Polymorphism 1558 C > T in the aromatase gene (CYP19A1) in low-grade endometrial stromal sarcoma

Low-grade endometrial stromal sacomas (ESS) are estrogen-sensitive tumors. Polymorphic variation in the CYP19 gene can affect estrogen synthesis by increasing aromatase activity resulting in elevated levels of estrone and estradiol. We examined the polymorphism 1558 C > T in he aromatase gene (CYP19A1) in a series of 20 low-grade endometrial stromal sarcomas. Archival formalinfixed and paraffin-embedded material was analyzed with a fast real-time PCR system. The homozygous C/T- and the homozygous mutant T/T-genotypes were detected in 10/20 (50%) and 7/20 (35%) samples, respectively. Polymorphism 1558 C > T in the aromatase gene may represent a high-risk allele with increased local estrogen levels.