Uterine tumor resembling high-grade endometrial mesenchymal sarcoma with GATAD2B-MMRN1 fusion.
GATAD2B-MMRN1 fusion
Uterine sarcomas
gene rearrangement
next-generation sequencing
Journal
International journal of clinical and experimental pathology
ISSN: 1936-2625
Titre abrégé: Int J Clin Exp Pathol
Pays: United States
ID NLM: 101480565
Informations de publication
Date de publication:
2023
2023
Historique:
received:
10
07
2023
accepted:
24
08
2023
medline:
11
10
2023
pubmed:
11
10
2023
entrez:
11
10
2023
Statut:
epublish
Résumé
Uterine sarcomas are a group of rare malignant tumors of mesenchymal tissue of the uterus, and their diagnosis is often difficult because they have variable morphologies and no typical immunophenotype. This report describes a 48-year-old woman who underwent laparoscopic myomectomy and relapsed within 5 years with a large mass in the pelvic cavity. Morphologically, the tumor was composed of oval cells and small arteries, and the cells showed moderate to severe atypia. Immunohistochemical results showed that the tumor cells expressed desmin, smooth muscle actin, and h-caldesmon, which supported myogenic differentiation. They were strongly positive for Cyclin D1, estrogen receptors (ER), and estrogen receptors (PR), supporting their origin from uterine mesenchymal cells. Next-generation sequencing (NGS) revealed a GATAD2B::MMRN1 rearrangement. The patient was diagnosed with uterine sarcoma resembling high-grade endometrial mesenchymal sarcoma with a GATAD2B-MMRN1 fusion. We review the relevant literature and discuss the diagnostic and differential diagnostic points for this disease.
Types de publication
Case Reports
Langues
eng
Pagination
252-258Informations de copyright
IJCEP Copyright © 2023.
Déclaration de conflit d'intérêts
None.
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