MUTATIONS OF THE ESTROGEN-RECEPTOR IN ENDOMETRIAL CARCINOMA - EVIDENCE OF AN ASSOCIATION WITH HIGH TUMOR GRADE

The majority (60-70%) of endometrial cancers express estrogen receptor . Typically, estrogen-receptor-positive endometrial tumors are associa ted with a more favorable outcome, Despite this, there is often a disc repancy between estrogen receptor expression and clinical outcome of t he disease, Although little is known about the exact role of the estro gen receptor in endometrial malignancies, in breast cancer, where such information is abundant, a number of mutations of the estrogen recept or have been identified. To investigate whether mutations of the estro gen receptor gene occur in endometrial cancers we performed single-str anded conformational polymorphism analysis (SSCP) on 35 human endometr ial tumors. We detected four point mutations in three different patien ts. Interestingly, all the mutations were detected in patients who had aggressive endometrial tumors (grade 3). Although we found the incide nce of mutations of the estrogen receptor to be low (8.5%) and thus un likely to be associated with the majority of endometrial cancers, furt her investigation is needed to elucidate the role of aberrant estrogen receptor expression in the progression of endometrial malignancies. ( C) 1996 Academic Press, Inc.