title: Two Cases of Carcinosarcomas of the Ovary Involved in Hereditary Cancer Syndromes.
abstract: Ovarian carcinosarcomas (OCS), also known as malignant mixed mesodermal/Müllerian tumors, are rare neoplasms (1%-4% of all malignant ovarian tumors) composed of high-grade malignant epithelial and mesenchymal elements. OCS occurs in older women. It is associated with a poor outcome and is usually not involved in inherited cancer syndromes. We present 2 cases of OCS; one arising in a patient with a pathogenetic BRCA1 mutation and the other in a woman affected by Lynch Syndrome (LS) carrying a MSH6 germline mutation. To the best of our knowledge, this is the first time that this second type of case has been reported. In this study, we investigated somatic impairment of the wild-type BRCA1 and MSH6 alleles in the OCS of these 2 patients. We also explored in both OCS, the occurrence of TP53 loss of function, which is a genetic alteration known to occur in BRCA-linked ovarian tumorigenesis but not in LS tumors. Moreover, we also provide further data about the histogenesis of OCS.
authors.affiliation: Unit of Pathology (I.W.C., C.L., S.N., L.L., C.R., M.G.T.), Ospedale di Circolo Varese-University of InsubriaUnit of Pathology (A.C.), Ospedale Sant'Anna ComoGynaecologic and Obstetric Clinic, University of Insubria (G.F.), Ospedale di Circolo, Varese, Italy.
authors.forename: Ileana W
authors.initials: IW
authors.lastname: Carnevali
authors.forename: Laura
authors.initials: L
authors.lastname: Cimetti
authors.forename: Nora
authors.initials: N
authors.lastname: Sahnane
authors.forename: Laura
authors.initials: L
authors.lastname: Libera
authors.forename: Alessandra
authors.initials: A
authors.lastname: Cavallero
authors.forename: Giorgio
authors.initials: G
authors.lastname: Formenti
authors.forename: Cristina
authors.initials: C
authors.lastname: Riva
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Tibiletti
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D002296:Carcinosarcoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000150:complications / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010053:Ovary / Q000473:pathology; D016159:Tumor Suppressor Protein p53 / Q000235:genetics / Q000378:metabolism
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; D016159:Tumor Suppressor Protein p53