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Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y‐derived marker chromosome
Author(s) -
Hildenbrand R.,
Schröder W.,
Brude E.,
Schepler A.,
König R.,
Stutte H. J.,
Arnemann J.
Publication year - 1999
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/(sici)1096-9896(199912)189:4<623::aid-path475>3.0.co;2-#
Subject(s) - gonadoblastoma , turner syndrome , y chromosome , mosaic , testis determining factor , chromosome , biology , genetics , karyotype , art , gene , endocrinology , visual arts
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. Copyright © 1999 John Wiley & Sons, Ltd.