Hypermutated phenotype in gliosarcoma of the spinal cord

Abstract Gliosarcoma is a variant of glioblastoma with equally poor prognosis and characterized by mixed glial and mesenchymal pathology. Metastasis is not uncommon but the involvement of the spinal cord is rare, and comprehensive genetic characterization of spinal gliosarcoma is lacking. We describ...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Christopher S. Hong, Gregory A. Kuzmik, Adam J. Kundishora, Aladine A. Elsamadicy, Andrew B. Koo, Declan McGuone, Nicholas A. Blondin, Michael L. DiLuna, E. Zeynep Erson-Omay
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/a6a8850fbc314bbebd402b0441814fc4
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:a6a8850fbc314bbebd402b0441814fc4
record_format	dspace
spelling	oai:doaj.org-article:a6a8850fbc314bbebd402b0441814fc42021-12-02T14:23:50ZHypermutated phenotype in gliosarcoma of the spinal cord10.1038/s41698-021-00143-w2397-768Xhttps://doaj.org/article/a6a8850fbc314bbebd402b0441814fc42021-02-01T00:00:00Zhttps://doi.org/10.1038/s41698-021-00143-whttps://doaj.org/toc/2397-768XAbstract Gliosarcoma is a variant of glioblastoma with equally poor prognosis and characterized by mixed glial and mesenchymal pathology. Metastasis is not uncommon but the involvement of the spinal cord is rare, and comprehensive genetic characterization of spinal gliosarcoma is lacking. We describe a patient initially diagnosed with a low-grade brain glioma via biopsy, followed by adjuvant radiation and temozolomide treatment. Nearly 2 years after diagnosis, she developed neurological deficits from an intradural, extramedullary tumor anterior to the spinal cord at T4, which was resected and diagnosed as gliosarcoma. Whole-exome sequencing (WES) of this tumor revealed a hypermutated phenotype, characterized by somatic mutations in key DNA mismatch repair (MMR) pathway genes, an abundance of C>T transitions within the identified somatic single nucleotide variations, and microsatellite stability, together consistent with temozolomide-mediated hypermutagenesis. This is the first report of a hypermutator phenotype in gliosarcoma, which may represent a novel genomic mechanism of progression from lower grade glioma.Christopher S. HongGregory A. KuzmikAdam J. KundishoraAladine A. ElsamadicyAndrew B. KooDeclan McGuoneNicholas A. BlondinMichael L. DiLunaE. Zeynep Erson-OmayNature PortfolioarticleNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENnpj Precision Oncology, Vol 5, Iss 1, Pp 1-6 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Christopher S. Hong Gregory A. Kuzmik Adam J. Kundishora Aladine A. Elsamadicy Andrew B. Koo Declan McGuone Nicholas A. Blondin Michael L. DiLuna E. Zeynep Erson-Omay Hypermutated phenotype in gliosarcoma of the spinal cord
description	Abstract Gliosarcoma is a variant of glioblastoma with equally poor prognosis and characterized by mixed glial and mesenchymal pathology. Metastasis is not uncommon but the involvement of the spinal cord is rare, and comprehensive genetic characterization of spinal gliosarcoma is lacking. We describe a patient initially diagnosed with a low-grade brain glioma via biopsy, followed by adjuvant radiation and temozolomide treatment. Nearly 2 years after diagnosis, she developed neurological deficits from an intradural, extramedullary tumor anterior to the spinal cord at T4, which was resected and diagnosed as gliosarcoma. Whole-exome sequencing (WES) of this tumor revealed a hypermutated phenotype, characterized by somatic mutations in key DNA mismatch repair (MMR) pathway genes, an abundance of C>T transitions within the identified somatic single nucleotide variations, and microsatellite stability, together consistent with temozolomide-mediated hypermutagenesis. This is the first report of a hypermutator phenotype in gliosarcoma, which may represent a novel genomic mechanism of progression from lower grade glioma.
format	article
author	Christopher S. Hong Gregory A. Kuzmik Adam J. Kundishora Aladine A. Elsamadicy Andrew B. Koo Declan McGuone Nicholas A. Blondin Michael L. DiLuna E. Zeynep Erson-Omay
author_facet	Christopher S. Hong Gregory A. Kuzmik Adam J. Kundishora Aladine A. Elsamadicy Andrew B. Koo Declan McGuone Nicholas A. Blondin Michael L. DiLuna E. Zeynep Erson-Omay
author_sort	Christopher S. Hong
title	Hypermutated phenotype in gliosarcoma of the spinal cord
title_short	Hypermutated phenotype in gliosarcoma of the spinal cord
title_full	Hypermutated phenotype in gliosarcoma of the spinal cord
title_fullStr	Hypermutated phenotype in gliosarcoma of the spinal cord
title_full_unstemmed	Hypermutated phenotype in gliosarcoma of the spinal cord
title_sort	hypermutated phenotype in gliosarcoma of the spinal cord
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/a6a8850fbc314bbebd402b0441814fc4
work_keys_str_mv	AT christophershong hypermutatedphenotypeingliosarcomaofthespinalcord AT gregoryakuzmik hypermutatedphenotypeingliosarcomaofthespinalcord AT adamjkundishora hypermutatedphenotypeingliosarcomaofthespinalcord AT aladineaelsamadicy hypermutatedphenotypeingliosarcomaofthespinalcord AT andrewbkoo hypermutatedphenotypeingliosarcomaofthespinalcord AT declanmcguone hypermutatedphenotypeingliosarcomaofthespinalcord AT nicholasablondin hypermutatedphenotypeingliosarcomaofthespinalcord AT michaelldiluna hypermutatedphenotypeingliosarcomaofthespinalcord AT ezeynepersonomay hypermutatedphenotypeingliosarcomaofthespinalcord
_version_	1718391443411697664

Hypermutated phenotype in gliosarcoma of the spinal cord

Ejemplares similares