A Rare Ovarian Mixed Sex Cord Stromal Tumor in a Patient with Ollier Disease: A Case Report.
Mixed sex-cord stromal tumor
Ollier Disease
gynandroblastoma
juvenile granulosa cell tumor
Journal
Journal of pediatric and adolescent gynecology
ISSN: 1873-4332
Titre abrégé: J Pediatr Adolesc Gynecol
Pays: United States
ID NLM: 9610774
Informations de publication
Date de publication:
02 Aug 2024
02 Aug 2024
Historique:
received:
06
02
2024
revised:
04
07
2024
accepted:
26
07
2024
medline:
5
8
2024
pubmed:
5
8
2024
entrez:
4
8
2024
Statut:
aheadofprint
Résumé
This is a case report of a 10-year-old with Ollier disease and an ovarian mass. Ollier disease, a rare disorder characterized by multiple enchondromas resulting in bone deformities, has been occasionally associated with ovarian juvenile granulosa cell tumor. This patient developed signs of precocious puberty and was found to have an ovarian tumor; however, pathology revealed a mixed sex-cord stromal tumor with components of juvenile granulosa and Sertoli-Leydig cell tumor. Tumor genomic testing revealed an IDH1 mutation. Mixed sex-cord stromal tumors of this type, also called "gynandroblastomas," have been associated with DICER1 mutations and DICER1 tumor predisposition syndrome but never with Ollier disease. Our findings expand the known spectrum of syndromic associations with this tumor type, with implications for tumor screening.
Identifiants
pubmed: 39098546
pii: S1083-3188(24)00259-6
doi: 10.1016/j.jpag.2024.07.009
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2024. Published by Elsevier Inc.