An intraosseous myoepithelial carcinoma with a EWSR1::PBX3 fusion.
Genes Chromosomes Cancer
; 62(10): 607-610, 2023 10.
Article
en En
| MEDLINE
| ID: mdl-37129228
ABSTRACT
Herein we report a case of an intraosseous myoepithelial carcinoma harboring a EWSR1PBX3 fusion gene. The patient was a 64-year-old male found to have a 7 cm destructive lesion in the distal ulna with an extraosseous soft tissue component. Microscopic examination of the resected tumor showed a spindle-cell lesion within a sclerotic stroma and intravascular tumor emboli. At higher power the tumor cells showed moderate nuclear atypia with a high mitotic count (20 per mm2 ). Immunohistochemistry revealed diffuse EMA positivity and focal pancytokeratin (AE1/AE3) and S100 expression, consistent with myoepithelial differentiation. NGS using the Oncomine Childhood Cancer Assay (Thermo Fisher Scientific, Inc.) revealed a EWSR1-PBX3 fusion and ABL amplification. The patient subsequently developed local recurrence as well as distant lymph node, lung and vertebral metastases; he is currently awaiting systemic treatment in the context of a clinical trial. In this report, we present a rare case of a skeletal myoepithelial tumor harboring a EWSR1PBX3 fusion with demonstrated histological and clinical features of malignancy.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Óseas
/
Carcinoma
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Neoplasias de los Tejidos Conjuntivo y Blando
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Mioepitelioma
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
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Male
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Middle aged
Idioma:
En
Revista:
Genes Chromosomes Cancer
Asunto de la revista:
BIOLOGIA MOLECULAR
/
NEOPLASIAS
Año:
2023
Tipo del documento:
Article
País de afiliación:
Suecia