Research & Literature

Complete remission of critical neurohistiocytosis by vemurafenib.

Euskirchen P, Haroche J, Emile JF, et al.

Neurology(R) neuroimmunology & neuroinflammation 2015; (2(2)):e78 doi:10.1212/NXI.0000000000000078.

Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report.

Tzoulis C, Schwarzlmüller T, Gjerde IO, et al.

BMC research notes 2015; (8()):171 doi:10.1186/s13104-015-1135-7.

Epidural spinal involvement of Erdheim-Chester disease causing myelopathy.

Hwang BY, Liu A, Kern J, et al.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2015; (22(9)):1532-6.

Vemurafenib in Multiple Nonmelanoma Cancers with BRAF V600 Mutations.

Hyman DM, Puzanov I, Subbiah V, et al.

The New England journal of medicine 2015; (373(8)):726-36 doi:10.1056/NEJMoa1502309.

Cardiovascular Involvement in Erdheim-Chester Disease: A Case Report and Review of the Literature.

Nicolazzi MA, Carnicelli A, Fuorlo M, et al.

Medicine 2015; (94(43)):e1365 doi:10.1097/MD.0000000000001365.

Biological and clinical significance of somatic mutations in Langerhans cell histiocytosis and related histiocytic neoplastic disorders.

Allen CE, Parsons DW

Hematology. American Society of Hematology. Education Program 2015; (2015()):559-64 doi:10.1182/asheducation-2015.1.559.

Evaluation of clinicopathologic characteristics and the BRAF V600E mutation in Erdheim-Chester disease among Chinese adults.

Cao XX, Sun J, Li J, et al.

Annals of hematology 2016; (95(5)):745-50 doi:10.1007/s00277-016-2606-1.

Successful treatment with cladribine of Erdheim-Chester disease with orbital and central nervous system involvement developing after treatment of Langerhans cell histiocytosis.

Perić P, Antić B, Knezević-Usaj S, et al.

Vojnosanitetski pregled 2016; (73(1)):83-7 doi:10.2298/vsp140915037p.

Erdheim Chester Disease treated successfully with cladribine.

Azadeh N, Tazelaar HD, Gotway MB, et al.

Respiratory medicine case reports 2016; (18()):37-40 doi:10.1016/j.rmcr.2016.03.008.

Erdheim-Chester disease with orbital involvement: Case report and ophthalmic literature review.

Merritt H, Pfeiffer ML, Richani K, Phillips ME

Orbit (Amsterdam, Netherlands) 2016; (35(4)):221-6 doi:10.1080/01676830.2016.1176211.

Multisystem Radiologic Manifestations of Erdheim-Chester Disease.

Lodhi U, Sarmast U, Khan S, Yaddanapudi K

Case reports in radiology 2016; (2016()):2670495 doi:10.1155/2016/2670495.

Erdheim Chester disease with appendicular skeletal, renal and pleural involvement responding to Zelboraf (BRAF inhibitor) treatment: case report.

Borys D, Nystrom L, Song A, Lomasney LM

Skeletal radiology 2016; (45(10)):1397-402 doi:10.1007/s00256-016-2431-6.

Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart.

Zhu P, Li N, Yu L, et al.

Cancer research and treatment 2017; (49(2)):553-558 doi:10.4143/crt.2016.078.

A cytologic diagnosis of BRAFV600E Erdheim-Chester disease on pericardial fluid.

Chasseur P, Kyriakopoulou M, Vokaer B, et al.

Acta clinica Belgica 2017; (72(5)):369-371 doi:10.1080/17843286.2017.1290861.

[Usefulness of nuclear medicine in Erdheim-Chester disease: A Lille experience].

Adens A, Landy P, Terriou L, et al.

La Revue de medecine interne 2017; (38(4)):235-242 doi:10.1016/j.revmed.2016.10.386.

Erdheim-Chester Disease: Comprehensive Review of Molecular Profiling and Therapeutic Advances.

Haroun F, Millado K, Tabbara I

Anticancer research 2017; (37(6)):2777-2783 doi:10.21873/anticanres.11629.

A Fatal Case of Erdheim-Chester Disease with Hepatic Involvement.

Balasubramanian G, Modiri A, Affi M, et al.

ACG case reports journal 2017; (4()):e95 doi:10.14309/crj.2017.95.

