 endometrial cancers (ECs). In the ATH cases, MSIs as well as LOHs at 10q were observed at frequencies similar to those in ECs. Mutations in PTEN, BAX, and IGFIIR were observed only in ATHs and ECs. These results suggest that (1) PTEN, BAX, and IGFIIR are already mutated in ATHs, and (2) ATH is one of the precursor lesions which could lead to EC.

atypical hyperplasia

BCL2‐associated X protein

complex hyperplasia

endometrial carcinoma

endometrial hyperplasia

insulin‐like growth factor II receptor

loss of heterozygosity

microsatellite instability

polymerase chain reaction

phosphatase and tensin homolog deleted on chromosome ten

simple hyperplasia

transforming growth factor β receptor type II