Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma.
KIT mutation
Turner syndrome
dysgerminoma
epilepsy
uterus didelphys
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2023
2023
Historique:
received:
01
09
2023
accepted:
14
12
2023
medline:
29
1
2024
pubmed:
29
1
2024
entrez:
29
1
2024
Statut:
epublish
Résumé
Dysgerminoma is a rare occurrence in Turner syndrome patients without Y chromosome mosaicism or hormone therapy during puberty. We present a unique case of a 33-year-old nulliparous Chinese woman with intermittent epilepsy and Mullerian anomalies carrying a double uterus, cervix, and vagina. The patient is also characterized as having Turner syndrome accompanied by 46,X, del(Xp22.33-11.23) and del(2)(q11.1-11.2). MRI exhibited a 17.0 cm × 20.0 cm × 10.5 cm solid ovarian lesion. Radical surgery and pathology revealed dysgerminoma at stage IIIc with lymphatic metastases and a KIT gene mutation identified in exon 13. Furthermore, the tumor microenvironment (TME) displayed robust expression of CD4
Identifiants
pubmed: 38283145
doi: 10.3389/fgene.2023.1286515
pii: 1286515
pmc: PMC10812115
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1286515Informations de copyright
Copyright © 2024 Li, Zhu, Ma, Li, Xue and Feng.
Déclaration de conflit d'intérêts
Author HZ was employed by P&A Consulting. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.