Structural alteration of lung parenchyma in patients with NF1: a phenotyping study using multidetector computed tomography (MDCT)
Autor: | Johannes Salamon, Maxim Avanesov, Lennart Well, Vincent M. Riccardi, Victor-Felix Mautner, Thorsten Derlin, Azien Laqmani, Gerhard Adam |
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Rok vydání: | 2021 |
Předmět: |
Adult
Male medicine.medical_specialty Neurofibromatosis 1 Adolescent lcsh:Medicine Physical examination Malignant peripheral nerve sheath tumor Gene mutation Nerve Sheath Neoplasms 030218 nuclear medicine & medical imaging 03 medical and health sciences 0302 clinical medicine Positron Emission Tomography Computed Tomography Multidetector Computed Tomography medicine Humans Pharmacology (medical) Medical history Neurofibromatosis Child Lung Genetics (clinical) Retrospective Studies Emphysema medicine.diagnostic_test business.industry Research lcsh:R MDCT Interstitial lung disease Retrospective cohort study General Medicine medicine.disease medicine.anatomical_structure 030220 oncology & carcinogenesis Female Radiology Pulmonary cysts business Pulmonary nodules |
Zdroj: | Orphanet Journal of Rare Diseases Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021) |
ISSN: | 1750-1172 |
Popis: | Background Diffuse interstitial lung disease have been described in Neurofibromatosis type 1 (NF1), but its diversity and prevalence remain unknown. The aim of this study was to assess the prevalence and characteristics of (NF1)-associated lung manifestations in a large single-center study using multidetector computed tomography (MDCT) and to evaluate the smoking history, patients’ age, genetics, and the presence of malignant peripheral nerve sheath tumors (MPNST) as potential influencing factors for lung pathologies. Methods In this retrospective study, 71 patients with NF1 were evaluated for the presence of distinctive lung manifestations like reticulations, consolidations, type of emphysema, pulmonary nodules and cysts. All patients underwent F-18-FDG PET/CT scans, which were reviewed by two experienced radiologists in consensus. Patients’ subgroups were formed based on their smoking history (current smokers/previous smokers/never smokers), age ( 18 years), and presence of MPNST (MPNST/no MPNST). In 57 patients (80%), genetic analysis of sequences coding for the neurofibromin on chromosome 17 was performed, which was correlated with different lung pathologies. Results Among all NF1 patients (33 ± 14 years, 56% females), 17 patients (24%) were current smokers and 62 patients (87%) were > 18 years old. Pulmonary cysts, nodules, and paraseptal emphysema were the most common pulmonary findings (35%, 32%, 30%). The presence of pulmonary metastases, MPNST and centrilobular emphysema was associated with smoking. Cysts were observed only in adults, whereas no significant correlation between age and all other pulmonary findings was found (p > 0.05). Presence of MPNST was accompanied by higher rates of intrapulmonary nodules and pulmonary metastasis. Neither the presence nor absence of any of the specific gene mutations was associated with any particular lung pathology (p > 0.05). Conclusions All pulmonary findings in NF1 patients occurred independently from specific mutation subtypes, suggesting that many NF1 mutations can cause various pulmonary pathologies. The presence of pulmonary metastases, MPNST and centrilobular emphysema was associated with smoking, indicating the value of smoking secession or the advice not to start smoking in NF1 patients as preventive strategy for clinicians. For screening of pulmonary manifestations in NF1 patients, an MDCT besides medical history and physical examination is mandatory in clinical routine. |
Databáze: | OpenAIRE |
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