title: The role of beta-catenin mutation and SOX9 expression in sex cord-stromal tumours of the testis.
abstract: The WHO classification of testis tumours includes the group of sex cord-stromal tumours. They are divided into several histological types, i.e. Leydig cell (LCT) and Sertoli cell tumours (SCT). Based on the physiological expression of β-catenin in normal testis/Sertoli cells, it was previously shown that SCT can carry a β-catenin mutation, causing a nuclear positivity for β-catenin and cyclin D1. Furthermore, it could be shown that the stabilization of β-catenin in Sertoli cells causes the loss of the Sertoli cell marker SOX9. We wanted to know whether the stabilization of β-catenin in sex cord-stromal tumours influences SOX-9 expression and thus could be used in the diagnosis of sex cord-stromal tumours. Therefore, 53 cases of sex cord-stromal tumours and tumour-like lesions were investigated for their immunohistochemical expressions of β-catenin, cyclin D1 and SOX9. In addition, mutation analyses of the β-catenin gene (exon 3; CTNNB1) were performed. β-catenin mutation in SCT results in nuclear β-catenin and cyclin-D1 expressions on immunohistochemical analysis. The nuclear expression/stabilization of β-catenin causes the loss of SOX9 in these tumours. In contrast, SOX9 is considerably expressed in non-mutated SCT as well as in Sertoli cells of non-neoplastic testes. In summary, immunohistochemical analyses of β-catenin and SOX9 are useful to distinguish SCT from other sex cord-stromal tumours of the testis. Furthermore, the presence of SOX9 indicates that the cells of origin may be Sertoli cells.
authors.affiliation: Institute of Pathology, University Medical Center Göttingen, Robert-Koch-Str.40, 37075, Göttingen, Germany. felix.bremmer@med.uni-goettingen.de.
authors.forename: F
authors.initials: F
authors.lastname: Bremmer
authors.affiliation: Institute of Pathology, University Medical Center Göttingen, Robert-Koch-Str.40, 37075, Göttingen, Germany.
authors.forename: C L
authors.initials: CL
authors.lastname: Behnes
authors.affiliation: Institute of Pathology, University Medical Center Göttingen, Robert-Koch-Str.40, 37075, Göttingen, Germany.
authors.forename: H U
authors.initials: HU
authors.lastname: Schildhaus
authors.affiliation: Institute of Pathology, RWTH Aachen University, Pauwelsstrasse 30, 52074, Aachen, Germany.
authors.forename: N T
authors.initials: NT
authors.lastname: Gaisa
authors.affiliation: Institute of Pathology, University Hospital of Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Reis
authors.affiliation: Experimental Endocrinology, University Medical Center Göttingen, Robert-Koch-Str.40, 37075, Göttingen, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Jarry
authors.affiliation: Institute of Pathology, University Medical Center Göttingen, Robert-Koch-Str.40, 37075, Göttingen, Germany.
authors.forename: H J
authors.initials: HJ
authors.lastname: Radzun
authors.affiliation: Institute of Pathology, University Medical Center Göttingen, Robert-Koch-Str.40, 37075, Göttingen, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Stroebel
authors.affiliation: Gemeinschaftspraxis Pathologie, Am Fuchsengraben 3, 82319, Starnberg, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Schweyer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000032:analysis*; D004252:DNA Mutational Analysis; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055758:SOX9 Transcription Factor / Q000032:analysis / Q000096:biosynthesis*; D018312:Sex Cord-Gonadal Stromal Tumors / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D013736:Testicular Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D051176:beta Catenin / Q000032:analysis / Q000096:biosynthesis*
chemical_list: D014408:Biomarkers, Tumor; C495270:CTNNB1 protein, human; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D051176:beta Catenin
keywords: Beta-catenin; Cyclin D1; Immunohistochemistry; Leydig cell tumours; SOX9; Sertoli cell tumours