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Paulo Donato - One of the best experts on this subject based on the ideXlab platform.
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Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester Disease: CT, MR and PET imaging findings
Insights into Imaging, 2014Co-Authors: Celia Antunes, Bruno Graca, Paulo DonatoAbstract:Background Erdheim-Chester Disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits. Methods Both radiography and technetium-99m bone scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. For visceral involvement, computed tomography (CT) is most useful, while magnetic resonance (MR) imaging is more sensitive for cardiovascular lesions; 2-[fluorine-18] fluoro-2-deoxy-d-glucose (FDG) positron emission tomography (PET)/CT scanning is useful in assessing the extension of ECD lesions. Results The prognosis is extremely variable and is often worse when there is cardiovascular system involvement. Diagnosis is based on the combination of radiographic, CT, MR imaging and nuclear medicine features and a nearly pathognomonic immunohistochemical profile. Conclusion The aims of this work are to perform a systematic review of Erdheim-Chester Disease as seen on imaging of the chest, abdomen and musculoskeletal system and to discuss the diagnostic workup and differential diagnoses according to the imaging presentation. Teaching points • Bone involvement is usually present in patients, and the imaging findings are pathognomonic of ECD. • The circumferential periaortic infiltration may extend to its branches, sometimes becoming symptomatic. • Cardiac involvement—the pericardium, right atrium and auriculoventricular sulcus—worsens its prognosis. • Perirenal infiltration extending to the proximal ureter is highly suggestive of this Disease.
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thoracic abdominal and musculoskeletal involvement in Erdheim Chester Disease ct mr and pet imaging findings
Insights Into Imaging, 2014Co-Authors: Celia Antunes, Bruno Graca, Paulo DonatoAbstract:Background Erdheim-Chester Disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits.
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thoracic abdominal and musculoskeletal involvement in Erdheim Chester Disease ct mr and pet imaging findings
Insights Into Imaging, 2014Co-Authors: Celia Antunes, Bruno Graca, Paulo DonatoAbstract:Erdheim-Chester Disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits. Both radiography and technetium-99m bone scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. For visceral involvement, computed tomography (CT) is most useful, while magnetic resonance (MR) imaging is more sensitive for cardiovascular lesions; 2-[fluorine-18] fluoro-2-deoxy-d-glucose (FDG) positron emission tomography (PET)/CT scanning is useful in assessing the extension of ECD lesions. The prognosis is extremely variable and is often worse when there is cardiovascular system involvement. Diagnosis is based on the combination of radiographic, CT, MR imaging and nuclear medicine features and a nearly pathognomonic immunohistochemical profile. The aims of this work are to perform a systematic review of Erdheim-Chester Disease as seen on imaging of the chest, abdomen and musculoskeletal system and to discuss the diagnostic workup and differential diagnoses according to the imaging presentation. Teaching points • Bone involvement is usually present in patients, and the imaging findings are pathognomonic of ECD. • The circumferential periaortic infiltration may extend to its branches, sometimes becoming symptomatic. • Cardiac involvement—the pericardium, right atrium and auriculoventricular sulcus—worsens its prognosis. • Perirenal infiltration extending to the proximal ureter is highly suggestive of this Disease.
Celia Antunes - One of the best experts on this subject based on the ideXlab platform.
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Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester Disease: CT, MR and PET imaging findings
Insights into Imaging, 2014Co-Authors: Celia Antunes, Bruno Graca, Paulo DonatoAbstract:Background Erdheim-Chester Disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits. Methods Both radiography and technetium-99m bone scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. For visceral involvement, computed tomography (CT) is most useful, while magnetic resonance (MR) imaging is more sensitive for cardiovascular lesions; 2-[fluorine-18] fluoro-2-deoxy-d-glucose (FDG) positron emission tomography (PET)/CT scanning is useful in assessing the extension of ECD lesions. Results The prognosis is extremely variable and is often worse when there is cardiovascular system involvement. Diagnosis is based on the combination of radiographic, CT, MR imaging and nuclear medicine features and a nearly pathognomonic immunohistochemical profile. Conclusion The aims of this work are to perform a systematic review of Erdheim-Chester Disease as seen on imaging of the chest, abdomen and musculoskeletal system and to discuss the diagnostic workup and differential diagnoses according to the imaging presentation. Teaching points • Bone involvement is usually present in patients, and the imaging findings are pathognomonic of ECD. • The circumferential periaortic infiltration may extend to its branches, sometimes becoming symptomatic. • Cardiac involvement—the pericardium, right atrium and auriculoventricular sulcus—worsens its prognosis. • Perirenal infiltration extending to the proximal ureter is highly suggestive of this Disease.