Erdheim-Chester Disease: The Importance of Information Integration.

Nikonova A, Esfahani K, Chausse G, et al.

Case reports in oncology 2017; (10(2)):613-619 doi:10.1159/000477658.

[Difficult diagnosis of Erdheim Chester disease revealed by central diabetes insipidus].

Alaya W, Zantour B, Ben Salem W, et al.

Revue medicale de Liege 2017; (72(10)):436-438.

18F-FDG PET/CT in Erdheim-Chester Disease: Imaging Findings and Potential BRAF Mutation Biomarker.

Young JR, Johnson GB, Murphy RC, et al.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2018; (59(5)):774-779 doi:10.2967/jnumed.117.200741.

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.

Diamond EL, Subbiah V, Lockhart AC, et al.

JAMA oncology 2018; (4(3)):384-388 doi:10.1001/jamaoncol.2017.5029.

The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort.

Ozkaya N, Rosenblum MK, Durham BH, et al.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2018; (31(4)):581-597 doi:10.1038/modpathol.2017.160.

Solving a Mystery . . . 8 Years Later.

Jouni H, Kuzo RS, Anavekar NS

Journal of investigative medicine high impact case reports 2018; (6()):2324709617752962 doi:10.1177/2324709617752962.

Erdheim-Chester disease: description of two illustrative cases involving the lung.

Zanelli M, Smith M, Mengoli MC, et al.

Histopathology 2018; (73(1)):167-172 doi:10.1111/his.13501.

Neuroradiologic manifestations of Erdheim-Chester disease.

Parks NE, Goyal G, Go RS, et al.

Neurology. Clinical practice 2018; (8(1)):15-20 doi:10.1212/CPJ.0000000000000422.

Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation.

Nikpanah M, Kim L, Mirmomen SM, et al.

European radiology 2018; (28(9)):3751-3759 doi:10.1007/s00330-018-5326-1.

A Rare Case of Erdheim-Chester Disease (Non-Langerhans Cell Histiocytosis) with Concurrent Langerhans Cell Histiocytosis: A Diagnostic and Therapeutic Challenge.

Hashmi H, Murray D, Greenwell J, et al.

Case reports in hematology 2018; (2018()):7865325 doi:10.1155/2018/7865325.

Prognostic factors of Erdheim-Chester disease: a nationwide survey in Japan.

Toya T, Ogura M, Toyama K, et al.

Haematologica 2018; (103(11)):1815-1824 doi:10.3324/haematol.2018.190728.

Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib.

Huang LC, Topping KL, Gratzinger D, et al.

American journal of ophthalmology case reports 2018; (11()):158-163 doi:10.1016/j.ajoc.2018.07.005.

Dabrafenib and Trametinib Treatment for Erdheim-Chester Disease With Brain Stem Involvement.

Al Bayati A, Plate T, Al Bayati M, et al.

Mayo Clinic proceedings. Innovations, quality & outcomes 2018; (2(3)):303-308 doi:10.1016/j.mayocpiqo.2018.05.001.

Cardiovascular manifestations of Erdheim-Chester disease.

Ghotra AS, Thompson K, Lopez-Mattei J, et al.

Echocardiography (Mount Kisco, N.Y.) 2019; (36(2)):229-236 doi:10.1111/echo.14231.

Clinical and positron emission tomography responses to long-term high-dose interferon-α treatment among patients with Erdheim-Chester disease.

Cao XX, Niu N, Sun J, et al.

Orphanet journal of rare diseases 2019; (14(1)):11 doi:10.1186/s13023-018-0988-y.

Pulmonary histiocytosis: beyond Langerhans cell histiocytosis related to smoking.

Gallego CT, Bueno J, Cruces E, et al.

Radiologia 2019; (61(3)):215-224 doi:10.1016/j.rx.2018.11.003.

Molecular Profiling of Tumor Tissue and Plasma Cell-Free DNA from Patients with Non-Langerhans Cell Histiocytosis.

Janku F, Diamond EL, Goodman AM, et al.

Molecular cancer therapeutics 2019; (18(6)):1149-1157 doi:10.1158/1535-7163.MCT-18-1244.

A new role for fluorine-18-fluorodeoxyglucose positron-emission tomography/computed tomography in Erdheim-Chester disease.

