Moozhan Nikpanah1, Lauren Kim1, S Mojdeh Mirmomen1, Rolf Symons1, Ioannis Papageorgiou2, William A Gahl3, Kevin O'Brien3, Juvianee I Estrada-Veras3, Ashkan A Malayeri4. 1. Radiology and Imaging Sciences, National Institutes of Health Clinical Center, 10 Center Dr, Bethesda, MD, 20892, USA. 2. Magnetic Resonance Imaging of Epirus (Magnitiki Tomografia Ipirou), Ioannina, Greece. 3. National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical Director, NIH, Bethesda, MD, USA. 4. Radiology and Imaging Sciences, National Institutes of Health Clinical Center, 10 Center Dr, Bethesda, MD, 20892, USA. ashkan.malayeri@nih.gov.
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.
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 ECDpatients (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 ECDpatients. 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 BRAFV600E mutation and several abdominal imaging findings. • Considering several associations, evaluating BRAFV600E mutation status is recommended in ECDpatients.
Authors: Steven H Swerdlow; Elias Campo; Stefano A Pileri; Nancy Lee Harris; Harald Stein; Reiner Siebert; Ranjana Advani; Michele Ghielmini; Gilles A Salles; Andrew D Zelenetz; Elaine S Jaffe Journal: Blood Date: 2016-03-15 Impact factor: 22.113
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 Journal: Eur Radiol Date: 2018-05-07 Impact factor: 5.315
Authors: Skand Shekhar; Ninet Sinaii; Jorge A Irizarry-Caro; William A Gahl; Juvianee I Estrada-Veras; Rahul Dave; Georgios Z Papadakis; Amit Tirosh; Brent S Abel; Joanna Klubo-Gwiezdzinska; Monica C Skarulis; Bernadette R Gochuico; Kevin O'Brien; Fady Hannah-Shmouni Journal: JAMA Netw Open Date: 2020-10-01