title: Expression of SALL4 and SF-1 in gonadoblastoma: useful markers in the identification of the invasive germ cell component.
abstract: Gonadoblastoma is a rare gonadal neoplasm composed of primordial germ cells and sex cord-stromal cells and usually occurs in patients with dysgenetic gonads. When patients with gonadoblastoma develop an invasive germ cell tumor, the invasive germ cell component can take the form of dysgerminoma/seminoma, embryonal carcinoma, or yolk sac tumor. In this study, we performed immunohistochemical analysis for SALL4 and steroidogenic factor-1 (SF-1) on 4 cases of gonadoblastoma to examine the expression patterns of these proteins. All of the patients were phenotypically female. One patient had Swyer syndrome, the rest had Turner syndrome. The primordial germ cell component was histologically similar to cells in dysgerminoma/seminoma in these 4 cases. Two patients showed the invasive component-dysgerminoma. As expected, SALL4 stained the germ cells and SF-1 stained the sex cord-stromal cells. There was a clear distinction between the staining patterns of these 2 cell populations. This study demonstrates the utility of SALL4 and SF-1 in determining whether or not there is an invasion in the primordial germ cell component.
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Shuting
authors.initials: S
authors.lastname: Bai
authors.forename: Shi
authors.initials: S
authors.lastname: Wei
authors.forename: Amy
authors.initials: A
authors.lastname: Ziober
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yao
authors.forename: Zhanyong
authors.initials: Z
authors.lastname: Bing
mesh_terms: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000378:metabolism*; D002114:Calcinosis; D004407:Dysgerminoma / Q000378:metabolism* / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006061:Gonadal Dysgenesis, 46,XY; D018238:Gonadoblastoma / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D059785:Karyotype; D010051:Ovarian Neoplasms / Q000378:metabolism* / Q000473:pathology; D010053:Ovary / Q000378:metabolism* / Q000473:pathology; D010641:Phenotype; D018312:Sex Cord-Gonadal Stromal Tumors / Q000378:metabolism* / Q000473:pathology; D054339:Steroidogenic Factor 1 / Q000378:metabolism; D014157:Transcription Factors / Q000378:metabolism; D014424:Turner Syndrome
chemical_list: D014408:Biomarkers, Tumor; C472575:SALL4 protein, human; D054339:Steroidogenic Factor 1; D014157:Transcription Factors