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Chester Erdheim disease

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https://www.readbyqxmd.com/read/29686965/erdheim-chester-disease-case-report-with-testes-involvement-and-review-of-literature
#1
Havva Sezer, Murat Serhat Aygün, Ayşe Armutlu, Ömer Acar, Fikri Okan Falay, Dilek Yazici, Oğuzhan Deyneli, Faruk Alagöl
No abstract text is available yet for this article.
May 2018: Urology Case Reports
https://www.readbyqxmd.com/read/29652657/detection-of-anti-neutrophil-cytoplasmic-and-antinuclear-autoantibodies-favoring-misdiagnoses-in-5-cases-of-erdheim-chester-disease
#2
Filiz Özden, Susanne Schinke, Christoph Thorns, Thomas Eckey, Klaus Dalhoff, Thomas F Münte, Volker Tronnier, Jens Y Humrich, Gabriela Riemekasten, Peter Lamprecht
No abstract text is available yet for this article.
April 10, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29603831/an-autopsy-case-report-differences-in-radiological-images-correlate-with-histology-in-erdheim-chester-disease
#3
Yuuki Ohara, Seiichi Kato, Daisuke Yamashita, Akira Satou, Yoshie Shimoyama, Chie Hamaie, Motoki Sato, Nobutaro Ban, Koji Yamamoto, Takehiro Yamada, Hisashi Kawai, Koichi Ohshima, Shigeo Nakamura, Shinya Toyokuni
p16 activation caused by oncogenic mutations may represent oncogene-induced senescence (OIS), a protective mechanism against oncogenic events. However, OIS can contribute to tumor development via tissue remodeling in some tumors. Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis, is one such tumor. Its clinical and histological features vary, making it difficult to diagnose. Herein, we describe an autopsy of an ECD patient. The patient underwent radiological examinations, including18 F-fluorodeoxyglucose (FDG)-positron emission tomography/computed tomography (PET/CT), bone scintigraphy and CT...
March 30, 2018: Pathology International
https://www.readbyqxmd.com/read/29565699/jak2-v617f-mutation-in-plasma-cell-free-dna-preceding-clinically-overt-myelofibrosis-implications-for-early-diagnosis
#4
Michael Y Choi, Shumei Kato, Huan-You Wang, Jonathan H Lin, Richard B Lanman, Razelle Kurzrock
A 52 year-old man with Erdheim-Chester Disease (ECD) (a non-Lanherhans polyostotic sclerosing histiocytosis) had next-generation sequencing (NGS) performed as part of his diagnostic workup. In addition to the tissue BRAF V600E mutation that is found in over 50% of ECD cases, he was also found to have a JAK2 V617F alteration in cell-free circulating tumor DNA (ctDNA) (liquid biopsy). The latter was thought to be an "incidental" finding, perhaps due to clonal hematopoiesis (though this usually occurs in older individuals), as his blood counts were normal and he had no splenomegaly...
March 22, 2018: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/29556768/abdominal-involvement-in-erdheim-chester-disease-ecd-mri-and-ct-imaging-findings-and-their-association-with-braf-v600e-mutation
#5
Moozhan Nikpanah, Lauren Kim, S Mojdeh Mirmomen, Rolf Symons, Ioannis Papageorgiou, William A Gahl, Kevin O'Brien, Juvianee I Estrada-Veras, Ashkan A Malayeri
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...
March 19, 2018: European Radiology
https://www.readbyqxmd.com/read/29517068/neuroradiologic-manifestations-of-erdheim-chester-disease
#6
Natalie E Parks, Gaurav Goyal, Ronald S Go, Jay Mandrekar, W Oliver Tobin
Background: We describe the neuroradiologic features of a cohort of patients with Erdheim-Chester disease. Methods: We assessed patients at Mayo Clinic Rochester between January 1, 1990, and July 31, 2016, with pathologically confirmed Erdheim-Chester disease (n = 53). Results: Neuroimaging, including head CT (n = 17), brain MRI (n = 39), orbital MRI (n = 15), and spine MRI (n = 16), was available for 42 participants. Median age at diagnosis was 55 years (interquartile range 46-66) with higher male prevalence (33:20)...
