title: OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences.
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.
authors.affiliation: Department of Pediatrics,  Faculty of Medical Sciences (FCM), University of Campinas (UNICAMP), Campinas, SP 13083-100,  Brazil.
authors.forename: B A
authors.initials: BA
authors.lastname: Barros
authors.forename: S G
authors.initials: SG
authors.lastname: Moraes
authors.forename: F B
authors.initials: FB
authors.lastname: Coeli
authors.forename: J G
authors.initials: JG
authors.lastname: Assumpção
authors.forename: M P
authors.initials: MP
authors.lastname: De Mello
authors.forename: A T
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: A B
authors.initials: AB
authors.lastname: Carvalho
authors.forename: N
authors.initials: N
authors.lastname: Viguetti-Campos
authors.forename: T A P
authors.initials: TA
authors.lastname: Vieira
authors.forename: E M I
authors.initials: EM
authors.lastname: Amstalden
authors.forename: J G R
authors.initials: JG
authors.lastname: Andrade
authors.forename: A M
authors.initials: AM
authors.lastname: Esquiaveto-Aun
authors.forename: A P
authors.initials: AP
authors.lastname: Marques-de-Faria
authors.forename: L F R
authors.initials: LF
authors.lastname: D'Souza-Li
authors.forename: S H V
authors.initials: SH
authors.lastname: Lemos-Marini
authors.forename: G
authors.initials: G
authors.lastname: Guerra
mesh_terms: D000293:Adolescent; D002278:Carcinoma in Situ / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002648:Child; D041322:Chromosomes, Human, Y / Q000737:chemistry* / Q000235:genetics; D005260:Female; D018238:Gonadoblastoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D050814:Octamer Transcription Factor-3 / Q000378:metabolism*; D018570:Risk Assessment; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D050814:Octamer Transcription Factor-3; C494173:POU5F1 protein, human