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通过对福尔马林固定石蜡包埋组织进行宏基因组下一代测序诊断宫颈放线菌病:一例报告及文献综述

Cervical Actinomycosis Diagnosed via Metagenomic Next-Generation Sequencing of Formalin-Fixed Paraffin-Embedded Tissue: A Case Report and Literature Review.

作者信息

Wang Teresa K F, Tsang Hin-Fung, Wong Sze Chuen Cesar, Leung Stanley W M

机构信息

Hong Kong Medical Consultants Limited, Hong Kong SAR, China.

Department of Clinical Laboratory and Pathology, Hong Kong Adventist Hospital, Hong Kong SAR, China.

出版信息

Microorganisms. 2025 Aug 8;13(8):1855. doi: 10.3390/microorganisms13081855.

DOI:10.3390/microorganisms13081855
PMID:40871358
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12388422/
Abstract

Actinomycosis is an uncommon but significant chronic bacterial infection affecting various parts of the body caused by species. Because of the nonspecific symptoms and rarity of the condition, the diagnosis of head-and-neck or cervicofacial actinomycosis is usually challenging and delayed. A 39-year-old woman presented with an enlarging right neck mass and dysphagia after steroid exposure for treatment of De Quervain thyroiditis. MRI showed a large irregular infiltration mass over the right side of her neck, with a multi-loculated rim-enhancing area over the right retropharyngeal space. Excisional biopsy of the lesion only showed evidence of acute on chronic inflammation, and the results of all microbiological testing (including bacterial culture, Gram-staining, and molecular detection) were negative. Metagenomic next-generation sequencing (mNGS) of the formalin-fixed paraffin-embedded (FFPE) tissue from the patient was performed. DNA of and was detected. The patient was confirmed to have cervical actinomycosis and completely recovered after 6 months of oral amoxicillin. Our patient is the first case utilizing mNGS on FFPE tissue to diagnose cervical actinomycosis. This case shows that mNGS is a promising, unbiased tool for detecting species in FFPE tissues and diagnosing cervical actinomycosis. It also highlights the diagnostic difficulties of cervical actinomycosis.

摘要

放线菌病是一种由放线菌属引起的罕见但严重的慢性细菌感染,可累及身体各个部位。由于该病症状不具特异性且较为罕见,头颈部或颈面部放线菌病的诊断通常具有挑战性且会延迟。一名39岁女性在因治疗亚急性甲状腺炎接受类固醇治疗后,出现右侧颈部肿块增大及吞咽困难。磁共振成像(MRI)显示其右侧颈部有一个巨大的不规则浸润性肿块,右侧咽后间隙有一个多房性边缘强化区域。对该病变进行切除活检仅显示有慢性炎症急性发作的证据,所有微生物检测(包括细菌培养、革兰氏染色和分子检测)结果均为阴性。对该患者福尔马林固定石蜡包埋(FFPE)组织进行了宏基因组下一代测序(mNGS)。检测到放线菌属和双歧杆菌属的DNA。该患者被确诊为颈部放线菌病,口服阿莫西林6个月后完全康复。我们的患者是首例利用FFPE组织的mNGS诊断颈部放线菌病的病例。该病例表明,mNGS是一种用于检测FFPE组织中放线菌属物种和诊断颈部放线菌病的有前景、无偏差的工具。它还突出了颈部放线菌病的诊断困难。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6857/12388422/4991b98e2ed4/microorganisms-13-01855-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6857/12388422/1fab6811c9ca/microorganisms-13-01855-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6857/12388422/a9c70b91360e/microorganisms-13-01855-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6857/12388422/4991b98e2ed4/microorganisms-13-01855-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6857/12388422/1fab6811c9ca/microorganisms-13-01855-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6857/12388422/a9c70b91360e/microorganisms-13-01855-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6857/12388422/4991b98e2ed4/microorganisms-13-01855-g003.jpg

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Diagnostics (Basel). 2024 Mar 25;14(7):686. doi: 10.3390/diagnostics14070686.
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Detection of pulmonary actinomycosis by metagenomic next-generation sequencing in a cancer patient receiving maintenance olaparib: A review and case report.在接受奥拉帕利维持治疗的癌症患者中通过宏基因组下一代测序检测肺放线菌病:一项综述及病例报告
Respir Med Case Rep. 2024 Mar 16;48:102007. doi: 10.1016/j.rmcr.2024.102007. eCollection 2024.
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Enhancing Clinical Utility: Utilization of International Standards and Guidelines for Metagenomic Sequencing in Infectious Disease Diagnosis.
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Int J Mol Sci. 2024 Mar 15;25(6):3333. doi: 10.3390/ijms25063333.
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Acute Pulmonary Actinomycosis Induced by Immunotherapy and Chemotherapy Used for SCLC Treatment: A Case Report and Literature Review.免疫治疗和化疗用于小细胞肺癌治疗诱发的急性肺放线菌病:一例报告及文献综述
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