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液体活检在孤立性脑暗色丝孢霉病诊断中的应用:病例说明

Utility of liquid biopsy in diagnosing isolated cerebral phaeohyphomycosis: illustrative case.

作者信息

Arrighi-Allisan Annie E, Vidaurrazaga Monica M, De Chavez Vincent B, Bryce Clare H, Rutland John W, Paniz-Mondolfi Alberto E, Sordillo Emilia M, Nowak Michael D, Gitman Melissa R, Fuller Risa, Baneman Emily, Yong Raymund L

机构信息

Departments of1Medical Education and.

Departments of2Infectious Diseases and.

出版信息

J Neurosurg Case Lessons. 2022 Jan 31;3(5). doi: 10.3171/CASE21557.

Abstract

BACKGROUND

Cladophialophora bantiana is a dematiaceous, saprophytic fungus and a rare but reported cause of intracranial abscesses due to its strong neurotropism. Although it predominantly affects immunocompetent individuals with environmental exposure, more recently, its significance as a highly lethal opportunistic infection in transplant recipients has been recognized. Successful treatment requires timely but often challenging diagnosis, followed by complete surgical excision. Next-generation sequencing of microbial cell-free DNA (cfDNA) from plasma is a novel diagnostic method with the potential to identify invasive fungal infections more rapidly and less invasively than conventional microbiological testing, including brain biopsy.

OBSERVATIONS

The authors described the case of a recipient of a liver transplant who presented with seizures and was found to have innumerable ring-enhancing intracranial lesions. The Karius Test, a commercially available method of next-generation sequencing of cfDNA, was used to determine the causative organism. Samples from the patient's plasma identified C. bantiana 6 days before culture results of the surgical specimen, allowing optimization of the empirical antifungal regimen, which led to a reduction in the size of the abscesses.

LESSONS

The authors' findings suggest that microbial cfDNA sequencing may be particularly impactful in improving the management of brain abscesses in which the differential diagnosis is wide because of immunosuppression.

摘要

背景

班替枝孢霉是一种暗色腐生真菌,因其具有较强的嗜神经性,是导致颅内脓肿的一种罕见但有报道的病因。虽然它主要影响有环境暴露史的免疫功能正常个体,但最近,其作为移植受者中一种高度致命的机会性感染的重要性已得到认可。成功的治疗需要及时但往往具有挑战性的诊断,随后进行完整的手术切除。对血浆中微生物游离DNA(cfDNA)进行二代测序是一种新型诊断方法,与包括脑活检在内的传统微生物检测相比,它有可能更快速、侵入性更小地识别侵袭性真菌感染。

观察结果

作者描述了一例肝移植受者的病例,该患者出现癫痫发作,发现有无数环形强化的颅内病变。使用Karius检测法(一种cfDNA二代测序的商业可用方法)来确定病原体。患者血浆样本在手术标本培养结果出来6天前就鉴定出了班替枝孢霉,从而优化了经验性抗真菌治疗方案,使脓肿大小缩小。

经验教训

作者的研究结果表明,微生物cfDNA测序在改善因免疫抑制导致鉴别诊断范围广的脑脓肿管理方面可能特别有意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5890/9379749/5ac5cf169c19/CASE21557f1.jpg

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