Cargando…

Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma

We report the first case of a child with a H3F3A K27M mutated pilocytic astrocytoma, who presented with a 10 years survival, and underwent spontaneous malignant transformation. The complex tumoral chromosomal rearrangements were consistent for genomic instability and for the histopathological featur...

Descripción completa

Detalles Bibliográficos
Autores principales: Hochart, Audrey, Escande, Fabienne, Rocourt, Nathalie, Grill, Jacques, Koubi-Pick, Valérie, Beaujot, Juliette, Meignan, Samuel, Vinchon, Matthieu, Maurage, Claude Alain, Leblond, Pierre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402089/
https://www.ncbi.nlm.nih.gov/pubmed/25909089
http://dx.doi.org/10.1002/acn3.184
Descripción
Sumario:We report the first case of a child with a H3F3A K27M mutated pilocytic astrocytoma, who presented with a 10 years survival, and underwent spontaneous malignant transformation. The complex tumoral chromosomal rearrangements were consistent for genomic instability and for the histopathological features of malignant transformation into glioblastoma. H3F3A K27M mutations are rarely observed in benign neoplasms and may be associated with an adverse outcome. This mutation might not be the major driver that led to the onset of tumorigenesis, and we could consider that the associated TP53 mutation, would be required for malignant transformation.