title: Molecular-cytogenetic characterisation of sex cord-stromal tumours: CGH analysis in sertoli cell tumours of the testis.
abstract: Sertoli cell tumours (SCT) are rare and poorly explored neoplasias, and the genetic features of these uncommon tumours are largely unknown. Data about chromosomal aberrations in human SCT of the testis are very rare. We present in this paper the first molecular-cytogenetic study of SCT of the testis. DNA was isolated from paraffin-embedded tumour material from 11 patients with unilateral SCT. We used comparative genomic hybridisation to investigate changes in DNA copy number. The detected DNA imbalances showed variation from case to case, indicating a high genetic heterogeneity. Chromosomal aberrations were detected in 9 of the 11 tumours evaluated, with 13 losses versus 14 gains. The most frequent aberrations detected were gain of chromosome X (5 of 11 cases) followed by losses of entire or part of chromosomes 2 and 19 in three cases. This study suggests a high variability in histomorphological and genetic patterns. Only gain of the entire chromosome X seems to be a frequent aberration in these tumours. Further studies of these tumour types are necessary to clarify the significance of chromosomal alterations in carcinogenesis of SCT.
authors.affiliation: Institute of Pathology, Medical University of Innsbruck, Muellerstrasse 44, 6020, Innsbruck, Austria. Irmgard.Verdorfer@i-med.ac.at
authors.forename: I
authors.initials: I
authors.lastname: Verdorfer
authors.forename: A
authors.initials: A
authors.lastname: Höllrigl
authors.forename: U
authors.initials: U
authors.lastname: Strasser
authors.forename: M
authors.initials: M
authors.lastname: Susani
authors.forename: A
authors.initials: A
authors.lastname: Hartmann
authors.forename: H
authors.initials: H
authors.lastname: Rogatsch
authors.forename: G
authors.initials: G
authors.lastname: Mikuz
mesh_terms: D000328:Adult; D000368:Aged; D064032:Calbindin 2; D002675:Child, Preschool; D002869:Chromosome Aberrations; D015894:Genome, Human; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007265:Inhibins / Q000032:analysis; D007633:Keratins / Q000032:analysis; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization / Q000379:methods; D064030:S100 Calcium Binding Protein G / Q000032:analysis; D012707:Sertoli Cell Tumor / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D013736:Testicular Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D014746:Vimentin / Q000032:analysis
chemical_list: D064032:Calbindin 2; D064030:S100 Calcium Binding Protein G; D014746:Vimentin; C094377:inhibin-alpha subunit; D007265:Inhibins; D007633:Keratins