| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2022-01-04 |
| タイトル |
|
|
タイトル |
Clinical Significance of Molecular Diagnosis of Pilocytic Astrocytoma: A Case Report |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
pilocytic astrocytoma |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
copy number profile |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
methylation profile |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
tumor classifier tool |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 作成者 |
Ono, Takahiro
Takahashi, Masataka
Hatakeyama, Junya
ODA, Masaya
Sahm, Felix
Nanjo, Hiroshi
von Deimling, Andreas
SHIMIZU, Hiroaki
|
| 内容記述 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
This paper reports on a case of pilocytic astrocytoma (PA), for which a diagnosis by conventional pathological diagnosis was difficult but an accurate diagnosis was possible by a new molecular diagnostic method. A 13-year-old girl whose tumor developed by a headache that gradually worsened, and a well-demarcated T2-hyperintense lesion was found in the left cerebellum by a magnetic resonance imaging while the apparent diffusion coefficient value was also high. While the finding was a typical PA, histological features of PA were not found in the surgical specimen. An initial diagnosis was anaplastic astrocytoma (AA), and the final diagnosis through a central review was diffuse astrocytoma (DA). On the other hand, using MethylationEPIC (850 K) array, an analysis by a DNA methylation-based tumor classifier tool as reported by Capper et al. showed that this case belonged to a methylation class of PA. The copy number profile calculated from the methylation array data showed hints of BRAF/KIAA1549 fusion and no other chromosomal alterations, which also supported the molecular diagnosis. The patient was treated with local radiotherapy concomitant with temozolomide based on the initial pathological diagnosis during the consultation, but maintenance temozolomide therapy was not done according to the final molecular diagnosis. The tumor showed no recurrence for 20 months. In this case, the integrated diagnostic approach based on histological and molecular findings was clinically significant to select proper adjuvant treatment. It is crucial that the usefulness and robustness of this new molecular diagnostic method be validated further. |
|
言語 |
en |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 書誌情報 |
NMC Case Report Journal
巻 6,
号 3,
p. 95-99,
発行日 2019
|
| 収録物識別子 |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
2188-4226 |
| 出版者 |
|
|
出版者 |
The Japan Neurosurgical Society |
| 関連情報 |
|
|
関連タイプ |
isIdenticalTo |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.2176/nmccrj.cr.2018-0282 |
| 権利情報 |
|
|
権利情報 |
© 2019 by The Japan Neurosurgical Society This work is licensed under a Creative Commons AttributionNonCommercial-NoDerivatives International License. |
iA_2021_39 (2.5 MB)
