S Mojdeh Mirmomen1, Arlene Sirajuddin2, Moozhan Nikpanah1, Rolf Symons1, Anna K Paschall1, Ioannis Papageorgiou3, William A Gahl4, Kevin O'Brien4, Juvianee I Estrada-Veras4, Ashkan A Malayeri5. 1. Radiology and Imaging Sciences, National Institutes of Health Clinical Center, 10 Center Dr, Bethesda, MD, 20892, USA. 2. National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA. 3. Magnetic Resonance Imaging of Epirus (Magnitiki Tomografia Ipirou), Ioannina, Greece. 4. National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical Director, National Institutes of Health Clinical Center, Bethesda, MD, USA. 5. Radiology and Imaging Sciences, National Institutes of Health Clinical Center, 10 Center Dr, Bethesda, MD, 20892, USA. ashkan.malayeri@nih.gov.
Abstract
OBJECTIVES: To investigate the computed tomography (CT) thoracic findings in Erdheim-Chester disease (ECD) and evaluate the association of these findings with the BRAFV600E mutation. METHODS: This was a prospective study of patients with ECD (n=61, men=46) who underwent thoracic CT imaging. CT examinations were independently interpreted by two experienced radiologists. Association of imaging findings with BRAFV600E was achieved via the Chi-square or Fisher's exact test and odds ratios (OR) with 95% confidence intervals (CI), as appropriate. RESULTS: Fifty-five ECD patients (90%) showed pulmonary findings, which included interlobular septal thickening (69%), pulmonary nodules (62%), airway thickening (13%) and ground glass opacities (36%). Pulmonary nodules were classified by the pattern of distribution: subpleural regions (36%), lung parenchyma (13%) and both regions (13%). Pleural and mediastinal involvement were present in 15% and 62% of cases, respectively. The most common mediastinal finding was sheathing of the right coronary artery (34%), followed by sheathing of the thoracic aorta (30%). The BRAFV600E mutation, positive in 31 patients, was associated with the frequency of sheathing of the coronary arteries (p = 0.01). CONCLUSIONS: Of the thoracic findings reported in this study, we found a statistically significant positive association between the BRAFV600E mutation and presence of coronary artery sheathing. KEY POINTS: • To assess the degree of thoracic involvement in ECD with CT. • BRAF V600E mutation has a high association with right coronary artery sheathing. • BRAF V600E genetic testing detects patients at high risk of developing RCA sheathing.
OBJECTIVES: To investigate the computed tomography (CT) thoracic findings in Erdheim-Chester disease (ECD) and evaluate the association of these findings with the BRAFV600E mutation. METHODS: This was a prospective study of patients with ECD (n=61, men=46) who underwent thoracic CT imaging. CT examinations were independently interpreted by two experienced radiologists. Association of imaging findings with BRAFV600E was achieved via the Chi-square or Fisher's exact test and odds ratios (OR) with 95% confidence intervals (CI), as appropriate. RESULTS: Fifty-five ECDpatients (90%) showed pulmonary findings, which included interlobular septal thickening (69%), pulmonary nodules (62%), airway thickening (13%) and ground glass opacities (36%). Pulmonary nodules were classified by the pattern of distribution: subpleural regions (36%), lung parenchyma (13%) and both regions (13%). Pleural and mediastinal involvement were present in 15% and 62% of cases, respectively. The most common mediastinal finding was sheathing of the right coronary artery (34%), followed by sheathing of the thoracic aorta (30%). The BRAFV600E mutation, positive in 31 patients, was associated with the frequency of sheathing of the coronary arteries (p = 0.01). CONCLUSIONS: Of the thoracic findings reported in this study, we found a statistically significant positive association between the BRAFV600E mutation and presence of coronary artery sheathing. KEY POINTS: • To assess the degree of thoracic involvement in ECD with CT. • BRAFV600E mutation has a high association with right coronary artery sheathing. • BRAFV600E genetic testing detects patients at high risk of developing RCA sheathing.
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