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...

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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:
Brief Communications
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
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author Hochart, Audrey
Escande, Fabienne
Rocourt, Nathalie
Grill, Jacques
Koubi-Pick, Valérie
Beaujot, Juliette
Meignan, Samuel
Vinchon, Matthieu
Maurage, Claude Alain
Leblond, Pierre
author_facet Hochart, Audrey
Escande, Fabienne
Rocourt, Nathalie
Grill, Jacques
Koubi-Pick, Valérie
Beaujot, Juliette
Meignan, Samuel
Vinchon, Matthieu
Maurage, Claude Alain
Leblond, Pierre
author_sort Hochart, Audrey
collection PubMed
description 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.
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spelling pubmed-44020892015-04-23 Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma Hochart, Audrey Escande, Fabienne Rocourt, Nathalie Grill, Jacques Koubi-Pick, Valérie Beaujot, Juliette Meignan, Samuel Vinchon, Matthieu Maurage, Claude Alain Leblond, Pierre Ann Clin Transl Neurol Brief Communications 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. BlackWell Publishing Ltd 2015-04 2015-03-03 /pmc/articles/PMC4402089/ /pubmed/25909089 http://dx.doi.org/10.1002/acn3.184 Text en © 2015 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Brief Communications
Hochart, Audrey
Escande, Fabienne
Rocourt, Nathalie
Grill, Jacques
Koubi-Pick, Valérie
Beaujot, Juliette
Meignan, Samuel
Vinchon, Matthieu
Maurage, Claude Alain
Leblond, Pierre
Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma
title Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma
title_full Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma
title_fullStr Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma
title_full_unstemmed Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma
title_short Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma
title_sort long survival in a child with a mutated k27m-h3.3 pilocytic astrocytoma
topic Brief Communications
url 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
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