H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components
Abstract The recently described malignant neuro-epithelial tumors with histone H3F3A point mutations at G34 (NET-H3-G34) occur most often in cerebral hemispheres of teenagers and young adults, and have a generally adverse prognosis. These tumors have been histologically classified as glioblastoma or...
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doaj-5deb48ad1d2c45c395125b81b675f9e12020-11-25T02:57:36ZengBMCActa Neuropathologica Communications2051-59602019-05-01711410.1186/s40478-019-0731-5H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell componentsFelipe Andreiuolo0Tomo Lisner1Jozef Zlocha2Christof Kramm3Arend Koch4Brigitte Bison5Albane Gareton6Marc Zanello7Andreas Waha8Pascale Varlet9Torsten Pietsch10Department of Neuropathology, DGNN Brain Tumor Reference Center, University of Bonn Medical CenterDepartment of Neuropathology, Sainte-Anne HospitalDepartment of Pediatrics, Clinic ChemnitzDivision of Pediatric Hematology and Oncology, University Medical Center GöttingenDepartment of Neuropathology, Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Freie Universität BerlinInstitute for Diagnostic and Interventional Neuroradiology, University Hospital WürzburgDepartment of Neuropathology, Sainte-Anne HospitalDepartment of Neurosurgery, Sainte-Anne HospitalDepartment of Neuropathology, DGNN Brain Tumor Reference Center, University of Bonn Medical CenterDepartment of Neuropathology, Sainte-Anne HospitalDepartment of Neuropathology, DGNN Brain Tumor Reference Center, University of Bonn Medical CenterAbstract The recently described malignant neuro-epithelial tumors with histone H3F3A point mutations at G34 (NET-H3-G34) occur most often in cerebral hemispheres of teenagers and young adults, and have a generally adverse prognosis. These tumors have been histologically classified as glioblastoma or primitive neuroectodermal tumor (PNET) in the past, and have not been defined as a separate entity in the revised WHO classification of tumors of the CNS 2016. Here, we report two cases of NET-H3-G34 with glial and dysplastic ganglion cell components affecting teenagers. Patients were treated with surgery and radiochemotherapy with temozolomide. One patient underwent partial resection and deceased 21 months after diagnosis, while the other patient is alive without evidence of disease 15 months after total resection. So far, a dysplastic ganglion cell component has not been described in NET-H-G34, and its presence raises a possible relation to (anaplastic) gangliogliomas. Genome-wide copy number analysis did not provide unequivocal evidence that these tumors represent anaplastic variants of gangliogliomas, as opposed to NET-H3-G34. Our observations expand the morphologic spectrum of NET-H3-G34. Further cases of NET-H3-G34 with dysplastic ganglion cells should be clinically followed to find differences or similarities in their biological behavior, as compared to NET-H3-G34 and anaplastic gangliogliomas.http://link.springer.com/article/10.1186/s40478-019-0731-5Anaplastic gangliogliomaHistone H3MutationG34RNeuroepithelial tumorGlioblastoma |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Felipe Andreiuolo Tomo Lisner Jozef Zlocha Christof Kramm Arend Koch Brigitte Bison Albane Gareton Marc Zanello Andreas Waha Pascale Varlet Torsten Pietsch |
spellingShingle |
Felipe Andreiuolo Tomo Lisner Jozef Zlocha Christof Kramm Arend Koch Brigitte Bison Albane Gareton Marc Zanello Andreas Waha Pascale Varlet Torsten Pietsch H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components Acta Neuropathologica Communications Anaplastic ganglioglioma Histone H3 Mutation G34R Neuroepithelial tumor Glioblastoma |
author_facet |
Felipe Andreiuolo Tomo Lisner Jozef Zlocha Christof Kramm Arend Koch Brigitte Bison Albane Gareton Marc Zanello Andreas Waha Pascale Varlet Torsten Pietsch |
author_sort |
Felipe Andreiuolo |
title |
H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components |
title_short |
H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components |
title_full |
H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components |
title_fullStr |
H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components |
title_full_unstemmed |
H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components |
title_sort |
h3f3a-g34r mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components |
publisher |
BMC |
series |
Acta Neuropathologica Communications |
issn |
2051-5960 |
publishDate |
2019-05-01 |
description |
Abstract The recently described malignant neuro-epithelial tumors with histone H3F3A point mutations at G34 (NET-H3-G34) occur most often in cerebral hemispheres of teenagers and young adults, and have a generally adverse prognosis. These tumors have been histologically classified as glioblastoma or primitive neuroectodermal tumor (PNET) in the past, and have not been defined as a separate entity in the revised WHO classification of tumors of the CNS 2016. Here, we report two cases of NET-H3-G34 with glial and dysplastic ganglion cell components affecting teenagers. Patients were treated with surgery and radiochemotherapy with temozolomide. One patient underwent partial resection and deceased 21 months after diagnosis, while the other patient is alive without evidence of disease 15 months after total resection. So far, a dysplastic ganglion cell component has not been described in NET-H-G34, and its presence raises a possible relation to (anaplastic) gangliogliomas. Genome-wide copy number analysis did not provide unequivocal evidence that these tumors represent anaplastic variants of gangliogliomas, as opposed to NET-H3-G34. Our observations expand the morphologic spectrum of NET-H3-G34. Further cases of NET-H3-G34 with dysplastic ganglion cells should be clinically followed to find differences or similarities in their biological behavior, as compared to NET-H3-G34 and anaplastic gangliogliomas. |
topic |
Anaplastic ganglioglioma Histone H3 Mutation G34R Neuroepithelial tumor Glioblastoma |
url |
http://link.springer.com/article/10.1186/s40478-019-0731-5 |
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