title: Microsatellite instability analysis for the screening of synchronous endometrial and ovarian cancer in Lynch syndrome.
abstract: We report on a case of synchronous endometrial and ovarian cancer in a patient with Lynch syndrome. An endometrial biopsy performed during routine screening revealed microsatellite instability (MSI) and loss of expression of human mutL homolog-1 (MLH1) and postmeiotic segregation increased-2 (PMS2) in a setting of complex hyperplasia. Whereas gynaecological screening including clinical examination, pelvic ultrasound, and endometrial biopsy, has not proven its benefit, our case report points out the place of MSI analysis and immunohistochemical investigation of mismatch repair protein expression in endometrial samples during gynaecological screening.
authors.affiliation: Service de Chirurgie Cancérologique Gynécologique et du Sein, Hôpital Européen Georges-Pompidou, 20-40 rue Leblanc, 75015 Paris, France. anne-sophie.bats@egp.aphp.fr.
authors.forename: Anne-Sophie
authors.initials: AS
authors.lastname: Bats
authors.forename: Helene
authors.initials: H
authors.lastname: Roussel
authors.forename: Celine
authors.initials: C
authors.lastname: Narjoz
authors.forename: Marie-Aude
authors.initials: MA
authors.lastname: Le Frere-Belda
authors.forename: Foucauld
authors.initials: F
authors.lastname: Chamming's
authors.forename: Helene
authors.initials: H
authors.lastname: Blons
authors.forename: Pierre
authors.initials: P
authors.lastname: Laurent-Puig
authors.forename: Fabrice
authors.initials: F
authors.lastname: Lecuru
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000328:Adult; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000150:complications*; D053843:DNA Mismatch Repair; D016889:Endometrial Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D053842:Microsatellite Instability; D000070957:MutL Protein Homolog 1; D009687:Nuclear Proteins / Q000235:genetics; D010051:Ovarian Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000601:surgery
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1
keywords: Lynch syndrome; endometrial cancer; microsatellite instability; ovarian cancer; synchronous tumour