February 2018: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/29485431/fdg-pet-ct-findings-of-erdheim-chester-disease-radiologic-response-to-a-novel-treatment-regimen
#7
Esma A Akin, Murat Osman, Amy L Ellenbogen
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans histiocytosis with deposition of lipid-laden macrophages in numerous organs. A 74-year-old man with a history of coronary artery disease, hypertension, and hyperlipidemia presented with nonspecific symptoms including back pain, nausea, vomiting, vertigo, and left leg pain. A neutrophil-predominant elevated WBC count and a bone biopsy revealing histiocytic proliferation positive for CD68 and CD163 and negative for S100 was noted. FDG PET/CT, MRA, and CTA images were obtained...
February 27, 2018: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29469219/erdheim-chester-disease-description-of-2-illustrative-cases-involving-the-lung
#8
Magda Zanelli, Maxwell Smith, Maria Cecilia Mengoli, Lucia Spaggiari, Loredana De Marco, Filippo Lococo, Francesco Puma, Stefano Ascani
Erdheim Chester disease represents a clonal systemic proliferation of histiocytes. Bone is the most common site of involvement, although virtually any organ, including lungs, can be affected. The diagnosis of Erdheim Chester disease can be difficult due to its rarity and protean presentation. The correlation between clinical, radiological and histological findings is mandatory for the identification of the disease. Foamy histiocytes, lacking Langerhans cells markers, represent the typical histological findings, although their absence does not rule out Erdheim Chester disease...
February 22, 2018: Histopathology
https://www.readbyqxmd.com/read/29435464/solving-a-mystery-8-years-later
#9
Hayan Jouni, Ronald S Kuzo, Nandan S Anavekar
Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis with multisystem involvement and insidious symptoms. In this article, we describe an interesting case of Erdheim-Chester disease that was eventually diagnosed 8 years after symptoms initially started.
January 2018: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/29357606/cutaneous-manifestations-of-paediatric-erdheim-chester-disease-a-histiocytosis-of-the-l-group
#10
F Chasset, J Haroche
No abstract text is available yet for this article.
January 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29285599/computed-tomography-and-magnetic-resonance-imaging-of-peripelvic-and-periureteric-pathologies
#11
REVIEW
Ekim Gumeler, Mehmet Ruhi Onur, Ali Devrim Karaosmanoglu, Mustafa Ozmen, Deniz Akata, Musturay Karcaaltincaba
Peripelvic and periureteric areas are frequently overlooked in the imaging evaluations of the urinary system on computed tomography and magnetic resonance imaging. Several neoplastic and non-neoplastic disorders and diseases including lipomatosis, angiomyolipoma and angiolipomatous proliferation, vascular lesions, lymphangiomatosis, Rosai-Dorfman disease, Erdheim-Chester disease, extramedullary hematopoiesis, IgG4-related disease, lymphoma, mesenchymal tumors, trauma, and Antopol-Goldman lesion may involve these areas...
December 28, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/29281781/erdheim-chester-disease-involving-lymph-nodes-and-liver-clinically-mimicking-lymphoma-a-case-report
#12
Yeoun Eun Sung, Yoon Seo Lee, Jieun Lee, Kyo Young Lee
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis and multisystem disease. First described in 1930, there are no more than 750 cases reported. The etiology remains unknown, but a majority of cases of ECD and Langerhans cell histiocytosis were found to have clonal mutations involving genes of the MAPK pathway. We recently encountered a 53-year-old male patient with extensive ECD involving the systemic lymph nodes, pleura, liver, and long bones clinically mimicking malignant lymphoma. Biopsies were performed at multiple sites, including a pleural mass, an external iliac lymph node, bone marrow, and the liver...
December 27, 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/29225878/erdheim-chester-disease-with-atrial-mass-and-perinephric-calcification
#13
Michel Villatoro-Villar, Matthew J Koster
Erdheim-Chester Disease is a multi-systemic condition characterized by non-Langerhans histiocytic infiltration. Cardiovascular involvement with pseudotumoral infiltration of the right atrium is present in approximately one-third of patients and may be asymptomatic. Although retroperitoneal fibrosis is common, perinephric dystrophic calcification has not been previously described.
