| Item type |
itemtype_ver1(1) |
| 公開日 |
2023-03-01 |
| タイトル |
|
|
タイトル |
A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery |
|
言語 |
en |
| 著者 |
Matsuhisa, Takaharu
Teranishi, Masaaki
Tsuyuki, Yuta
Sone, Michihiko
Sato, Juichi
|
| 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 |
| 権利 |
|
|
言語 |
en |
|
権利情報Resource |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
|
権利情報 |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
Erdheim–Chester disease |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
BRAF V600E mutation |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
endoscopic sinus surgery |
| 内容記述 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Erdheim–Chester disease is characterized by the infiltration of foamy histiocytes in tissues. Lesional tissue biopsy is recommended to confirm diagnosis and establish the BRAF mutational status. A 52-year-old man presented to our hospital with hydronephrosis. Computed tomography showed enhancement of soft shadows around the left renal pelvis transition area and the aorta. He was treated with prednisolone 0.2 mg/kg for 1 year; however, no improvement was observed. 18Fluorodeoxyglucose–positron emission tomography/computed tomography revealed increased fluorodeoxyglucose uptake in various body parts, including the maxillary sinuses, indicative of Erdheim–Chester disease. He refused further examination, and the maxillary sinus lesions were treated with antibiotics and intranasal steroids, but no improvement was observed. Two years later, he underwent biopsy with endoscopic sinus surgery of the maxillary sinus, which showed the highest increase in fluorodeoxyglucose uptake on repeat 18fluorodeoxyglucose–positron emission tomography/computed tomography. Endoscopic findings showed only nonspecific inflammatory findings, but pathological findings revealed the proliferation of cells with abundant foamy cytoplasms. Sufficient tumor volume was available to perform PCR for BRAF V600E mutation analysis, which was positive and resulted in a diagnosis of Erdheim–Chester disease with the BRAF V600E mutation. This is the first case of a patient with Erdheim–Chester disease with the BRAF V600E mutation identified in a sinus lesion. Endoscopic sinus surgery biopsy of the paranasal sinuses was considered to contribute to the histological and genetic diagnosis of Erdheim–Chester disease, particularly following the notable increase in fluorodeoxyglucose uptake. |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
Nagoya University Graduate School of Medicine, School of Medicine |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 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 |
departmental bulletin paper |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| ID登録 |
|
|
ID登録 |
10.18999/nagjms.85.1.150 |
|
ID登録タイプ |
JaLC |
| 関連情報 |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
URI |
|
|
関連識別子 |
https://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/851.html |
| 収録物識別子 |
|
|
収録物識別子タイプ |
PISSN |
|
収録物識別子 |
0027-7622 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
EISSN |
|
収録物識別子 |
2186-3326 |
| 書誌情報 |
en : Nagoya Journal of Medical Science
巻 85,
号 1,
p. 150-156,
発行日 2023-02
|
13_Matsuhisa.pdf (7.7 MB)
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