LI-FRAUMENI SYNDROME IN A PATIENT WITH FAMILIAL HYPERLIPIDEMIA FROM WESTERN IRAN, A CASE REPORT

Abstract

Mutations of germ-cell line TP53 gene are mainly reported in Li–Fraumeni syndrome(LFS). LFS-associated breast cancers are both hormone receptor and human epidermal growth factor receptor 2 positive. The purpose of this study is presentation of one case of LFS, associated with familialhy perlipidemias. A 52-year-old woman referred to clinic of oncology with a pain in the left breast. Her pathology report showed that she had breast cancer and computed tomography scan showed no evidence of metastasis. Markers of estrogen receptor, progesterone receptor and p53 were positive, IHC3+ and Ki67 in 20% of cells. We report the first case of a LFS patient with breast cancer and familial hyperlipidemias in Iran who ER, PR, P53 and HER-2 markers for her are positive. Also it is probably that LFS-associated cancer and atherosclerosis diseases are related to each other.KEYWORDS: Germ-Line Mutation, Hyperlipidemias, Li-Fraumeni Syndrome