title: Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma.
abstract: 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.
authors.affiliation: Pediatric Oncology Unit, Oscar Lambret Center Lille, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Hochart
authors.affiliation: Biochemistry and Molecular Biology Department, Lille University Hospital Lille, France.
authors.forename: Fabienne
authors.initials: F
authors.lastname: Escande
authors.affiliation: Department of Radiology, Oscar Lambret Center Lille, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Rocourt
authors.affiliation: Vectorology and New Anticancer Treatments UMR CNRS 8203 and Department of Pediatric Oncology, Gustave Roussy and University Paris sud Villejuif, France.
authors.forename: Jacques
authors.initials: J
authors.lastname: Grill
authors.affiliation: Department of Molecular Medicine and Translational Research Laboratory, Gustave Roussy Villejuif, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Koubi-Pick
authors.affiliation: Neuropathology Department, Biology and Pathology Center, Lille University Hospital Lille, France.
authors.forename: Juliette
authors.initials: J
authors.lastname: Beaujot
authors.affiliation: Unité Tumorigénèse et Résistance au Traitement, INSERM U908, Oscar Lambret Center Lille, France.
authors.forename: Samuel
authors.initials: S
authors.lastname: Meignan
authors.affiliation: Department of Pediatric Neurosurgery, Lille University Hospital Lille, France.
authors.forename: Matthieu
authors.initials: M
authors.lastname: Vinchon
authors.affiliation: Groupe d'Etude en Neuropathologie Oncologique Pédiatrique (GENOP) and Neuropathology Department, Biology and CHULille F-59000, Lille, France.
authors.forename: Claude Alain
authors.initials: CA
authors.lastname: Maurage
authors.affiliation: Pediatric Oncology Unit, Oscar Lambret Center Lille, France ; Unité Tumorigénèse et Résistance au Traitement, INSERM U908, Oscar Lambret Center Lille, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Leblond