학술논문
Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis.
Document Type
Academic Journal
Author
Alrehaili G; Department of Pulmonary and Critical Care, Mayo Clinic, Rochester, MN, USA.; Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Kalra S; Department of Pulmonary and Critical Care, Mayo Clinic, Rochester, MN, USA.; Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Moua T; Department of Pulmonary and Critical Care, Mayo Clinic, Rochester, MN, USA.; Yi ES; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Ferrer A; Hematology/Oncology Departments, Mayo Clinic, Rochester, MN, USA.; Patnaik MM; Hematology/Oncology Departments, Mayo Clinic, Rochester, MN, USA.; Carmona EM; Department of Pulmonary and Critical Care, Mayo Clinic, Rochester, MN, USA. Carmona.eva@mayo.edu.
Source
Publisher: Springer Verlag Country of Publication: United States NLM ID: 7701875 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1750 (Electronic) Linking ISSN: 03412040 NLM ISO Abbreviation: Lung Subsets: MEDLINE
Subject
Language
English
Abstract
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.
(© 2024. The Author(s).)
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.
(© 2024. The Author(s).)