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European Radiology

, Volume 28, Issue 9, pp 3751–3759 | Cite as

Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation

  • Moozhan Nikpanah
  • Lauren Kim
  • S. Mojdeh Mirmomen
  • Rolf Symons
  • Ioannis Papageorgiou
  • William A. Gahl
  • Kevin O’Brien
  • Juvianee I. Estrada-Veras
  • Ashkan A. Malayeri
Urogenital

Abstract

Objectives

To use magnetic resonance imaging (MRI) and computed tomography (CT) to define abdominal involvement in Erdheim–Chester disease (ECD), and to investigate the association between these findings and the BRAFV600E mutation.

Methods

This prospective study was performed on 61 ECD patients (46 men). The MRI and CT imaging studies were reviewed independently by two experienced radiologists. The association between BRAFV600E mutation and imaging findings was analysed using Fisher’s exact test, and odds ratios with 95% confidence intervals.

Results

Perinephric infiltration was the most common finding (67%), followed by involvement of proximal ureters (61%). In 56% of cases, infiltration extended to the renal sinuses, and in 38% caused hydronephrosis. Adrenal gland infiltration was present in 48% of patients. Infiltration of renal artery (49%) and aorta (43%) were the most common vascular findings, followed by sheathing of celiac, superior mesenteric artery (SMA) or inferior mesenteric artery (IMA) (23%). The BRAFV600E mutation was positive in 53% of patients with interpretable BRAF sequencing. There was a statistically significant association between this mutation and perinephric infiltration (p = 0.003), renal sinus involvement (p < 0.001), infiltration of proximal ureters (p < 0.001), hydronephrosis (p < 0.001), adrenal gland involvement (p < 0.001), periaortic infiltration (p = 0.03), sheathing or stenosis of renal artery (p < 0.001) and sheathing of other aortic branches (p = 0.04).

Conclusions

Renal and vascular structures are the most commonly affected abdominal organs in ECD patients. Some of these findings have significant positive association with the BRAFV600E mutation.

Key Points

• Abdominal imaging plays a crucial role in management of Erdheim–Chester disease.

• Significant associations exist between BRAF V600E mutation and several abdominal imaging findings.

• Considering several associations, evaluating BRAFV600E mutation status is recommended in ECD patients.

Keywords

Erdheim–Chester disease Abdomen Magnetic resonance imaging Multidetector computed tomography Proto-oncogene proteins B-Raf 

Abbreviations

1.50 T

1.50 Tesla

3 T

3 Tesla

3D

three-dimensional

CI

confidence interval

CT

computed tomography

ECD

Erdheim–Chester disease

ERK

extracellular signal-regulated kinase

FS

fat saturated

HIPPA

Health Insurance Portability and Accountability Act

IMA

inferior mesenteric artery

IRP

idiopathic retroperitoneal fibrosis

LCH

Langerhans cell histiocytosis

MAP

mitogen-activated protein

MDCT

multidetector computed tomography

MRI

magnetic resonance imaging

NCE

non-contrast enhanced

NHGRI

National Human Genome Research Institute

NIH

National Institutes of Health

OR

odds ratio

SD

standard deviation

SMA

superior mesenteric artery

SSFSE

single shot fast spin echo

TE

echo time

TR

repetition time

TSE

turbo spin echo

VIBE

volumetric interpolated breath-hold examination

WHO

World Health Organization

Notes

Acknowledgements

The authors appreciate the cooperation of the Erdheim–Chester Disease Global Alliance, as well as the ECD patients who participated in the present study. We would also like to thank Anna K. Paschall, Faraz Farhadi (NIH Radiology and Imaging Sciences) and Douglas Joubert (NIH Library Editing Service) for reviewing the manuscript and Robert Evers (NIH Radiology and Imaging Sciences) for MRI technical support.

Funding

This study has received funding by 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

Guarantor

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

One of the authors (Rolf Symons, M.D.) has significant statistical expertise.

Informed consent

Written informed consent was obtained from all subjects (patients) in this study.

Ethical approval

Institutional review board approval was obtained from institutional review board at the National Human Genome Research Institute (NHGRI), Bethesda, MD, USA.

Study subjects or cohorts overlap

Some study subjects or cohorts have been previously reported in the paper titled “The clinical spectrum of Erdheim–Chester disease: an observational cohort study” by Estrada-Veras et al.

Methodology

• This was an observational prospective single-centre study.

Supplementary material

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ESM 1

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High resolution image (TIFF 138 kb)

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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 2018

Authors and Affiliations

  • Moozhan Nikpanah
    • 1
  • Lauren Kim
    • 1
  • S. Mojdeh Mirmomen
    • 1
  • Rolf Symons
    • 1
  • Ioannis Papageorgiou
    • 2
  • William A. Gahl
    • 3
  • Kevin O’Brien
    • 3
  • Juvianee I. Estrada-Veras
    • 3
  • Ashkan A. Malayeri
    • 1
  1. 1.Radiology and Imaging SciencesNational Institutes of Health Clinical CenterBethesdaUSA
  2. 2.Magnetic Resonance Imaging of Epirus (Magnitiki Tomografia Ipirou)IoanninaGreece
  3. 3.National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical DirectorNIHBethesdaUSA

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