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thoracic abdominal and musculoskeletal involvement in Erdheim Chester Disease ct mr and pet imaging findings
Insights Into Imaging, 2014Co-Authors: Celia Antunes, Bruno Graca, Paulo DonatoAbstract:Background Erdheim-Chester Disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits.
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thoracic abdominal and musculoskeletal involvement in Erdheim Chester Disease ct mr and pet imaging findings
Insights Into Imaging, 2014Co-Authors: Celia Antunes, Bruno Graca, Paulo DonatoAbstract:Erdheim-Chester Disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits. Both radiography and technetium-99m bone scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. For visceral involvement, computed tomography (CT) is most useful, while magnetic resonance (MR) imaging is more sensitive for cardiovascular lesions; 2-[fluorine-18] fluoro-2-deoxy-d-glucose (FDG) positron emission tomography (PET)/CT scanning is useful in assessing the extension of ECD lesions. The prognosis is extremely variable and is often worse when there is cardiovascular system involvement. Diagnosis is based on the combination of radiographic, CT, MR imaging and nuclear medicine features and a nearly pathognomonic immunohistochemical profile. The aims of this work are to perform a systematic review of Erdheim-Chester Disease as seen on imaging of the chest, abdomen and musculoskeletal system and to discuss the diagnostic workup and differential diagnoses according to the imaging presentation. Teaching points • Bone involvement is usually present in patients, and the imaging findings are pathognomonic of ECD. • The circumferential periaortic infiltration may extend to its branches, sometimes becoming symptomatic. • Cardiac involvement—the pericardium, right atrium and auriculoventricular sulcus—worsens its prognosis. • Perirenal infiltration extending to the proximal ureter is highly suggestive of this Disease.
Julien Haroche - One of the best experts on this subject based on the ideXlab platform.
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systemic histiocytosis langerhans cell histiocytosis Erdheim Chester Disease destombes rosai dorfman Disease from oncogenic mutations to inflammatory disorders
Current Oncology Reports, 2019Co-Authors: Matthias Papo, Fleur Cohenaubart, Ludovic Trefond, Adeline Bauvois, Zahir Amoura, Julien HarocheAbstract:Provide an overview of recent progress in decoding the pathogenesis and treatment of systemic histiocytoses. Advances in molecular techniques over the last few years, enabling the identification of several MAPK mutations in lesion histiocytes, have revolutionized our understanding of histiocytosis that led to a revised classification and new treatments. Since the 2010 discovery of the BRAFV600E mutation in 57% of Langerhans cell histiocytosis (LCH) lesions, several other kinase mutations have been found, mostly in the MAPK pathway, and also in other key signaling pathways, in LCH, Erdheim–Chester Disease (ECD) and, less frequently, Destombes–Rosai–Dorfman Disease (RDD). Those revolutionary breakthroughs enhanced our understanding of the pathogenesis of histiocytosis and led to trials with targeted therapies that demonstrated notable efficacy.
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uncommon histiocytic disorders rosai dorfman juvenile xanthogranuloma and Erdheim Chester Disease
Hematology, 2015Co-Authors: Julien Haroche, Oussama AblaAbstract:Rosai-Dorfman Disease (RDD), juvenile xanthogranuloma (JXG), and Erdheim-Chester Disease (ECD) are non-Langerhans cell (non-LCH) disorders arising from either a dendritic or a macrophage cell. RDD is a benign disorder that presents with massive lymphadenopathy, but can have extranodal involvement. In most cases, RDD is self-limited and observation is the standard approach. Treatment is restricted to patients with life-threatening, multiple-relapsing, or autoimmune-associated Disease. JXG is a pediatric histiocytosis characterized by xanthomatous skin lesions that usually resolve spontaneously. In a minority of cases, systemic Disease can occur and can be life threatening. Juvenile myelomonocytic leukemia (JMML), as well as germline mutations in NF1 and NF2, have been reported in children with JXG. Recent whole-exome sequencing of JXG cases did not show the BRAF-V600E mutation, although 1 patient had PI3KCD mutation. ECD is an adult histiocytosis characterized by symmetrical long bone involvement, cardiovascular infiltration, a hairy kidney, and retroperitoneal fibrosis. Central nervous system involvement is a poor prognostic factor. Interferon-α is the standard as front-line therapy, although cladribine and anakinra can be effective in a few refractory cases. More than one-half of ECD patients carry the BRAF-V600E mutation. Currently, >40 patients worldwide with multisystemic, refractory BRAF-V600E(+) ECD have been treated with vemurafenib, a BRAF inhibitor, which was found to be highly effective. Other recurrent mutations of the MAP kinase and PI3K pathways have been described in ECD. These discoveries may redefine ECD, JXG, and LCH as inflammatory myeloid neoplasms, which may lead to new targeted therapies.
