Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome.
Gonadoblastomas are seen almost exclusively in dysgenetic gonads of patients with a chromosomal mosaicism of 45,X and an additional Y-bearing cell line. This paper presents a case of a Turner mosaic patient with 45,X/46,X,+mar karyotype, who developed a unilateral microscopic gonadoblastoma. Cytogenetic and molecular analysis confirmed a Y-chromosomal origin of the marker chromosome, with a deletion of the distal Yq arm and the proposed region of a so far undefined gonadoblastoma locus (GBY) present. One of the candidate genes within the postulated GBY region is TSPY (testis-specific protein Y-encoded). To study the TSPY protein expression, an anti-fusion protein antibody was used for immunohistochemistry of the patient's gonads. In contrast to the dysgenetic gonad, an intense immunoreaction was found in gonadoblastoma tumour cells of the other gonad. These results confirm the high level of TSPY protein expression by these cells and demonstrate the value of this antibody as an additional marker to confirm the diagnosis of gonadoblastoma.
Hildenbrand
R
R
Department of Pathology, University Hospital, Frankfurt/M., Germany.
Schröder
W
W
Brude
E
E
Schepler
A
A
König
R
R
Stutte
H J
HJ
Arnemann
J
J
D000293:Adolescent; D015415:Biomarkers / Q000032:analysis; D018797:Cell Cycle Proteins; D020732:Cytogenetic Analysis; D004268:DNA-Binding Proteins / Q000032:analysis*; D005260:Female; D017353:Gene Deletion; D018238:Gonadoblastoma / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D009687:Nuclear Proteins; D010051:Ovarian Neoplasms / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014424:Turner Syndrome / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D014998:Y Chromosome
D015415:Biomarkers; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; C497749:TSPY1 protein, human; D014157:Transcription Factors