TY - JOUR
T1 - Thoracic involvement in Erdheim-Chester disease
T2 - computed tomography imaging findings and their association with the BRAF V600E mutation
AU - Mirmomen, S. Mojdeh
AU - Sirajuddin, Arlene
AU - Nikpanah, Moozhan
AU - Symons, Rolf
AU - Paschall, Anna K.
AU - Papageorgiou, Ioannis
AU - Gahl, William A.
AU - O’Brien, Kevin
AU - Estrada-Veras, Juvianee I.
AU - Malayeri, Ashkan A.
N1 - Funding Information:
Funding This work was supported by the Intramural Research programs of the National Human Genome Research Institute, the National Heart, Lung and Blood Institute, the Center for Cancer Research-National Cancer Institute and the National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
Publisher Copyright:
© 2018, This is a U.S. government work and its text is not subject to copyright protection in the United States; however, its text may be subject to foreign copyright protection.
PY - 2018/11/1
Y1 - 2018/11/1
N2 - Objectives: To investigate the computed tomography (CT) thoracic findings in Erdheim-Chester disease (ECD) and evaluate the association of these findings with the BRAF V600E 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 BRAF V600E 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 BRAF V600E 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 BRAF V600E 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.
AB - Objectives: To investigate the computed tomography (CT) thoracic findings in Erdheim-Chester disease (ECD) and evaluate the association of these findings with the BRAF V600E 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 BRAF V600E 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 BRAF V600E 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 BRAF V600E 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.
KW - Erdheim-Chester disease
KW - Genetic association study
KW - Multidetector computed tomography
KW - Proto-oncogene proteins B-raf
KW - Thorax
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U2 - 10.1007/s00330-018-5421-3
DO - 10.1007/s00330-018-5421-3
M3 - Article
C2 - 29736852
AN - SCOPUS:85046537165
VL - 28
SP - 4635
EP - 4642
JO - European Radiology
JF - European Radiology
SN - 0938-7994
IS - 11
ER -