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reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with braf v600e mutated Erdheim Chester Disease
Journal of Clinical Oncology, 2015Co-Authors: Julien Haroche, Fleur Cohenaubart, Philippe Cluzel, Jeanfrancois Emile, Philippe Maksud, Aurelie Drier, Dan Toledano, S Barete, Frederic Charlotte, Jean DonadieuAbstract:Purpose Histiocytoses are rare disorders with heterogeneous prognosis. BRAF V600E mutations have been observed in half of patients with Langerhans cell histiocytosis (LCH) and in 50% to 100% of patients with Erdheim-Chester Disease (ECD) patients. We recently reported short-term efficacy of a BRAF inhibitor (vemurafenib) in three patients with multisystemic ECD.
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bilateral adrenal infiltration in Erdheim Chester Disease report of seven cases and literature review
The Journal of Clinical Endocrinology and Metabolism, 2007Co-Authors: Julien Haroche, Zahir Amoura, Philippe Touraine, Danielle Seilhean, Claire Graef, Beatrice Birmele, B Wechsler, Philippe Cluzel, P Grenier, Jeancharles PietteAbstract:Context: Erdheim-Chester Disease (ECD) is a rare non-Langerhans form of histiocytosis characterized by xanthomatous tissue infiltration with CD68+ CD1a− foamy histiocytes. Endocrine problems, such as diabetes insipidus and hypogonadotropic hypogonadism, frequently occur in ECD, but bilateral adrenal infiltration has rarely been reported in this Disease. Objective: The aim of the study was to describe adrenal and periadrenal infiltration in ECD. Patients: A total of 22 patients with ECD undergoing systematic computed tomography to search for signs of adrenal enlargement participated in the study. Results: Of the 22 patients with ECD, seven (31.8%) displayed adrenal infiltration on computed tomography. In one case, autopsy confirmed that the adrenal enlargement was due to foamy histiocyte infiltration in the adrenal glands. Possible adrenal insufficiency was assessed in five of the seven patients. One developed signs of adrenal insufficiency, which was confirmed by adrenocorticotropin stimulation tests. Adr...
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bone involvement in Erdheim Chester Disease imaging findings including periostitis and partial epiphyseal involvement
Radiology, 2006Co-Authors: Elisabeth Dion, Zahir Amoura, Julien Haroche, Claire Graef, P Grenier, Anne Miquel, Bertrand Wechsler, Delphine Zeitoun, Jeanclaude Piette, Jeandenis LaredoAbstract:Purpose: To retrospectively review the bone findings at radiography, scintigraphy, computed tomography (CT), and magnetic resonance (MR) imaging in 11 patients with immunohistochemical and histologic proof of Erdheim-Chester Disease. Materials and Methods: This study was designed as a retrospective review; approval of the institutional review board and patient consent were not required for this type of study. Eleven patients (eight men and three women; mean age, 49 years; range, 17–68 years) with Erdheim-Chester Disease underwent conventional radiography of the skeleton and bone scintigraphy. Two patients underwent CT of the femora and 10 underwent CT of the skull. Eight patients underwent MR imaging. Conventional radiographs, bone scintigrams, CT scans, and MR images were reviewed in consensus by four musculoskeletal radiologists. Results: All 11 patients had involvement of the long bones and normal axial skeleton, hands, and feet. Bilateral and symmetric osteosclerosis of the diaphysis of the long bones...
Bruno Graca - One of the best experts on this subject based on the ideXlab platform.
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Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester Disease: CT, MR and PET imaging findings
Insights into Imaging, 2014Co-Authors: Celia Antunes, Bruno Graca, Paulo DonatoAbstract:Background Erdheim-Chester Disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits. Methods Both radiography and technetium-99m bone scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. For visceral involvement, computed tomography (CT) is most useful, while magnetic resonance (MR) imaging is more sensitive for cardiovascular lesions; 2-[fluorine-18] fluoro-2-deoxy-d-glucose (FDG) positron emission tomography (PET)/CT scanning is useful in assessing the extension of ECD lesions. Results The prognosis is extremely variable and is often worse when there is cardiovascular system involvement. Diagnosis is based on the combination of radiographic, CT, MR imaging and nuclear medicine features and a nearly pathognomonic immunohistochemical profile. Conclusion The aims of this work are to perform a systematic review of Erdheim-Chester Disease as seen on imaging of the chest, abdomen and musculoskeletal system and to discuss the diagnostic workup and differential diagnoses according to the imaging presentation. Teaching points • Bone involvement is usually present in patients, and the imaging findings are pathognomonic of ECD. • The circumferential periaortic infiltration may extend to its branches, sometimes becoming symptomatic. • Cardiac involvement—the pericardium, right atrium and auriculoventricular sulcus—worsens its prognosis. • Perirenal infiltration extending to the proximal ureter is highly suggestive of this Disease.
