title: Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT) Commonly Exhibits Positivity With Sex Cord Markers FOXL2 and SF-1 but Lacks FOXL2 and DICER1 Mutations.
abstract: Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare neoplasm which morphologically and immunohistochemically exhibits overlap with an ovarian sex cord tumor. Although many of these neoplasms are positive with markers of ovarian sex cord-stromal tumors, staining is often limited and the pathogenesis of UTROSCT is unknown. To further explore the sex cord lineage of UTROSCT, we studied 19 of these neoplasms and examined the expression of 2 recently described markers of ovarian sex cord-stromal tumors, FOXL2, and steroidogenic factor-1. We also undertook FOXL2 and DICER1 mutation analysis in these cases; a somatic missense mutation in codon C134W (402C→G) of FOXL2 gene has been demonstrated in the vast majority (>95%) of ovarian adult granulosa cell tumors and somatic DICER1 mutations are found in approximately 60% of ovarian Sertoli-Leydig cell tumors. Ten of 19 cases (53%) exhibited nuclear immunoreactivity with FOXL2 and 11 of 19 (58%) exhibited nuclear staining with steroidogenic factor-1. Neither FOXL2 nor DICER1 mutations were identified in any case where there was sufficient tumor tissue for analysis (18 and 9 cases, respectively). Despite exhibiting an immunophenotype characteristic of a sex cord-stromal tumor, mutations in FOXL2 and DICER1, the 2 most common mutations hitherto reported in ovarian sex cord-stromal tumors, are not a feature of UTROSCT.
authors.affiliation: Department of Pathology (S.C., I.H., V.V.), Centre Regional de Lutte Contre Le Cancer, Bordeaux, France Department of Human Genetics (L.d.K., W.D.F.), McGill University Segal Cancer Centre (L.d.K., W.D.F.), Lady Davis Institute, Jewish General Hospital Department of Medical Genetics (T.B., W.D.F.), Research Institute of the McGill University Health Centre Program in Cancer Genetics (W.D.F.), Department of Oncology and Human Genetics, McGill University, Montreal, QC, Canada Department of Pathology (W.G.M.C.), Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Croce
authors.forename: Leanne
authors.initials: L
authors.lastname: de Kock
authors.forename: Talia
authors.initials: T
authors.lastname: Boshari
authors.forename: Isabelle
authors.initials: I
authors.lastname: Hostein
authors.forename: Valerie
authors.initials: V
authors.lastname: Velasco
authors.forename: William D
authors.initials: WD
authors.lastname: Foulkes
authors.forename: W Glenn
authors.initials: WG
authors.lastname: McCluggage
mesh_terms: D000328:Adult; D053487:DEAD-box RNA Helicases / Q000235:genetics / Q000378:metabolism*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics / Q000378:metabolism*; D006106:Granulosa Cell Tumor / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D009154:Mutation; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D043244:Ribonuclease III / Q000235:genetics / Q000378:metabolism*; D018312:Sex Cord-Gonadal Stromal Tumors / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D054339:Steroidogenic Factor 1 / Q000235:genetics / Q000378:metabolism; D014594:Uterine Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D014599:Uterus / Q000378:metabolism / Q000473:pathology
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D054339:Steroidogenic Factor 1; C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases