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Type: Artigo de periódico
Title: OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences
Author: Barros, BA
Moraes, SG
Coeli, FB
Assumpcao, JG
De Mello, MP
Maciel-Guerra, AT
Carvalho, AB
Viguetti-Campos, N
Vieira, TAP
Amstalden, EMI
Andrade, JGR
Esquiaveto-Aun, AM
Marques-de-Faria, AP
D'Souza-Li, LFR
Lemos-Marini, SHV
Guerra, G
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.
Subject: Turner syndrome
gonadal dysgenesis
Y chromosome
OCT4 antibody
Country: Inglaterra
Editor: Oxford Univ Press
Rights: fechado
Identifier DOI: 10.1093/humrep/der310
Date Issue: 2011
Appears in Collections:Unicamp - Artigos e Outros Documentos

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