[Alveolar rhabdomyosarcoma: Two fusion-negative cases lacking PAX3-FOXO1 and PAX7-FOXO1].

Autores de INCLIVA

• 

  Samuel Navarro Fos

  Autor

Participantes ajenos a INCLIVA

• Mestre-Alagarda, Claudia
• Gomez-Mateo, M Carmen
• Berenguer-Romero, M Dolores
• Syonghyun, Nam-Cha
• Nieto, Gema

Grupos y Plataformas de I+D+i

• Grupo de Investigación Translacional de Tumores Sólidos Pediátricos

Abstract

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. Copyright © 2019 Sociedad Espanola de Anatomia Patologica. Publicado por Elsevier Espana, S.L.U. All rights reserved.