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基因组分类器在确定新诊断的间质性肺病中的实际应用。

Real-world utility of a genomic classifier in establishing a diagnosis of newly identified interstitial lung disease.

机构信息

Division of Pulmonary and Critical Care, Department of Medicine, Medical College of Wisconsin, 8701W Watertown Plank, Milwaukee, WI, United States.

Department of Medicine, Medical College of Wisconsin, Milwaukee, WI, United States.

出版信息

Respir Med Res. 2023 Jun;83:100996. doi: 10.1016/j.resmer.2023.100996. Epub 2023 Jan 20.

DOI:10.1016/j.resmer.2023.100996
PMID:36812772
Abstract

BACKGROUND

Diagnosing interstitial lung disease (ILD) remains challenging. Guidelines recommend utilizing a multidisciplinary discussion (MDD) to review clinical and radiographic data and if diagnostic uncertainty persists, then to obtain histopathology. Surgical lung biopsy and transbronchial lung cryobiopsy (TBLC) are acceptable methods, but risks of complications may be prohibitive. The Envisia genomic classifier (EGC) represents another option to determine a molecular usual interstitial pneumonia (UIP) signature to facilitate an ILD diagnosis at MDD with high sensitivity and specificity. We evaluated the concordance between TBLC and EGC at MDD and the safety of this procedure.

METHODS

Demographic data, pulmonary function values, chest imaging pattern, procedural information, and MDD diagnosis were recorded. Concordance was defined as agreement between the molecular EGC results and histopathology from TBLC in the context of the patient's High Resolution CT pattern.

RESULTS

49 patients were enrolled. Imaging demonstrated a probable (n = 14) or indeterminate (n = 7) UIP pattern in 43% and an alternative pattern in 57% (n = 28). EGC results were positive for UIP in 37% (n = 18) and negative in 63% (n = 31). MDD diagnosis was obtained in 94% (n = 46) with fibrotic hypersensitivity pneumonitis (n = 17, 35%) and IPF (n = 13, 27%) most common. The concordance between EGC and TBLC at MDD was 76% (37/49) with discordant results seen in 24% (12/49) of patients.

CONCLUSIONS

There appears to be reasonable concordance between EGC and TBLC results at MDD. Efforts clarifying the contributions of these tools to an ILD diagnosis may help identify specific patient populations that may benefit from a tailored diagnostic approach.

摘要

背景

诊断间质性肺病(ILD)仍然具有挑战性。指南建议利用多学科讨论(MDD)来审查临床和影像学数据,如果诊断仍存在不确定性,则获取组织病理学。外科肺活检和经支气管肺冷冻活检(TBLC)是可接受的方法,但并发症的风险可能是不可接受的。Envisia 基因组分类器(EGC)是另一种选择,可以确定分子特发性间质性肺炎(UIP)特征,以便在 MDD 中以高灵敏度和特异性进行 ILD 诊断。我们评估了 TBLC 和 EGC 在 MDD 中的一致性以及该程序的安全性。

方法

记录人口统计学数据、肺功能值、胸部影像学模式、程序信息和 MDD 诊断。一致性定义为分子 EGC 结果与 TBLC 组织病理学之间的一致性,同时考虑到患者的高分辨率 CT 模式。

结果

共纳入 49 例患者。影像学显示可能(n=14)或不确定(n=7)UIP 模式占 43%,替代模式占 57%(n=28)。EGC 结果 UIP 阳性占 37%(n=18),阴性占 63%(n=31)。94%(n=46)的患者获得了 MDD 诊断,其中纤维化性过敏性肺炎(n=17,35%)和特发性肺纤维化(n=13,27%)最常见。EGC 和 TBLC 在 MDD 中的一致性为 76%(37/49),24%(12/49)的患者存在不一致结果。

结论

EGC 和 TBLC 在 MDD 中的结果似乎具有合理的一致性。努力阐明这些工具对 ILD 诊断的贡献可能有助于确定可能受益于量身定制诊断方法的特定患者群体。

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