Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF V600E mutation

S. Mojdeh Mirmomen, Arlene Sirajuddin, Moozhan Nikpanah, Rolf Symons, Anna K. Paschall, Ioannis Papageorgiou, William A. Gahl, Kevin O’Brien, Juvianee I. Estrada-Veras, Ashkan A. Malayeri

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)4635-4642
Number of pages8
JournalEuropean radiology
Issue number11
StatePublished - Nov 1 2018
Externally publishedYes


  • Erdheim-Chester disease
  • Genetic association study
  • Multidetector computed tomography
  • Proto-oncogene proteins B-raf
  • Thorax

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging


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