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Diagn Pathol ; 19(1): 65, 2024 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-38678288

RESUMO

BACKGROUND: MEIS1::NCOA2 is a rare fusion gene that has been recently described in a subset of spindle cell rhabdomyosarcomas and multiple low-grade undifferentiated spindle cell sarcomas predominantly arising in the genitourinary and gynecologic tracts with no specific line of differentiation. We present the first documented case of this neoplasm arising as a lung primary tumor. CASE PRESENTATION: A 74-year-old woman with a 40-year smoking history presented with a 2.1 × 1.7 cm lung nodule discovered on computed tomography (CT) scan. A biopsy and subsequent lobe resection were performed, as well as an extensive metastatic work up, which revealed no additional masses. No specific line of differentiation was found by immunohistochemical staining, and an RNA-based fusion panel revealed a MEIS1::NCOA2 fusion, at which point a diagnosis of Low-Grade Undifferentiated Sarcoma with MEIS1::NCOA2-Rearrangement was rendered. CONCLUSIONS: This report represents the first diagnosis of this tumor primary to the lung, and provides additional insight into the origin and localization of these rare tumors.


Assuntos
Neoplasias Pulmonares , Proteína Meis1 , Coativador 2 de Receptor Nuclear , Sarcoma , Humanos , Proteína Meis1/genética , Feminino , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Idoso , Sarcoma/genética , Sarcoma/patologia , Coativador 2 de Receptor Nuclear/genética , Rearranjo Gênico , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/análise
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