CTNNB1 mutation-driven hybrid tumor: desmoid fibromatosis with an unusual associated epithelioid component arising in association with a neuromuscular choristoma.
Virchows Arch
; 484(4): 715-720, 2024 Apr.
Article
en En
| MEDLINE
| ID: mdl-38183458
ABSTRACT
CTNNB1 mutations play important roles in the development of soft tissue tumors, such as desmoid fibromatosis (DF), sinonasal tract angiofibroma, sinonasal glomangiopericytoma, intranodal palisaded myofibroblastoma, neuromuscular choristoma (NMC), and the recently reported pseudoendocrine sarcoma. Here, we report a unique hybrid soft tissue tumor with classic DF, unusual epithelioid component, and NMC in a 23-year-old female. The classic DF and NMC and the unusual epithelioid component and NMC were locally intermixed and closely related to each other. Immunohistochemically, the DF, unusual epithelioid component, and NMC exhibited nuclear positivity for ß-catenin to varying degrees. More critically, all of the above components harbored identical CTNNB1 p.Ser45Pro missense mutations. To the best of our knowledge, this is the only reported CTNNB1 mutation-driven hybrid tumor with DF, unusual epithelioid component, and NMC. The present case further confirmed that CTNNB1-mutational soft tissue tumors are highly heterogeneous, but the morphological spectrum is wide and consecutive.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Coristoma
/
Fibromatosis Agresiva
/
Beta Catenina
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Virchows Arch
Asunto de la revista:
BIOLOGIA MOLECULAR
/
PATOLOGIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
Alemania