Cargando…
Case Report: Identification of Multiple TERT and FGFR2 Gene Fusions in a Pineal Region Glioblastoma Case
As an oncogenic somatic variant, telomerase reverse transcriptase promoter (TERTp) mutations are frequently observed in adult glioblastoma (GBM). Alternatively, we report the first case of glioblastoma with TERT amplification accompanied by multiple TERT and FGFR2 gene fusions instead of TERTp mutat...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8716851/ https://www.ncbi.nlm.nih.gov/pubmed/34976798 http://dx.doi.org/10.3389/fonc.2021.739309 |
_version_ | 1784624406456172544 |
---|---|
author | Guo, Xing Chen, Teng Chen, Shiming Song, Chao Shan, Dezhi Xu, Shujun Xu, Shuo |
author_facet | Guo, Xing Chen, Teng Chen, Shiming Song, Chao Shan, Dezhi Xu, Shujun Xu, Shuo |
author_sort | Guo, Xing |
collection | PubMed |
description | As an oncogenic somatic variant, telomerase reverse transcriptase promoter (TERTp) mutations are frequently observed in adult glioblastoma (GBM). Alternatively, we report the first case of glioblastoma with TERT amplification accompanied by multiple TERT and FGFR2 gene fusions instead of TERTp mutation. A 55-year-old woman presented with dizziness, headache, and diplopia for three weeks. Magnetic resonance imaging (MRI) demonstrated a heterogeneously enhancing lobulated mass centered in the pineal region. Partial tumor resection and ventriculoperitoneal shunt were achieved, and the residual tumor was then treated with standard radiation. The tumor was diagnosed as GBM, IDH-wild type, WHO grade IV, and the Ki67 proliferation index was high (30–40%). Intriguingly, TERT amplification without TERTp mutation was identified via next generation sequencing (NGS). Further analysis revealed multiple TERT (TERT–NUBPL, MARCH6–TERT, and CJD4–TERT) and FGFR2 (CXCL17–FGFR2, SIPA1L3–FGFR2, FGFR2–SIPA1L3, and FGFR2–CEACAM1) gene fusions. After the surgery, the patient’s condition deteriorated rapidly due to the malignant nature of the tumor and she died with an overall survival of 3 months. Our report provides the molecular clue for a novel telomerase activation and maintenance mechanism in GBM. |
format | Online Article Text |
id | pubmed-8716851 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-87168512021-12-31 Case Report: Identification of Multiple TERT and FGFR2 Gene Fusions in a Pineal Region Glioblastoma Case Guo, Xing Chen, Teng Chen, Shiming Song, Chao Shan, Dezhi Xu, Shujun Xu, Shuo Front Oncol Oncology As an oncogenic somatic variant, telomerase reverse transcriptase promoter (TERTp) mutations are frequently observed in adult glioblastoma (GBM). Alternatively, we report the first case of glioblastoma with TERT amplification accompanied by multiple TERT and FGFR2 gene fusions instead of TERTp mutation. A 55-year-old woman presented with dizziness, headache, and diplopia for three weeks. Magnetic resonance imaging (MRI) demonstrated a heterogeneously enhancing lobulated mass centered in the pineal region. Partial tumor resection and ventriculoperitoneal shunt were achieved, and the residual tumor was then treated with standard radiation. The tumor was diagnosed as GBM, IDH-wild type, WHO grade IV, and the Ki67 proliferation index was high (30–40%). Intriguingly, TERT amplification without TERTp mutation was identified via next generation sequencing (NGS). Further analysis revealed multiple TERT (TERT–NUBPL, MARCH6–TERT, and CJD4–TERT) and FGFR2 (CXCL17–FGFR2, SIPA1L3–FGFR2, FGFR2–SIPA1L3, and FGFR2–CEACAM1) gene fusions. After the surgery, the patient’s condition deteriorated rapidly due to the malignant nature of the tumor and she died with an overall survival of 3 months. Our report provides the molecular clue for a novel telomerase activation and maintenance mechanism in GBM. Frontiers Media S.A. 2021-12-16 /pmc/articles/PMC8716851/ /pubmed/34976798 http://dx.doi.org/10.3389/fonc.2021.739309 Text en Copyright © 2021 Guo, Chen, Chen, Song, Shan, Xu and Xu https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Oncology Guo, Xing Chen, Teng Chen, Shiming Song, Chao Shan, Dezhi Xu, Shujun Xu, Shuo Case Report: Identification of Multiple TERT and FGFR2 Gene Fusions in a Pineal Region Glioblastoma Case |
title | Case Report: Identification of Multiple TERT and FGFR2 Gene Fusions in a Pineal Region Glioblastoma Case |
title_full | Case Report: Identification of Multiple TERT and FGFR2 Gene Fusions in a Pineal Region Glioblastoma Case |
title_fullStr | Case Report: Identification of Multiple TERT and FGFR2 Gene Fusions in a Pineal Region Glioblastoma Case |
title_full_unstemmed | Case Report: Identification of Multiple TERT and FGFR2 Gene Fusions in a Pineal Region Glioblastoma Case |
title_short | Case Report: Identification of Multiple TERT and FGFR2 Gene Fusions in a Pineal Region Glioblastoma Case |
title_sort | case report: identification of multiple tert and fgfr2 gene fusions in a pineal region glioblastoma case |
topic | Oncology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8716851/ https://www.ncbi.nlm.nih.gov/pubmed/34976798 http://dx.doi.org/10.3389/fonc.2021.739309 |
work_keys_str_mv | AT guoxing casereportidentificationofmultipletertandfgfr2genefusionsinapinealregionglioblastomacase AT chenteng casereportidentificationofmultipletertandfgfr2genefusionsinapinealregionglioblastomacase AT chenshiming casereportidentificationofmultipletertandfgfr2genefusionsinapinealregionglioblastomacase AT songchao casereportidentificationofmultipletertandfgfr2genefusionsinapinealregionglioblastomacase AT shandezhi casereportidentificationofmultipletertandfgfr2genefusionsinapinealregionglioblastomacase AT xushujun casereportidentificationofmultipletertandfgfr2genefusionsinapinealregionglioblastomacase AT xushuo casereportidentificationofmultipletertandfgfr2genefusionsinapinealregionglioblastomacase |