Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation
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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.
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.
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).
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.
• 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.
KeywordsErdheim–Chester disease Abdomen Magnetic resonance imaging Multidetector computed tomography Proto-oncogene proteins B-Raf
- 1.50 T
- 3 T
extracellular signal-regulated kinase
Health Insurance Portability and Accountability Act
inferior mesenteric artery
idiopathic retroperitoneal fibrosis
Langerhans cell histiocytosis
multidetector computed tomography
magnetic resonance imaging
National Human Genome Research Institute
National Institutes of Health
superior mesenteric artery
single shot fast spin echo
turbo spin echo
volumetric interpolated breath-hold examination
World Health Organization
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.
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
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.
Written informed consent was obtained from all subjects (patients) in this study.
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.
• This was an observational prospective single-centre study.
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