Among 64 patients with Erdheim-Chester disease treated with a BRAF-inhibitor (median follow up 4 years), we found high response rates (85%) but frequent discontinuations (61%), primarily due to adverse events. Additionally, patients experienced persistently poor health-related quality of life.
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Clinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim-Chester Disease (ECD).
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Clinical Research Branch, National Institute of Environmental Health Sciences, National Institutes of Health (NIH), Research Triangle Park, NC 27709, USA.
Purpose: Erdheim-Chester disease (ECD) is an L Group Langerhans histiocytosis associated with pathogenic variants within the MAPK pathways, most commonly the gene. We analyzed prevalence, genetic, biochemical, and pituitary imaging features associated with arginine vasopressin deficiency (AVP-D), one of the most common endocrinopathies in ECD.
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A patient with Eradheim-Chester disease presenting with progressive cystic lung lesions and confirmed pulmonary artery hypertension: a case report.
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Department of Respiratory and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Background: Erdheim-Chester disease (ECD), a rare type of non-Langerhans cell histiocytosis, was classified as a haematopoietic tumour by the World Health Organization (WHO) in 2016. It involves multiple systems and is challenging to diagnose due to its broad spectrum of clinical manifestations. The pulmonary manifestations of ECD lack specificity.
View Article and Find Full Text PDFCase report: Pulmonary non-Langerhans cell histiocytosis in a dog with acute interstitial granulomatous pneumonia.
Front Vet Sci
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Department of Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins, CO, United States.
Background: Pulmonary involvement of Non-Langerhans Cell Histiocytosis (PNLCH) is a rare cause of interstitial pulmonary disease in people and are classified as either Erdheim-Chester disease (ECD) or Rosai-Dorfman disease (RDD). In veterinary medicine, feline pulmonary Langerhans cell histiocytosis (PLCH) has been identified as an infiltrative histiocytic disorder with an insidious onset of progressive respiratory distress and is non-responsiveness to empiric therapies. Unfortunately, subsequent death either from respiratory failure or humane euthanasia are the reported outcomes in all reported cases.
View Article and Find Full Text PDFLong-term outcomes with single-agent BRAF inhibitor therapy in Erdheim-Chester disease.
Blood
March 2025
Memorial Sloan Kettering Cancer Center, New York, New York, United States.
Among 64 patients with Erdheim-Chester disease treated with a BRAF-inhibitor (median follow up 4 years), we found high response rates (85%) but frequent discontinuations (61%), primarily due to adverse events. Additionally, patients experienced persistently poor health-related quality of life.
View Article and Find Full Text PDFAn unusual case of multiple primary tumours involving the long bone and oral cavity.
Oral Maxillofac Surg
March 2025
Department of Oral & Maxillofacial Clinical Sciences, Faculty of Dentistry, University of Malaya, Kuala Lumpur, 50603, Malaysia.
Purpose Of Review: Multiple primary tumours (MPTs) are a rare clinical entity, and the co-occurrence of synchronous and metachronous MPTs in a single patient is even more exceptional. In the context of Erdheim-Chester Disease (ECD), an already uncommon disorder, the presentation of this disease in the oral cavity is notably rare. Furthermore, the simultaneous presence of ECD in the oral cavity and a Giant Cell Tumour (GCT) in a long bone has not been previously reported in medical literature.
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