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
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

1286515

Informations 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.

Auteurs

Jinghua Li (J)

Department of Obstetrics and Gynecology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Haipeng Zhu (H)

Centre for Personalized Cancer Therapy, Ciming Boao International Hospital, Lecheng International Medical Tourism Pilot Zone, Qionghai, Hainan, China.
P&A Consulting, Adelaide, SA, Australia.

Xuelian Ma (X)

Department of Obstetrics and Gynecology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Jia Li (J)

Department of Pathology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Jing Xue (J)

Department of Radiology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Limin Feng (L)

Department of Obstetrics and Gynecology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Classifications MeSH