December 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29214086/erdheim-chester-disease-with-no-skeletal-bone-involvement-and-massive-weight-loss
#14
Hind Salama, Suleiman Kojan, Shaima Abdulrahman, Fahad Azzumeea, Ayman Alhejazi
Erdheim-Chester disease (ECD) is a rare type of non-Langerhans cell histiocytosis, with only 550 cases reported worldwide. ECD is characterized by diffuse histiocytic infiltration of multiorgans. The age of presentation of this disease is typically between 40 and 70 years. Bone disease is the most common symptom, as unique radiological findings of long bone sclerosis occur in 96% of cases. Furthermore, BRAF V600E mutation is detected in 60% of ECD cases. In this manuscript, we are describing a unique case of ECD; the patient is younger than most reported cases and has no bone pain or any skeletal involvement...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29204962/adult-leukoencephalopathies-with-prominent-infratentorial-involvement-can-be-caused-by-erdheim-chester-disease
#15
Luisa Chiapparini, Giulio Cavalli, Tiziana Langella, Anna Venerando, Giacomo De Luca, Sergio Raspante, Giorgio Marotta, Bianca Pollo, Giuseppe Lauria, Maria Giulia Cangi, Simonetta Gerevini, Andrea Botturi, Davide Pareyson, Lorenzo Dagna, Ettore Salsano
BACKGROUND: Leukoencephalopathies with prominent involvement of cerebellum and brainstem, henceforward called prominent infratentorial leukoencephalopathies (PILs), encompass a variety of inherited and acquired white matter diseases. Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis likely under-diagnosed as cause of adult PIL. METHODS: We reviewed the clinical and laboratory information of ten consecutive sporadic adult patients with PIL of unknown origin, who were investigated for ECD...
February 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29195598/orphan-drug-approval-for-erdheim-chester-disease
#16
EDITORIAL
The Lancet Haematology
No abstract text is available yet for this article.
December 2017: Lancet Haematology
https://www.readbyqxmd.com/read/29192649/the-histopathology-of-erdheim-chester-disease-a-comprehensive-review-of-a-molecularly-characterized-cohort
#17
Neval Ozkaya, Marc K Rosenblum, Benjamin H Durham, Janine D Pichardo, Omar Abdel-Wahab, Meera R Hameed, Klaus J Busam, William D Travis, Eli L Diamond, Ahmet Dogan
Erdheim-Chester disease is a rare, non-Langerhans cell histiocytosis histologically characterized by multi-systemic proliferation of mature histiocytes in a background of inflammatory stroma. The disease can involve virtually any organ system; most commonly the bones, skin, retroperitoneum, heart, orbit, lung, and brain are affected. Although a histiocytic proliferation is the histological hallmark of the disease, a wide range of morphological appearances have been described as part of case studies or small series...
December 1, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29191545/intracranial-erdheim-chester-disease-mimicking-parafalcine-meningioma-report-of-two-cases-and-review-of-the-literature
#18
Kathryn M Wagner, Jacob J Mandel, J Clay Goodman, Shankar Gopinath, Akash J Patel
BACKGROUND: Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis that typically occurs in middle-aged patients. It is usually characterized by multifocal osteosclerotic lesions of the long-bones, however many cases have extraskeletal involvement. Central nervous system (CNS) involvement is common, but isolated CNS involvement at presentation has rarely been reported. CASE DESCRIPTION: Here we report two cases of dural-based ECD mimicking meningioma on imaging with no other identified sites of disease...
February 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29188284/vemurafenib-for-braf-v600-mutant-erdheim-chester-disease-and-langerhans-cell-histiocytosis-analysis-of-data-from-the-histology-independent-phase-2-open-label-ve-basket-study
#19
Eli L Diamond, Vivek Subbiah, A Craig Lockhart, Jean-Yves Blay, Igor Puzanov, Ian Chau, Noopur S Raje, Jurgen Wolf, Joseph P Erinjeri, Jean Torrisi, Mario Lacouture, Elena Elez, Ferran Martínez-Valle, Benjamin Durham, Maria E Arcila, Gary Ulaner, Omar Abdel-Wahab, Bethany Pitcher, Martina Makrutzki, Todd Riehl, José Baselga, David M Hyman
Importance: The histiocytic neoplasms Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) are highly enriched for BRAF V600 mutations and have been previously shown to be responsive to treatment with vemurafenib, an inhibitor of the BRAF V600 kinase. However, the long-term efficacy and safety of prolonged vemurafenib use in these patients are not defined. Here we analyze the final efficacy and safety data for vemurafenib in patients with ECD and LCH enrolled in the VE-BASKET study...
March 1, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/29145922/erdheim-chester-disease-and-palatal-tremor
#20
Natalie E Parks, R Allan Purdy
No abstract text is available yet for this article.
January 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
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