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HGG-49. A PEDIATRIC THALAMIC HIGH-GRADE GLIOMA WITH H3F3A K27M AND BRAF V600E DOUBLE MUTATIONS
CASE: A 18-month-old boy presented with approximately 2 months history of progressive left hemiparesis and left exotropia. MRI study showed a 3–4 cm T1-iso, T2-high tumor at right thalamus to midbrain with little contrast enhancement. The patient underwent endoscopic biopsy of the tumor, which showe...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715763/ http://dx.doi.org/10.1093/neuonc/noaa222.329 |
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author | Terashima, Keita Sugawa, Masahiro Sakamoto, Kenichi Kiyotani, Chikako Osumi, Tomoo Shioda, Yoko Deguchi, Takao Kato, Motohiro Tomizawa, Daisuke Usami, Kenichi Ogiwara, Hideki Tsutsumi, Yoshiyuki Fuji, Hiroshi Nakano, Noriyuki Yoshioka, Takako Nakano, Yoshiko Ichimura, Koichi Matsumoto, Kimikazu |
author_facet | Terashima, Keita Sugawa, Masahiro Sakamoto, Kenichi Kiyotani, Chikako Osumi, Tomoo Shioda, Yoko Deguchi, Takao Kato, Motohiro Tomizawa, Daisuke Usami, Kenichi Ogiwara, Hideki Tsutsumi, Yoshiyuki Fuji, Hiroshi Nakano, Noriyuki Yoshioka, Takako Nakano, Yoshiko Ichimura, Koichi Matsumoto, Kimikazu |
author_sort | Terashima, Keita |
collection | PubMed |
description | CASE: A 18-month-old boy presented with approximately 2 months history of progressive left hemiparesis and left exotropia. MRI study showed a 3–4 cm T1-iso, T2-high tumor at right thalamus to midbrain with little contrast enhancement. The patient underwent endoscopic biopsy of the tumor, which showed relatively dense proliferation of small cells with round nuclei, mitosis of the tumor cell, but no necrosis. Immunohistochemical showed positive stain of GFAP and Olig2. Ki-67 was 34%. The histopathological diagnosis was compatible with high grade glioma. Chemotherapy with vincristine, cyclophosphamide, cisplatin and etoposide was initiated. Molecular testing of the tumor revealed H3F3A K27M and BRAF V600E double mutations in DNA from frozen tumor tissue. DISCUSSION: The concurrent mutation of H3F3A K27M and BRAF V600E in pediatric glioma is very rare, but there are several cases previously reported in literature. Interestingly those cases are heterogenous in age, location, histopathological subtypes and clinical outcome. |
format | Online Article Text |
id | pubmed-7715763 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-77157632020-12-09 HGG-49. A PEDIATRIC THALAMIC HIGH-GRADE GLIOMA WITH H3F3A K27M AND BRAF V600E DOUBLE MUTATIONS Terashima, Keita Sugawa, Masahiro Sakamoto, Kenichi Kiyotani, Chikako Osumi, Tomoo Shioda, Yoko Deguchi, Takao Kato, Motohiro Tomizawa, Daisuke Usami, Kenichi Ogiwara, Hideki Tsutsumi, Yoshiyuki Fuji, Hiroshi Nakano, Noriyuki Yoshioka, Takako Nakano, Yoshiko Ichimura, Koichi Matsumoto, Kimikazu Neuro Oncol High Grade Glioma CASE: A 18-month-old boy presented with approximately 2 months history of progressive left hemiparesis and left exotropia. MRI study showed a 3–4 cm T1-iso, T2-high tumor at right thalamus to midbrain with little contrast enhancement. The patient underwent endoscopic biopsy of the tumor, which showed relatively dense proliferation of small cells with round nuclei, mitosis of the tumor cell, but no necrosis. Immunohistochemical showed positive stain of GFAP and Olig2. Ki-67 was 34%. The histopathological diagnosis was compatible with high grade glioma. Chemotherapy with vincristine, cyclophosphamide, cisplatin and etoposide was initiated. Molecular testing of the tumor revealed H3F3A K27M and BRAF V600E double mutations in DNA from frozen tumor tissue. DISCUSSION: The concurrent mutation of H3F3A K27M and BRAF V600E in pediatric glioma is very rare, but there are several cases previously reported in literature. Interestingly those cases are heterogenous in age, location, histopathological subtypes and clinical outcome. Oxford University Press 2020-12-04 /pmc/articles/PMC7715763/ http://dx.doi.org/10.1093/neuonc/noaa222.329 Text en © The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | High Grade Glioma Terashima, Keita Sugawa, Masahiro Sakamoto, Kenichi Kiyotani, Chikako Osumi, Tomoo Shioda, Yoko Deguchi, Takao Kato, Motohiro Tomizawa, Daisuke Usami, Kenichi Ogiwara, Hideki Tsutsumi, Yoshiyuki Fuji, Hiroshi Nakano, Noriyuki Yoshioka, Takako Nakano, Yoshiko Ichimura, Koichi Matsumoto, Kimikazu HGG-49. A PEDIATRIC THALAMIC HIGH-GRADE GLIOMA WITH H3F3A K27M AND BRAF V600E DOUBLE MUTATIONS |
title | HGG-49. A PEDIATRIC THALAMIC HIGH-GRADE GLIOMA WITH H3F3A K27M AND BRAF V600E DOUBLE MUTATIONS |
title_full | HGG-49. A PEDIATRIC THALAMIC HIGH-GRADE GLIOMA WITH H3F3A K27M AND BRAF V600E DOUBLE MUTATIONS |
title_fullStr | HGG-49. A PEDIATRIC THALAMIC HIGH-GRADE GLIOMA WITH H3F3A K27M AND BRAF V600E DOUBLE MUTATIONS |
title_full_unstemmed | HGG-49. A PEDIATRIC THALAMIC HIGH-GRADE GLIOMA WITH H3F3A K27M AND BRAF V600E DOUBLE MUTATIONS |
title_short | HGG-49. A PEDIATRIC THALAMIC HIGH-GRADE GLIOMA WITH H3F3A K27M AND BRAF V600E DOUBLE MUTATIONS |
title_sort | hgg-49. a pediatric thalamic high-grade glioma with h3f3a k27m and braf v600e double mutations |
topic | High Grade Glioma |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715763/ http://dx.doi.org/10.1093/neuonc/noaa222.329 |
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