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thoracic abdominal and musculoskeletal involvement in Erdheim Chester Disease ct mr and pet imaging findings
Insights Into Imaging, 2014Co-Authors: Celia Antunes, Bruno Graca, Paulo DonatoAbstract:Background Erdheim-Chester Disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits.
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thoracic abdominal and musculoskeletal involvement in Erdheim Chester Disease ct mr and pet imaging findings
Insights Into Imaging, 2014Co-Authors: Celia Antunes, Bruno Graca, Paulo DonatoAbstract:Erdheim-Chester Disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain and orbits. Both radiography and technetium-99m bone scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. For visceral involvement, computed tomography (CT) is most useful, while magnetic resonance (MR) imaging is more sensitive for cardiovascular lesions; 2-[fluorine-18] fluoro-2-deoxy-d-glucose (FDG) positron emission tomography (PET)/CT scanning is useful in assessing the extension of ECD lesions. The prognosis is extremely variable and is often worse when there is cardiovascular system involvement. Diagnosis is based on the combination of radiographic, CT, MR imaging and nuclear medicine features and a nearly pathognomonic immunohistochemical profile. The aims of this work are to perform a systematic review of Erdheim-Chester Disease as seen on imaging of the chest, abdomen and musculoskeletal system and to discuss the diagnostic workup and differential diagnoses according to the imaging presentation. Teaching points • Bone involvement is usually present in patients, and the imaging findings are pathognomonic of ECD. • The circumferential periaortic infiltration may extend to its branches, sometimes becoming symptomatic. • Cardiac involvement—the pericardium, right atrium and auriculoventricular sulcus—worsens its prognosis. • Perirenal infiltration extending to the proximal ureter is highly suggestive of this Disease.
Ashkan A Malayeri - One of the best experts on this subject based on the ideXlab platform.
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clinical and histopathologic features of interstitial lung Disease in Erdheim Chester Disease
Journal of Clinical Medicine, 2018Co-Authors: Sara G Haroutunian, Ashkan A Malayeri, Mojdeh S Mirmomen, William A Gahl, Juvianee Estradaveras, Kevin J Obrien, Jianhua Yao, Louisa C Boyd, Kavya Mathur, David E KleinerAbstract:Limited information is available regarding interstitial lung Disease (ILD) in Erdheim–Chester Disease (ECD), a rare multisystemic non-Langerhans cell histiocytosis. Sixty-two biopsy-confirmed ECD patients were divided into those with no ILD (19.5%), minimal ILD (32%), mild ILD (29%), and moderate/severe ILD (19.5%), based on computed tomography (CT) findings. Dyspnea affected at least half of the patients with mild or moderate/severe ILD. Diffusion capacity was significantly reduced in ECD patients with minimal ILD. Disease severity was inversely correlated with pulmonary function measurements; no correlation with BRAF V600E mutation status was seen. Reticulations and ground-glass opacities were the predominant findings on CT images. Automated CT scores were significantly higher in patients with moderate/severe ILD, compared to those in other groups. Immunostaining of lung biopsies was consistent with ECD. Histopathology findings included subpleural and septal fibrosis, with areas of interspersed normal lung, diffuse interstitial fibrosis, histiocytes with foamy cytoplasm embedded in fibrosis, lymphoid aggregates, and focal type II alveolar cell hyperplasia. In conclusion, ILD of varying severity may affect a high proportion of ECD patients. Histopathology features of ILD in ECD can mimic interstitial fibrosis patterns observed in idiopathic ILD.
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abdominal involvement in Erdheim Chester Disease ecd mri and ct imaging findings and their association with braf v600e mutation
European Radiology, 2018Co-Authors: Moozhan Nikpanah, Rolf Symons, Lauren Kim, Mojdeh S Mirmomen, Ioannis Papageorgiou, William A Gahl, Kevin P Obrien, Juvianee Estradaveras, Ashkan A MalayeriAbstract: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.