European Radiology

, Volume 28, Issue 11, pp 4635–4642 | Cite as

Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAFV600E 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. MalayeriEmail author



To investigate the computed tomography (CT) thoracic findings in Erdheim-Chester disease (ECD) and evaluate the association of these findings with the BRAFV600E mutation.


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.


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).


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.


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



Confidence interval


Computed tomography


Erdheim-Chester disease


Extracellular signal-regulated kinase


Health Insurance Portability and Accountability Act


Langerhans cell histiocytosis


Mitogen-activated protein


Multi-detector computed tomography


National Human Genome Research Institute


Odds ratio


Right coronary artery


Standard deviation


World Health Organization



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.

Compliance with ethical standards


The scientific guarantor of this publication is Ashkan A. Malayeri.

Conflict of interest

The authors of this manuscript declare no relationships with any companies whose products or services may be related to the subject matter of the article.

Statistics and biometry

Rolf Symons, MD, one of the authors, has significant statistical expertise.

Informed consent

Written informed consent was obtained from all patients prior to their participation in the study.

Ethical approval

This was a prospective study approved by the institutional review board at the National Human Genome Research Institute (NHGRI).

Study subjects or cohorts overlap

Clinical aspects of 60 patients of the present cohort were previously reviewed by Estrada-Veras et al. in the paper titled “The clinical spectrum of Erdheim-Chester disease: an observational cohort study” [7].


• observational

• single-centre

• prospective


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Copyright information

© 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 2018

Authors and Affiliations

  • S. Mojdeh Mirmomen
    • 1
  • Arlene Sirajuddin
    • 2
  • Moozhan Nikpanah
    • 1
  • Rolf Symons
    • 1
  • Anna K. Paschall
    • 1
  • Ioannis Papageorgiou
    • 4
  • William A. Gahl
    • 3
  • Kevin O’Brien
    • 3
  • Juvianee I. Estrada-Veras
    • 3
  • Ashkan A. Malayeri
    • 1
    Email author
  1. 1.Radiology and Imaging SciencesNational Institutes of Health Clinical CenterBethesdaUSA
  2. 2.National Heart, Lung, and Blood InstituteNational Institutes of HealthBethesdaUSA
  3. 3.National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical DirectorNational Institutes of Health Clinical CenterBethesdaUSA
  4. 4.Magnetic Resonance Imaging of Epirus (Magnitiki Tomografia Ipirou)IoanninaGreece

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