Complex immunohistochemical and molecular study on 5 cases of ovarian juvenile granulosa cell tumors reveals a consistent alteration in the PI3K/AKT/mTOR signaling pathway
Rattachement africain : cz. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
BACKGROUND: Juvenile granulosa cell tumor (JGCT) of the ovary is a rare tumor with distinct clinicopathological and hormonal features primarily affecting young women and children. We conducted a complex clinicopathological, immunohistochemical, and molecular analysis of five cases of JGCT. METHODS: The immunohistochemical examination was performed with 32 markers, including markers that have not been previously investigated. Moreover, DNA next-generation sequencing (NGS) and PTEN methylation analysis was performed. RESULT: We found the expression of calretinin, inhibin A, SF1, FOXL2, CD99, CKAE1/3, ER, PR, AR in all cases. WT1 was expressed in one case. Conversely, the expression of p16, OCT3/4, SALL4, GATA3, Napsin A, SATB2, MUC4, TTF1, and CAIX was completely negative. All tumors showed the wild-type pattern of p53 expression. Regarding predictive markers, all tumors were HER2 negative and did not express PD-L1. Mismatch repair proteins (MMR) showed no loss or restriction of expression, similarly to ARID1A, DPC4, BRG1, and INI1. The molecular analysis revealed AKT1 internal tandem duplication in two tumors. Two other cases exhibited mutations in TERT and EP400 and both developed recurrence. All AKT1-wild type tumors exhibited immunohistochemical loss of PTEN expression. However, no mutations, deletions (as assessed by CNV analysis), or promoter hypermethylation in the PTEN gene were detected. CONCLUSION: The results of our study further support the hypothesis that the pathogenesis of JGCT may be driven by activation of the PIK3/AKT/mTOR pathway. These findings could potentially have future therapeutic implications, as treatment strategies targeting the PTEN/mTOR pathways are currently under investigation.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Complex immunohistochemical and molecular study on 5 cases of ovarian juvenile granulosa cell tumors reveals a consistent alteration in the PI3K/AKT/mTOR signaling pathway
- Date Crossref
- 08/01/2025
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Charles University Department of Pathology pays non établi dans la noticeUniversité ou école supérieure
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General University Hospital in Prague pays non établi dans la noticeOrganisme public
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Thomayer University Hospital pays non établi dans la noticeÉtablissement de santé
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University Hospital Kralovske Vinohrady pays non établi dans la noticeÉtablissement de santé
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Masaryk University pays non établi dans la noticeUniversité ou école supérieure
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University Hospital Brno Department of Pathology pays non établi dans la noticeÉtablissement de santé
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First Faculty of Medicine Department of Pathology pays non établi dans la noticeUniversité ou école supérieure
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The Faculty of Medicine and Faculty Hospital in Pilsen Šikl's Department of Pathology pays non établi dans la noticeUniversité ou école supérieure
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Third Faculty of Medicine Department of Pathology and Molecular Medicine pays non établi dans la noticeUniversité ou école supérieure
Department of Pathology — Charles University, General University Hospital in Prague et Thomayer University Hospital, avec 6 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.