Journal of Clinical Endocrinology and Metabolism
| Autor: | Fragoso, Maria Candida B. Villares, Latronico, Ana Claudia, Carvalho, Filomena Marino, Zerbini, Maria Claudia N., Marcondes, Jose Antonio Miguel, Araujo, Leila M. B., Lando, Valeria S., Frazzatto, Eliana T., Mendonca, Berenice B., Villares, Sandra Mara F. |
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| Jazyk: | angličtina |
| Rok vydání: | 1998 |
| Zdroj: | Repositório Institucional da UFBA Universidade Federal da Bahia (UFBA) instacron:UFBA |
| DOI: | 10.1210/jc.83.6.2074 |
| Popis: | Texto completo: acesso restrito. p.2074-2078 Submitted by Suelen Reis (suelen_suzane@hotmail.com) on 2013-01-30T13:43:52Z No. of bitstreams: 1 Fragoso.pdf: 982718 bytes, checksum: 057e6284017c9d1b55d415d7986a14c0 (MD5) Approved for entry into archive by Fatima Cleômenis Botelho Maria (botelho@ufba.br) on 2013-01-31T13:00:40Z (GMT) No. of bitstreams: 1 Fragoso.pdf: 982718 bytes, checksum: 057e6284017c9d1b55d415d7986a14c0 (MD5) Made available in DSpace on 2013-01-31T13:00:40Z (GMT). No. of bitstreams: 1 Fragoso.pdf: 982718 bytes, checksum: 057e6284017c9d1b55d415d7986a14c0 (MD5) Previous issue date: 1998 Activating mutations of the G protein genes have been associated with the development of several endocrine neoplasms. Such activating mutations, gip2, affecting the α-subunit of the Gαi2 protein were previously described by a single group in 30% of ovarian sex cord stromal tumors. Other activating mutations of the α-subunit of the Gs (gsp) have been identified in GH-secreting and nonfunctioning pituitary tumors, autonomous thyroid adenomas, and all affected McCune-Albright tissues, but not in sex cord stromal tumors. In the present study, we investigated the presence of gip2 and gsp mutations in 14 human sex cord stromal tumors. Six Leydig cell tumors (4 ovaries and 2 testes), 2 thecomas, 2 granulosa cell tumors, 3 androblastomas, and 1 gonadoblastoma (sex cord and germ cell) were included in this study. Genomic DNA was obtained from either fresh-frozen tumor tissues or paraffin-embedded sections and in some cases from blood samples. Using PCR, denaturing gradient gel electrophoresis, and direct sequencing, we detected 4 tumors (66.6%) with the gsp mutation (R201C) in our series of ovarian and testicular Leydig cell tumors. In contrast, no gip2 mutations were found in any of the sex cord stromal tumors studied. In conclusion, our findings suggest that the putative oncogene gsp may play a significant role in the molecular mechanism of these tumors. |
| Databáze: | OpenAIRE |
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