RESUMO
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.
Assuntos
Carcinoma in Situ/genética , Cromossomos Humanos Y/química , Gonadoblastoma/genética , Fator 3 de Transcrição de Octâmero/metabolismo , Síndrome de Turner/genética , Adolescente , Carcinoma in Situ/complicações , Carcinoma in Situ/patologia , Criança , Cromossomos Humanos Y/genética , Feminino , Gonadoblastoma/complicações , Gonadoblastoma/patologia , Humanos , Imuno-Histoquímica , Medição de Risco , Síndrome de Turner/complicações , Síndrome de Turner/patologiaRESUMO
The purpose of this study was to evaluate whether intraoperative nidus detection with a hand-held gamma probe was efficient enough for use as a routine procedure. Thirty-seven patients with osteoid-osteomas were submitted to surgical treatment. The first group consisted of 19 patients submitted to open nidus resection using a hand-held gamma probe as guide. The control group consisted of 18 patients operated on by conventional technique. The procedures were classified as successful if nidus resection could be confirmed by histology or postoperative imaging studies. Patients in the gamma group were followed for a mean of 13 months; patients in the control group for a mean of 39 months. In the gamma group, 17/19 procedures were successful; in the control group, only 12/18 procedures were successful. The gamma probe helped to locate the osteoid-osteoma nidus, and the same probe could be used in various hospitals.
