Cargando…

Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma

Primary intracranial collision tumors are rare in patients without predisposing factors. We report such a case in a 42-year-old female who presented with headaches and altered mental status. Imaging revealed a single heterogeneous, rim-enhancing lesion in the left parieto-occipital periventricular r...

Descripción completa

Detalles Bibliográficos
Autores principales: Chamberlin, Kelly, Chamberlin, Gregory, Saunders, Katherine, Khagi, Simon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Future Medicine Ltd 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162195/
https://www.ncbi.nlm.nih.gov/pubmed/34015961
http://dx.doi.org/10.2217/cns-2020-0029
_version_ 1783700660216135680
author Chamberlin, Kelly
Chamberlin, Gregory
Saunders, Katherine
Khagi, Simon
author_facet Chamberlin, Kelly
Chamberlin, Gregory
Saunders, Katherine
Khagi, Simon
author_sort Chamberlin, Kelly
collection PubMed
description Primary intracranial collision tumors are rare in patients without predisposing factors. We report such a case in a 42-year-old female who presented with headaches and altered mental status. Imaging revealed a single heterogeneous, rim-enhancing lesion in the left parieto-occipital periventricular region, involving the corpus callosum. Stereotactic biopsy demonstrated glioblastoma. Subsequent tumor resection showed histologic evidence of glioblastoma and meningioma. Next-generation sequencing was performed on both tumor components. The glioblastoma exhibited a CDKN2A homozygous deletion and novel missense mutations in TAF1L and CSMD3, while no definitive genetic alterations were identified in the meningioma. Next-generation sequencing may yield insight into molecular drivers of intracranial collision tumors and aid in identifying future therapeutic targets.
format Online
Article
Text
id pubmed-8162195
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Future Medicine Ltd
record_format MEDLINE/PubMed
spelling pubmed-81621952021-06-02 Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma Chamberlin, Kelly Chamberlin, Gregory Saunders, Katherine Khagi, Simon CNS Oncol Case Report Primary intracranial collision tumors are rare in patients without predisposing factors. We report such a case in a 42-year-old female who presented with headaches and altered mental status. Imaging revealed a single heterogeneous, rim-enhancing lesion in the left parieto-occipital periventricular region, involving the corpus callosum. Stereotactic biopsy demonstrated glioblastoma. Subsequent tumor resection showed histologic evidence of glioblastoma and meningioma. Next-generation sequencing was performed on both tumor components. The glioblastoma exhibited a CDKN2A homozygous deletion and novel missense mutations in TAF1L and CSMD3, while no definitive genetic alterations were identified in the meningioma. Next-generation sequencing may yield insight into molecular drivers of intracranial collision tumors and aid in identifying future therapeutic targets. Future Medicine Ltd 2021-05-21 /pmc/articles/PMC8162195/ /pubmed/34015961 http://dx.doi.org/10.2217/cns-2020-0029 Text en © 2021 Simon Khagi https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under the Attribution-NonCommercial-NoDerivatives 4.0 Unported License (https://creativecommons.org/licenses/by-nc-nd/4.0/)
spellingShingle Case Report
Chamberlin, Kelly
Chamberlin, Gregory
Saunders, Katherine
Khagi, Simon
Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma
title Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma
title_full Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma
title_fullStr Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma
title_full_unstemmed Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma
title_short Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma
title_sort next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162195/
https://www.ncbi.nlm.nih.gov/pubmed/34015961
http://dx.doi.org/10.2217/cns-2020-0029
work_keys_str_mv AT chamberlinkelly nextgenerationsequencingrevealsnovelmutationsinacollisiontumorofglioblastomaandmeningioma
AT chamberlingregory nextgenerationsequencingrevealsnovelmutationsinacollisiontumorofglioblastomaandmeningioma
AT saunderskatherine nextgenerationsequencingrevealsnovelmutationsinacollisiontumorofglioblastomaandmeningioma
AT khagisimon nextgenerationsequencingrevealsnovelmutationsinacollisiontumorofglioblastomaandmeningioma