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01-11-2018 | Chest

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

Authors: 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

Published in: European Radiology | Issue 11/2018

Abstract

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.

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Title: Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAFV600E mutation
Authors: 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
Publication date: 01-11-2018
Publisher: Springer Berlin Heidelberg
Published in: European Radiology / Issue 11/2018
Print ISSN: 0938-7994
Electronic ISSN: 1432-1084
DOI: https://doi.org/10.1007/s00330-018-5421-3

At a glance: The STEP trials

Springer Medicine

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

Abstract

Objectives

Methods

Results

Conclusions

Key Points

At a glance: The STEP trials

Springer Medicine

Abstract

Objectives

Methods

Results

Conclusions

Key Points

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