胸膜后胸膜纤维细胞增生症的基因检测超越了成像和组织学评估。

IF 4.6 2区 医学 Q1 RESPIRATORY SYSTEM
Lung Pub Date : 2024-04-01 Epub Date: 2024-03-10 DOI:10.1007/s00408-024-00685-3
Ghadah Alrehaili, Jennifer Kemppainen, Sanjay Kalra, Filippo Pinto E Vairo, Teng Moua, Eunhee S Yi, Alejandro Ferrer, Mrinal M Patnaik, Eva M Carmona
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引用次数: 0

摘要

背景:肺活检仍是诊断纤维化间质性肺病(F-ILD)的金标准,但人们越来越认识到端粒和表面活性蛋白基因中致病基因变异的作用,尤其是在家族性肺纤维化(FPF)中。胸膜后胸膜纤维细胞增生症(PPFE)是一种罕见的疾病,可与包括FPF在内的不同模式的F-ILD并存。该病可呈进行性发展,通常会导致呼吸衰竭和死亡。这项研究检验了一个假设,即基因检测超越了 PPFE 和其他 F-ILD 的放射学和组织学发现,通过确定端粒和表面活性蛋白基因的病理基因变异,进一步为患者和受影响家庭成员的临床决策提供信息:这是一项回顾性研究,研究对象是70例FPF或早发性肺纤维化的F-ILD患者。根据放射学或组织学特征,70 例患者中有 6 例被诊断为 PPFE。所有患者都接受了外周血端粒长度评估(Flow-FISH)或基因检测(使用基于外显子组的定制面板,其中包括与肺纤维化相关的端粒和表面活性蛋白基因):结果:在本文中,我们确定了六个人的 PPFE 放射学或组织病理学分析与端粒生物学紊乱(TBD)或表面活性蛋白基因变异有关。每个病例都涉及个人早发性肺纤维化或家族病史。端粒长度评估和基因检测提供了超越传统放射学和组织病理学评估的见解:结论:检测 TBD 相关基因或表面活性物质蛋白基因的异常,可以大大改进 PPFE 和其他 F-ILD 患者的诊断和治疗策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis.

Background: Lung biopsy remains the gold standard in the diagnosis of fibrotic interstitial lung disease (F-ILD), but there is a growing appreciation of the role of pathogenic gene variants in telomere and surfactant protein genes, especially in familial pulmonary fibrosis (FPF). Pleuroparenchymal fibroelastosis (PPFE) is a rare disease that can coexist with different patterns of F-ILD, including FPF. It can be progressive and often leads to respiratory failure and death. This study tested the hypothesis that genetic testing goes beyond radiological and histological findings in PPFE and other F-ILD further informing clinical decision-making for patients and affected family members by identifying pathological gene variants in telomere and surfactant protein genes.

Methods: This is a retrospective review of 70 patients with F-ILD in the setting of FPF or premature lung fibrosis. Six out of 70 patients were diagnosed with PPFE based on radiological or histological characteristics. All patients underwent telomere length evaluation in peripheral blood by Flow-FISH or genetic testing using a customized exome-based panel that included telomere and surfactant protein genes associated with lung fibrosis.

Results: Herein, we identified six individuals where radiographic or histopathological analyses of PPFE were linked with telomere biology disorders (TBD) or variants in surfactant protein genes. Each case involved individuals with either personal early-onset lung fibrosis or a family history of the disease. Assessments of telomere length and genetic testing offered insights beyond traditional radiological and histopathological evaluations.

Conclusion: Detecting anomalies in TBD-related or surfactant protein genes can significantly refine the diagnosis and treatment strategies for individuals with PPFE and other F-ILD.

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来源期刊
Lung
Lung 医学-呼吸系统
CiteScore
9.10
自引率
10.00%
发文量
95
审稿时长
6-12 weeks
期刊介绍: Lung publishes original articles, reviews and editorials on all aspects of the healthy and diseased lungs, of the airways, and of breathing. Epidemiological, clinical, pathophysiological, biochemical, and pharmacological studies fall within the scope of the journal. Case reports, short communications and technical notes can be accepted if they are of particular interest.
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