Van Keerberghen CA, Harrouk A, Leone L

World journal of nuclear medicine 2019; (18(2)):201-203 doi:10.4103/wjnm.WJNM_57_18.

The Mayo Clinic Histiocytosis Working Group Consensus Statement for the Diagnosis and Evaluation of Adult Patients With Histiocytic Neoplasms: Erdheim-Chester Disease, Langerhans Cell Histiocytosis, and Rosai-Dorfman Disease.

Goyal G, Young JR, Koster MJ, et al.

Mayo Clinic proceedings 2019; (94(10)):2054-2071 doi:10.1016/j.mayocp.2019.02.023.

Erdheim-Chester disease mimicking lumbar nerve schwannoma: case report and literature review.

Huang Z, Li S, Hong J, et al.

Spinal cord series and cases 2019; (5()):90 doi:10.1038/s41394-019-0234-4.

Bilateral Renal Colic as an Initial Presentation of Erdheim-Chester Disease.

Sarkis J, Haddad F, Nasr S, et al.

Case reports in urology 2019; (2019()):4670376 doi:10.1155/2019/4670376.

Real-World Toxicity Experience with BRAF/MEK Inhibitors in Patients with Erdheim-Chester Disease.

Saunders IM, Goodman AM, Kurzrock R

The oncologist 2020; (25(2)):e386-e390 doi:10.1634/theoncologist.2019-0606.

Erdheim-Chester disease: An in vivo human model of Mϕ activation at the crossroad between chronic inflammation and cancer.

Cavalli G, Dagna L, Biavasco R, et al.

Journal of leukocyte biology 2020; (108(2)):591-599 doi:10.1002/JLB.3MR0120-203RR.

Erdheim-Chester disease.

Haroche J, Cohen-Aubart F, Amoura Z

Blood 2020; (135(16)):1311-1318 doi:10.1182/blood.2019002766.

Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era.

Goyal G, Heaney ML, Collin M, et al.

Blood 2020; (135(22)):1929-1945 doi:10.1182/blood.2019003507.

Neurological manifestations of Erdheim-Chester Disease.

Boyd LC, O'Brien KJ, Ozkaya N, et al.

Annals of clinical and translational neurology 2020; (7(4)):497-506 doi:10.1002/acn3.51014.

Erdheim-Chester disease: a case treated with IFN-α monitored using plasma and urine cell-free DNA.

Yang Z, Zhao S, Zhou J, et al.

Immunotherapy 2020; (12(6)):379-387 doi:10.2217/imt-2019-0150.

Erdheim-Chester disease.

Starkebaum G, Hendrie P

Best practice & research. Clinical rheumatology 2020; (34(4)):101510 doi:10.1016/j.berh.2020.101510.

Clinical presentation, imaging and response to interferon-alpha therapy in Erdheim-Chester disease: case-based review.

Iaremenko O, Petelytska L, Dyadyk O, et al.

Rheumatology international 2020; (40(9)):1529-1536 doi:10.1007/s00296-020-04627-z.

Erdheim-Chester disease: a rapidly evolving disease model.

Pegoraro F, Papo M, Maniscalco V, et al.

Leukemia 2020; (34(11)):2840-2857 doi:10.1038/s41375-020-0944-4.

Dual BRAF/MEK blockade restores CNS responses in BRAF-mutant Erdheim-Chester disease patients following BRAF inhibitor monotherapy.

Mazor RD, Weissman R, Luckman J, et al.

Neuro-oncology advances 2020; (2(1)):vdaa024 doi:10.1093/noajnl/vdaa024.

Central nervous system involvement in Erdheim-Chester disease: An observational cohort study.

Cohen Aubart F, Idbaih A, Galanaud D, et al.

Neurology 2020; (95(20)):e2746-e2754 doi:10.1212/WNL.0000000000010748.

Erdheim-Chester Disease: A Rare Clinical Entity.

Oliveira M, Monteiro S, Dos Santos J, et al.

European journal of case reports in internal medicine 2020; (7(9)):001630 doi:10.12890/2020_001630.

Clinical and Neuroimaging Manifestations of Erdheim-Chester Disease: A Review.

Garg N, Lavi ES

Journal of neuroimaging : official journal of the American Society of Neuroimaging 2021; (31(1)):35-44 doi:10.1111/jon.12785.

