TITLE

OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences

AUTHOR(S)
Barros, B.A.; Moraes, S.G.; Coeli, F.B.; Assumpção, J.G.; De Mello, M.P.; Maciel-Guerra, A.T.; Carvalho, A.B.; Viguetti-Campos, N.; Vieira, T.A.P.; Amstalden, E.M.I.; Andrade, J.G.R.; Esquiaveto-Aun, A.M.; Marques-de-Faria, A.P.; D'Souza-Li, L.F.R.; Lemos-Marini, S.H.V.; Guerra-Junior, G.
PUB. DATE
December 2011
SOURCE
Human Reproduction;Dec2011, Vol. 26 Issue 12, p3450
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
BACKGROUND The aim of this study was to investigate the frequency of gonadal tumors among patients with Turner syndrome (TS) carrying Y-derivative sequences in their chromosomal constitution. METHODS Six out of 260 patients with TS were selected based on mosaicism of the entire Y chromosome; 10 were included because Y-derivative sequences have been detected by PCR with specific oligonucleotides (sex-determining region on the Y, testis specific-protein, Y and DYZ3) and further confirmed by FISH. The 16 patients were subjected to bilateral gonadectomy at ages varying from 8.7 to 18.2 years. Both histopathological investigation with hematoxylin and eosin (H&E) and immunohistochemical analysis with anti-octamer-binding transcription factor 4 (OCT4) antibody were performed. RESULTS Gonadal neoplasia was not detected in any of the 32 gonads evaluated by H&E; however, four gonads (12%) from three patients (19%) had positive OCT4 staining in 50–80% of nuclei, suggesting the existence of germ cell tumors (gonadoblastoma or in situ carcinoma). CONCLUSIONS Evaluation of the real risk of development of gonadal tumors in TS patients with Y-derivative sequences in their chromosomal constitution may require a specific histopathological study, such as immunohistochemistry with OCT4.
ACCESSION #
67286616

 

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