Absence of activating mutations in the hot spots of the LH receptor and Gs-alpha genes in Leydig cell tumors

Absence of activating mutations in the hot spots of the LH receptor and Gs-alpha genes in Leydig cell tumors

Author Vieira, TCA Autor UNIFESP Google Scholar
Cerutti, J. M. Autor UNIFESP Google Scholar
Silva, MRD da Autor UNIFESP Google Scholar
Delcelo, R. Autor UNIFESP Google Scholar
Abucham, J. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract Leydig-cell tumors are functioning endocrine tumors that produce T autonomously leading to isosexual precocity in boys and virilization in female patients. Molecular abnormalities such as activating mutations of the luteinizing hormone receptor (LHR), a G protein-coupled receptor, and of the Gs-alpha subunit of G protein have recently been described in these tumors. Both mutations cause continuous activation of the cAMP signaling cascade, autonomous production of T and cell proliferation. We searched for activating mutations in exon 11 of the LHR gene and in exons 8 and 9 of the Gs-alpha gene, which contain all hot spots for those mutations, in 4 Leydig cell tumors obtained from 4 patients (one boy with LH-independent precocious puberty and 3 women with virilization). DNA was extracted from paraffin-embedded neoplastic and non-neoplastic tissues and from peripheral lymphocytes. Hot spot regions of exons 11 of LHR and exons 8 and 9 of Gs-alpha genes were amplified by PCR and the purified PCR products were directly sequenced. No LHR or Gs-alpha gene mutations were found in the 4 tumors studied. Considering the previously reported mutations found in Leydig cell tumors, the absence of activating mutations in the hot spot regions for activating mutations in these tumors indicate molecular heterogeneity among Leydig cell tumors. (C) 2002, Editrice Kurtis.
Keywords Leydig cell tumor
LH receptor gene
Gs-alpha gene
precocious puberty
activating mutations
Language English
Date 2002-07-01
Published in Journal Of Endocrinological Investigation. Milan: Editrice Kurtis S R L, v. 25, n. 7, p. 598-602, 2002.
ISSN 0391-4097 (Sherpa/Romeo, impact factor)
Publisher Editrice Kurtis S R L
Extent 598-602
Origin http://dx.doi.org/10.1007/BF03345082
Access rights Closed access
Type Article
Web of Science ID WOS:000176710900011
URI http://repositorio.unifesp.br/11600/44350

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