18F-FDG PET/CT versus anatomic imaging for evaluating disease extent and clinical trial eligibility in Erdheim-Chester disease: results from 50 patients in a registry study.

Kirchner J, Hatzoglou V, Buthorn JB, et al.

European journal of nuclear medicine and molecular imaging 2021; (48(4)):1154-1165 doi:10.1007/s00259-020-05047-8.

Intracranial mass lesions and skin discoloration in the armpits as unusual clues to Erdheim-Chester disease: a case report.

Rodrigues PGB, Pereira IS, Lima Filho VB, et al.

BMC neurology 2021; (21(1)):81 doi:10.1186/s12883-021-02107-w.

Erdheim-Chester disease: a comprehensive review from the ophthalmologic perspective.

Kanakis M, Petrou P, Lourida G, Georgalas I

Survey of ophthalmology 2022; (67(2)):388-410 doi:10.1016/j.survophthal.2021.05.013.

Histiocytic disorders.

McClain KL, Bigenwald C, Collin M, et al.

Nature reviews. Disease primers 2021; (7(1)):73 doi:10.1038/s41572-021-00307-9.

Histiocytic Neoplasms, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

Go RS, Jacobsen E, Baiocchi R, et al.

Journal of the National Comprehensive Cancer Network : JNCCN 2021; (19(11)):1277-1303.

Role of 18 F-FDG PET/CT in Erdheim-Chester Disease in the Era of Multimodality Imaging.

Jois B, Ananthasivan R, Rawat PRVS, Rakshit S

The Indian journal of radiology & imaging 2021; (31(3)):729-734 doi:10.1055/s-0041-1736164.

A long-term survival case of Erdheim-Chester disease on maintenance hemodialysis.

Konishi R, Morinishi T, Takaori K, et al.

CEN case reports 2022; (11(3)):289-294 doi:10.1007/s13730-021-00680-0.

Erdheim-Chester Disease Successfully Treated with Front-Line Single-Agent Dabrafenib.

Salama H, Fahed Alzayed M, Alharbi KG, et al.

The American journal of case reports 2022; (23()):e935090 doi:10.12659/AJCR.935090.

Rare case of acute renal failure secondary to Erdheim-Chester disease.

Makary J, Rathore P

Urology case reports 2022; (43()):102062 doi:10.1016/j.eucr.2022.102062.

Craniospinal irradiation for respiratory failure secondary to central nervous system Erdheim-Chester disease.

Prasad RN, Kobalka PJ, Perlow HK, et al.

Radiation oncology journal 2022; (40(2)):162-168 doi:10.3857/roj.2021.01074.

A Patient with Erdheim-Chester Disease Limited to Central Nervous System.

Gupta RK, Haque A, Reddy TA, Pérez CA

Neurology international 2022; (14(3)):678-682 doi:10.3390/neurolint14030056.

Erdheim-Chester disease: Typical radiologic findings of a multisystemic disease.

Peixoto A, Martins G, Leitão J

Radiology case reports 2022; (17(12)):4859-4867 doi:10.1016/j.radcr.2022.08.097.

Successful treatment of non-Langerhans cell histiocytosis with the MEK inhibitor trametinib: a multicenter analysis.

Aaroe A, Kurzrock R, Goyal G, et al.

Blood advances 2023; (7(15)):3984-3992 doi:10.1182/bloodadvances.2022009013.

Erdheim-Chester disease of brain parenchyma without any systemic involvement: A case report and review of literature.

Aktan Suzgun M, Everest E, Kucukyurt S, et al.

Neuropathology : official journal of the Japanese Society of Neuropathology 2024; (44(1)):59-67 doi:10.1111/neup.12930.

The clinical spectrum and prognostic factors of Erdheim-Chester disease and mixed Langerhans cell histiocytosis and Erdheim-Chester disease.

Dai JW, Lin H, Chang L, et al.

Annals of hematology 2023; (102(12)):3335-3343 doi:10.1007/s00277-023-05501-1.

Erdheim-Chester disease: misdiagnosed as multiple sclerosis.

Yang J, Imlay-Gillespie L, Dierkes JG, Khoo TK

Practical neurology 2024; (24(2)):144-147 doi:10.1136/pn-2023-003865.

Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAFV600E mutation.

