Open AccessLong survival in a child with a mutated K27M‐H3.3 pilocytic astrocytoma
Author(s) -
Hochart Audrey,
Escande Fabienne,
Rocourt Nathalie,
Grill Jacques,
KoubiPick Valérie,
Beaujot Juliette,
Meignan Samuel,
Vinchon Matthieu,
Maurage Claude Alain,
Leblond Pierre
Publication year - 2015
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.184
Subject(s) - medicine , pilocytic astrocytoma , malignant transformation , carcinogenesis , mutation , astrocytoma , pathology , transformation (genetics) , cancer research , oncology , cancer , glioma , genetics , gene , biology
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 TP 53 mutation, would be required for malignant transformation.