Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Matsuhisa, Takaharu, Teranishi, Masaaki, Tsuyuki, Yuta, Sone, Michihiko, Sato, Juichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nagoya University 2023
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
_version_ 1784906021566676992
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
work_keys_str_mv AT matsuhisatakaharu acaseoferdheimchesterdiseasewiththebrafv600emutationdiagnosedviaendoscopicsinussurgery
AT teranishimasaaki acaseoferdheimchesterdiseasewiththebrafv600emutationdiagnosedviaendoscopicsinussurgery
AT tsuyukiyuta acaseoferdheimchesterdiseasewiththebrafv600emutationdiagnosedviaendoscopicsinussurgery
AT sonemichihiko acaseoferdheimchesterdiseasewiththebrafv600emutationdiagnosedviaendoscopicsinussurgery
AT satojuichi acaseoferdheimchesterdiseasewiththebrafv600emutationdiagnosedviaendoscopicsinussurgery
AT matsuhisatakaharu caseoferdheimchesterdiseasewiththebrafv600emutationdiagnosedviaendoscopicsinussurgery
AT teranishimasaaki caseoferdheimchesterdiseasewiththebrafv600emutationdiagnosedviaendoscopicsinussurgery
AT tsuyukiyuta caseoferdheimchesterdiseasewiththebrafv600emutationdiagnosedviaendoscopicsinussurgery
AT sonemichihiko caseoferdheimchesterdiseasewiththebrafv600emutationdiagnosedviaendoscopicsinussurgery
AT satojuichi caseoferdheimchesterdiseasewiththebrafv600emutationdiagnosedviaendoscopicsinussurgery