Nikpanah M, Dehghani Firouzabadi F, Farhadi F, et al.

Clinical imaging 2024; (106()):110067 doi:10.1016/j.clinimag.2023.110067.

Dabrafenib and steroids for the treatment of Erdheim-Chester disease with extensive CNS involvement: a case report.

Yuen CA, Bao S, Aung MS, et al.

Personalized medicine 2024; (21(2)):71-78 doi:10.2217/pme-2023-0137.

Cardiovascular manifestations of Erdheim-Chester disease: A narrative review with two cases.

Wong A, Sharma A, Ramcharitar R

Vascular medicine (London, England) 2024; (29(3)):313-319 doi:10.1177/1358863X241228271.

Erdheim-Chester disease as complex clinical presentation and diagnosis: A case report and concise review of literature.

Gagliardo CM, Giammanco A, Vaglio A, et al.

Medicine 2024; (103(17)):e37870 doi:10.1097/MD.0000000000037870.

Patterns and organ treatment response of Erdheim-Chester disease with cardiac involvement.

Miao HL, Chang L, Lin H, et al.

Heart (British Cardiac Society) 2024; (110(13)):899-907 doi:10.1136/heartjnl-2024-323867.

Imaging in Erdheim-Chester Disease.

Aswani Y, Patel A, Zhan X, et al.

Radiographics : a review publication of the Radiological Society of North America, Inc 2024; (44(9)):e240011 doi:10.1148/rg.240011.

Erdheim-Chester disease: An elusive diagnosis in a 50-year-old Ethiopian man presenting with diffuse sclerotic bone lesion.

Usmael SA, Gebrehiywot AA, Bekele AL, et al.

Clinical case reports 2024; (12(9)):e9447 doi:10.1002/ccr3.9447.

BRAF V600E mutation and high expression of PD-L1 in Rosai-Dorfman disease: case report and review of the literature.

Moen FM, Youssef MM, Shukla M, et al.

Journal of hematopathology 2024; (17(4)):183-189 doi:10.1007/s12308-024-00611-9.

Long-term outcomes with single-agent BRAF inhibitor therapy in Erdheim-Chester disease.

Goyal G, Reiner AS, Bossert D, et al.

Blood 2025; (145(18)):2100-2103 doi:10.1182/blood.2024028032.

Cardiovascular degeneration in Erdheim-Chester disease: prevalence, burden, and outcomes.

Tawfiq RK, Spears GM, Young JR, et al.

Blood advances 2025; (9(23)):5988-6000 doi:10.1182/bloodadvances.2025016608.

Erdheim-Chester disease presenting with multisystem involvement: A case report.

Haq M, Bukhari SMRUAN, Basit A, et al.

World journal of clinical cases 2026; (14(2)):115462 doi:10.12998/wjcc.v14.i2.115462.

Perioperative multidisciplinary rescue of a patient with Erdheim - Chester disease and multi-system involvement: a case report.

Wang Z, Yin S, Wang L, Liao B

Frontiers in medicine 2026; (13()):1725570 doi:10.3389/fmed.2026.1725570.

Efficacy and Tolerance of Cladribine for Non-Langerhans Cell Histiocytosis.

Riller Q, Ben Salem T, Emile JF, et al.

European journal of haematology 2026; (117(4)):892-903 doi:10.1111/ejh.70208.

Non-langerhans cell histiocytosis: A growing category of emerging entities.

Delio M, Duarte C, Siegele BJ, et al.

Human pathology 2026; 106177 doi:10.1016/j.humpath.2026.106177.

ERDHEIM-Chester Disease: Two Fatal Cases With Unusual Presentations.

Daniel Andres RV, Álvarez Payares José C, Juliana MP

Clinical case reports 2026; (14(6)):e72798 doi:10.1002/ccr3.72798.

Erdheim-Chester Disease Presenting as Optic Neuritis: A Case Report and Review of the Literature.

Khan RS, Cannon P, Stylianides A

Ophthalmic plastic and reconstructive surgery 2026; doi:10.1097/IOP.0000000000003252.

Case Report: Pediatric Erdheim-Chester disease with cerebral ventricular system infiltration and epiphyseal involvement.

Yan J, Li J, Li Q, et al.

Frontiers in pediatrics 2026; (14()):1903598 doi:10.3389/fped.2026.1903598.