Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma

• Published in: Cytogenetic and genome research Vol. 91; no. 1-4; pp. 160 - 164
• Main Authors: LAU, Y.-F. C, CHOU, P. M, IEZZONI, J. C, ALONZO, J. A, KÖMÜVES, L. G
• Format: Journal Article
• Language: English
• Published: Freiburg Karger 01.01.2000; Basel S. Karger AG; Paris
• Subjects: Biological and medical sciences; Cell Cycle Proteins; DNA-Binding Proteins - analysis; DNA-Binding Proteins - genetics; Female; Gene Expression; Genetic Predisposition to Disease - genetics; Genotype; Germ Cells - chemistry; Germ Cells - metabolism; Germ Cells - pathology; gonadoblastoma; Gonadoblastoma - chemistry; Gonadoblastoma - genetics; Gonadoblastoma - pathology; Gynecology. Andrology. Obstetrics; Humans; Immunohistochemistry; Male; Male genital diseases; Medical sciences; Mosaicism - genetics; Neoplasm Proteins - analysis; Neoplasm Proteins - genetics; Nuclear Proteins; Phenotype; seminoma; Seminoma - chemistry; Seminoma - genetics; Seminoma - pathology; Sex-Determining Region Y Protein; Testicular Neoplasms - chemistry; Testicular Neoplasms - genetics; Testicular Neoplasms - pathology; Transcription Factors; TSPY gene; Tumors; Y Chromosome - genetics; Gonadoblastoma; Human; Gene; Y-Chromosome; Malignant tumor; Germinal cell; Gene expression; Male genital diseases; Carcinogenesis; Testicular diseases
• ISSN: 0301-0171; 1424-8581; 1424-859X
• DOI: 10.1159/000056838

The gonadoblastoma locus on the Y chromosome (GBY) predisposes the dysgenetic gonads of XY females to develop in situ tumors. It has been mapped to a critical interval on the short arm and adjacent centromeric region on the Y chromosome. Currently there are five functional genes identified on the GBY critical region, thereby providing likely candidates for this cancer predisposition locus. To evaluate the candidacy of one of these five genes, testis-specific protein Y-encoded (TSPY), as the gene for GBY, expression patterns of TSPY in four gonadoblastoma from three patients were analyzed by immunohistochemistry using a TSPY specific antibody. Results from this study showed that TSPY was preferentially expressed in tumor germ cells of all gonadoblastoma specimens. Additional study on two cases of testicular seminoma demonstrated that TSPY was also abundantly expressed in all stages of these germ cell tumors. The present observations suggest that TSPY may either be involved in the oncogenesis of or be a useful marker for both types of germ cell tumors.