TY - JOUR
T1 - Abdominal involvement in Erdheim-Chester disease (ECD)
T2 - MRI and CT imaging findings and their association with BRAF V600E mutation
AU - Nikpanah, Moozhan
AU - Kim, Lauren
AU - Mirmomen, S. Mojdeh
AU - Symons, Rolf
AU - Papageorgiou, Ioannis
AU - Gahl, William A.
AU - O’Brien, Kevin
AU - Estrada-Veras, Juvianee I.
AU - Malayeri, Ashkan A.
N1 - Funding Information:
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. 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.
Publisher Copyright:
© 2018, 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.
PY - 2018/9/1
Y1 - 2018/9/1
N2 - 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 BRAFV600Emutation and several abdominal imaging findings. • Considering several associations, evaluating BRAFV600Emutation status is recommended in ECD patients.
AB - 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 BRAFV600Emutation and several abdominal imaging findings. • Considering several associations, evaluating BRAFV600Emutation status is recommended in ECD patients.
KW - Abdomen
KW - Erdheim–Chester disease
KW - Magnetic resonance imaging
KW - Multidetector computed tomography
KW - Proto-oncogene proteins B-Raf
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U2 - 10.1007/s00330-018-5326-1
DO - 10.1007/s00330-018-5326-1
M3 - Article
C2 - 29556768
AN - SCOPUS:85044194122
SN - 0938-7994
VL - 28
SP - 3751
EP - 3759
JO - European radiology
JF - European radiology
IS - 9
ER -