ArticleNeuro-oncology2020
Neurologic and oncologic features of Erdheim-Chester disease: a 30-patient series.
Article in Neuro-oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Rosai-Dorfman-Destombes disease of the nervous system: a systematic literature review.Orphanet journal of rare diseases · 2022Pooled it
- Efficacy and Tolerance of Cladribine for Non-Langerhans Cell Histiocytosis.European journal of haematology · 2026Article
- RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.Cancer cell · 2026Article
- Case Report: Neuropsychiatric instability in structurally compromised CNS Erdheim-Chester disease: a diagnostic and management challenge.Frontiers in psychiatry · 2026Article
- Refractory Tumorous and Neurodegenerative Histiocytosis Treated With Intra-Arterial Chemotherapy.Neurology(R) neuroimmunology & neuroinflammation · 2025Article
- Neuroimaging Spectrum of Erdheim-Chester Disease: An Image-Based Review.AJNR. American journal of neuroradiology · 2025Review
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- Article
- Real-world experience with targeted therapy in patients with histiocytic neoplasms in the Netherlands and in Belgium.Blood neoplasia · 2024Article
- Erdheim-Chester Disease Masquerading as CLIPPERS.Neurology(R) neuroimmunology & neuroinflammation · 2024Article
- A microglia clonal inflammatory disorder in Alzheimer's Disease.bioRxiv : the preprint server for biology · 2024Article
- Mechanism of neurodegeneration mediated by clonal inflammatory microglia.bioRxiv : the preprint server for biology · 2024Article
- Mixed histiocytic neoplasms: A multicentre series revealing diverse somatic mutations and responses to targeted therapy.British journal of haematology · 2024Article
- Outcomes after interruption of targeted therapy in patients with histiocytic neoplasms.British journal of haematology · 2023Article
- Comparison of neuroimaging features of histiocytic neoplasms with central nervous system involvement: a retrospective study of 121 adult patients.European radiology · 2023Article
- Novel paraneoplastic mechanism for cerebellar ataxia in Erdheim-Chester disease.BMJ case reports · 2023Article
- Successful treatment of non-Langerhans cell histiocytosis with the MEK inhibitor trametinib: a multicenter analysis.Blood advances · 2023Article
- Neurological Erdheim-Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature.Brain sciences · 2022Article
- Preceding polydipsia/polyuria, ataxia, and dysarthria in an adult with mixed histiocytosis (Erdheim Chester disease/Langerhans cell histiocytosis).Annals of hematology · 2022Article
- Erdheim-Chester Disease with Isolated CNS Involvement: A Systematic Review of the Literature.Neurology international · 2022Review
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15 authors at 1 institution in 1 country.
Funding
Abstract
backgroundErdheim-Chester disease (ECD) is a rare histiocytic neoplasm characterized by recurrent alterations in the MAPK (mitogen-activating protein kinase) pathway. The existing literature about the neuro-oncological spectrum of ECD is limited.
methodsWe present retrospective clinical, radiographic, pathologic, molecular, and treatment data from 30 patients with ECD neurohistiocytic involvement treated at a tertiary center.
resultsMedian age was 52 years (range, 7-77), and 20 (67%) patients were male. Presenting symptoms included ataxia in 19 patients (63%), dysarthria in 14 (47%), diabetes insipidus in 12 (40%), cognitive impairment in 10 (33%), and bulbar affect in 9 (30%). Neurosurgical biopsy specimens in 8 patients demonstrated varied morphologic findings often uncharacteristic of typical ECD lesions. Molecular analysis revealed mutations in BRAF (18 patients), MAP2K1 (5), RAS isoforms (2), and 2 fusions involving BRAF and ALK. Conventional therapies (corticosteroids, immunosuppressants, interferon-alpha [IFN-α], cytotoxic chemotherapy) led to partial radiographic response in 8/40 patients (20%) by MRI with no complete responses, partial metabolic response in 4/16 (25%), and complete metabolic response in 1/16 (6%) by 18F-fluorodeoxyglucose (FDG)-PET scan. In comparison, targeted (kinase inhibitor) therapies yielded partial radiographic response in 10/27 (37%) and complete radiographic response in 14/27 (52%) by MRI, and partial metabolic response in 6/25 (24%) and complete metabolic response in 17/25 (68%) by FDG-PET scan.
conclusionsThese data highlight underrecognized symptomatology, heterogeneous neuropathology, and robust responses to targeted therapies across the mutational spectrum in ECD patients with neurological involvement, particularly when conventional therapies have failed.
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