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. Malayeri

Research output: Contribution to journalArticle

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.• BRAFV600Emutation has a high association with right coronary artery sheathing.• BRAFV600Egenetic testing detects patients at high risk of developing RCA sheathing.

Original languageEnglish (US)
Pages (from-to)1-8
Number of pages8
JournalEuropean Radiology
DOIs
StateAccepted/In press - May 7 2018
Externally publishedYes

Keywords

  • 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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    Mirmomen, S. M., Sirajuddin, A., Nikpanah, M., Symons, R., Paschall, A. K., Papageorgiou, I., Gahl, W. A., O’Brien, K., Estrada-Veras, J. I., & Malayeri, A. A. (Accepted/In press). Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAFV600E mutation. European Radiology, 1-8. https://doi.org/10.1007/s00330-018-5421-3