Abstract | BACKGROUND: METHODS: Through a nationwide study including the French Society of Pediatric Oncology, 6/30 patients with JGCTO presented with clinical hyperandrogenism and high plasma testosterone. Tumor specimens underwent immunofluorescence (SOX9, FOXL2) and immunochemistry ( aromatase, P450scc, P450c17alpha). Results were compared with patients without hyperandrogenism. RESULTS: SOX9 was expressed in the granulosa cell nucleus in 2/6 cases but also in 9/24 tumors without hyperandrogenism (p=n.s.). FOXL2 was absent or decreased in 3/6 cases of JGCTO with hyperandrogenism with no statistical difference from the group without this symptom. In 6/6 patients, the intratumoral expression of aromatase was absent (n=5) or dramatically reduced (n=1). In contrast, 15/24 patients without virilization exhibited conserved aromatase expression in their tumor (p<0.05). A variable number of tumoral cells expressed P450scc while some interstitial cells were focally immunopositive for P450c17alpha. CONCLUSION: Unusual virilization in girls with JGCTO is not explained by a dysregulation in SOX9 or FOXL2 expression, but is related to a localized defect of aromatase expression in granulosa cells and to the ability of interstitial cells to produce testosterone.
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Authors | Nicolas Kalfa, Geri Méduri, Pascal Philibert, Catherine Patte, Brigitte Boizet-Bonhoure, Elisabeth Thibaut, Catherine Pienkowski, Francis Jaubert, Micheline Misrahi, Charles Sultan |
Journal | Hormone research in paediatrics
(Horm Res Paediatr)
Vol. 74
Issue 2
Pg. 83-91
( 2010)
ISSN: 1663-2826 [Electronic] Switzerland |
PMID | 20395670
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright (c) 2010 S. Karger AG, Basel. |
Chemical References |
- FOXL2 protein, human
- Forkhead Box Protein L2
- Forkhead Transcription Factors
- SOX9 Transcription Factor
- SOX9 protein, human
- Aromatase
- CYP17A1 protein, human
- Steroid 17-alpha-Hydroxylase
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Topics |
- Aromatase
(deficiency, genetics, metabolism)
- Child
- Child, Preschool
- Female
- Forkhead Box Protein L2
- Forkhead Transcription Factors
(genetics, metabolism)
- Granulosa Cell Tumor
(enzymology, genetics, pathology)
- Humans
- Hyperandrogenism
(enzymology, genetics, pathology)
- Immunohistochemistry
- Microscopy, Fluorescence
- Ovarian Neoplasms
(enzymology, genetics, pathology)
- Retrospective Studies
- SOX9 Transcription Factor
(genetics, metabolism)
- Steroid 17-alpha-Hydroxylase
(metabolism)
- Virilism
(metabolism)
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