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A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery
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 o...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nagoya University
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009614/ https://www.ncbi.nlm.nih.gov/pubmed/36923612 http://dx.doi.org/10.18999/nagjms.85.1.150 |
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author | Matsuhisa, Takaharu Teranishi, Masaaki Tsuyuki, Yuta Sone, Michihiko Sato, Juichi |
author_facet | Matsuhisa, Takaharu Teranishi, Masaaki Tsuyuki, Yuta Sone, Michihiko Sato, Juichi |
author_sort | Matsuhisa, Takaharu |
collection | PubMed |
description | 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. (18)Fluorodeoxyglucose–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 (18)fluorodeoxyglucose–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. |
format | Online Article Text |
id | pubmed-10009614 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Nagoya University |
record_format | MEDLINE/PubMed |
spelling | pubmed-100096142023-03-14 A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery Matsuhisa, Takaharu Teranishi, Masaaki Tsuyuki, Yuta Sone, Michihiko Sato, Juichi Nagoya J Med Sci Case Report 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. (18)Fluorodeoxyglucose–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 (18)fluorodeoxyglucose–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. Nagoya University 2023-02 /pmc/articles/PMC10009614/ /pubmed/36923612 http://dx.doi.org/10.18999/nagjms.85.1.150 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ). |
spellingShingle | Case Report Matsuhisa, Takaharu Teranishi, Masaaki Tsuyuki, Yuta Sone, Michihiko Sato, Juichi A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery |
title | A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery |
title_full | A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery |
title_fullStr | A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery |
title_full_unstemmed | A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery |
title_short | A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery |
title_sort | case of erdheim–chester disease with the braf v600e mutation diagnosed via endoscopic sinus surgery |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009614/ https://www.ncbi.nlm.nih.gov/pubmed/36923612 http://dx.doi.org/10.18999/nagjms.85.1.150 |
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