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Rev Esp Patol ; 55(1): 57-62, 2022.
Artigo em Espanhol | MEDLINE | ID: mdl-34980443

RESUMO

Rhabdomyosarcoma is the most common soft tissue sarcoma in childhood and adolescence. Morphologically, two major forms are described: alveolar and embryonal rhabdomyosarcoma. The former is generally associated with a poorer prognosis and it usually harbors a characteristic fusion gene, PAX3/7-FOXO1, that is used to confirm the diagnosis. We present two cases, both of which exhibited the classic alveolar histology with immunohistochemical myogenic differentiation (Desmin, MYOD-1 and Myogenin expression) and lacked the characteristic fusion gene PAX3/7-FOXO1. The aim of this report is to highlight the importance of the molecular status in the study and diagnosis of these cases, as it seems to be not only a useful diagnostic tool, but also an important prognostic factor.


Assuntos
Rabdomiossarcoma Alveolar , Neoplasias de Tecidos Moles , Proteína Forkhead Box O1/genética , Proteína Forkhead Box O1/metabolismo , Fusão Gênica , Humanos , Fator de Transcrição PAX3/genética , Fator de Transcrição PAX3/metabolismo , Fator de Transcrição PAX7/genética , Rabdomiossarcoma Alveolar/genética , Rabdomiossarcoma Alveolar/patologia
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