title: ESR1 gene amplification in endometrial carcinomas: a clinicopathological analysis.
abstract: This study investigated the clinicopathological significance of estrogen receptor 1 (ESR1) gene amplification and its relationship to phosphatase and tensin homolog (PTEN), human epidermal growth factor receptor 2 (HER2), MutL homolog 1 (MLH1), p53, and AT rich interactive domain 1A (ARID1A) expression in endometrial carcinomas. ESR1 amplification and expression were assessed by fluorescence in situ hybridization and immunohistochemistry. Clinical data were collected by retrospective chart review. ESR1 amplification was identified in 13 out of 111 (11.7%) endometrial carcinomas. No significant association was observed between ESR1 amplification and International Federation of Gynecology and Obstetrics (FIGO) stage (p=0.17), histological grade (p=0.35), lymph node metastasis (p=0.51), or deep myometrial invasion (p=0.46). ESR1 amplification was independent of PTEN, p53, HER2, MLH1, and ARID1A protein expression. Patients without estrogen receptor (ER) or progesterone receptor (PR) expression had shorter progression-free and overall survival than those with ER or PR expression (p<0.01). ESR1 amplification is independent of known clinicopathological factors related to poor prognosis and PTEN, p53, HER2, MLH1, and ARID1A protein expression, suggesting ESR1 amplification may be an early event in endometrial carcinoma development.
authors.affiliation: Shimane University School of Medicine, Enyacho 89-1, Izumo, Shimane, 6938501 Japan. kn88@medshimane-u.ac.jp.
authors.forename: Mohammed Tanjimur
authors.initials: MT
authors.lastname: Rahman
authors.forename: Kentaro
authors.initials: K
authors.lastname: Nakayama
authors.forename: Munmun
authors.initials: M
authors.lastname: Rahman
authors.forename: Masako
authors.initials: M
authors.lastname: Ishikawa
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Katagiri
authors.forename: Atsuko
authors.initials: A
authors.lastname: Katagiri
authors.forename: Tomoka
authors.initials: T
authors.lastname: Ishibashi
authors.forename: Emi
authors.initials: E
authors.lastname: Sato
authors.forename: Kouji
authors.initials: K
authors.lastname: Iida
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Ishikawa
authors.forename: Naomi
authors.initials: N
authors.lastname: Nakayama
authors.forename: Kohji
authors.initials: K
authors.lastname: Miyazaki
mesh_terms: D016889:Endometrial Neoplasms / Q000235:genetics* / Q000473:pathology; D047628:Estrogen Receptor alpha / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005784:Gene Amplification; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008207:Lymphatic Metastasis; D008875:Middle Aged; D009362:Neoplasm Metastasis; D011980:Receptors, Progesterone / Q000378:metabolism; D012189:Retrospective Studies
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D011980:Receptors, Progesterone
keywords: ER/PR; ESR1; endometrial carcinoma; gene amplification