ERDHEIM CHESTER DISEASE: ROLE OF 18FDG PET/CT AND MORPHOLOGICAL IMAGING
Abstract
Diagnosis of ECD is challenging and imaging plays a key role in diagnosis. In recent years, 18FDG PET/CT has emerged from imaging armamentarium comprised of other morphological imaging modalities. It is due to its hybrid and whole-body coverage, guiding the most 18FDG avid site for biopsy, strong correlation with BRF-V600E mutation, treatment selection and metabolic response assessment. In recent years, diagnosis of ECD is on rise and till 2024, more than 1500 cases of ECD have been reported in literature. Early diagnosis of ECD is challenging due to its broad and nonspecific clinical presentation, low prevalence, inconsistent pathological findings, and lack of clinician awareness of the disease.
The purpose of this mini review related to a recently diagnosed case of ECD is to provide clinicians reading 18FDG PET/CT with a resource to facilitate diagnosis of ECD and treatment response assessment using follow-up studies. Median survival from the initial onset of ECD is about 10 years, in most cases being progressive and fatal within a few years.
References
References
Shi X, Sun G, Li T, Xu M, Liu Y, Wang Z, et al. Erdheim Chester disease of multisystem involvement with delayed diagnosis: A case report and literature review. Exp Ther Med. 2024 Feb 22;27(4):159. doi: 10.3892/etm.2024.12447. PMID: 38476885; PMCID: PMC10928972.
Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al.. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36:1703–1719. doi: 10.1038/s41375-022-01613-1 [PMC free article] [PubMed] [CrossRef] [Google Scholar] [Ref list]
Cui G, Liu D, Li W, Xiao Fu, Youguang Liang, Yuhang Li, et al. A meta-analysis of the association between BRAF mutation and nonsmall cell lung cancer. Medicine (Baltimore). 2017;96: e6552.
Haroche J, Charlotte F, Arnaud L, Deimling A, Zofia HR, Hervier B, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120:2700–2703.
Diamond EL, Dagna L, Hyman DM, Cavalli G, Janku F, Estrada-Veraset J, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124:483–492.
Haroche J, Arnaud L, Cohen-Aubart F, Hervier B, Charlotte F, Emileet JF, et al. Erdheim-Chester disease. Curr Rheumatol Rep. 2014;16:412
Jason R. Young, Geoffrey B. Johnson, Robert C. Murphy, Ronald S. Go, Stephen M. Broski. 18F-FDG PET/CT in Erdheim–Chester Disease: Imaging Findings and Potential BRAF Mutation Biomarker. J Nucl Med 2018; 59:774-779. DOI: 10.2967/jnumed.117.200741
White TV, Silvester NC, Otero HJ. Non-sclerotic bone involvement in ErdheimChester: PET/CT and MRI findings in a 15-year-old boy. Pediatr Radiol. 2016;46:1345–1349.
Ganiyusufoğlu AK, Gökşenoğlu G, Tunç B, Paker N. Erdheim-Chester Disease With Renal Involvement: A Case Report. Arch Rheumatol. 2017 Feb 1;32(2):167-170. doi: 10.5606/ArchRheumatol.2017.5953. PMID: 30375562; PMCID: PMC6190995.
Cohen Aubart F, Idbaih A, Galanaud D, Law-Ye B, Emile JF, Charlotte F, Donadieu J, Maksud P, Seilhean D, Amoura Z, Hoang-Xuan K, Haroche J. Central nervous system involvement in Erdheim-Chester disease: An observational cohort study. Neurology. 2020 Nov 17;95(20):e2746-e2754. doi: 10.1212/WNL.0000000000010748. Epub 2020 Sep 4. PMID: 32887776.
Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood. 2020 Apr 16;135(16):1311-1318. doi: 10.1182/blood.2019002766. PMID: 32107533.
Drouillard M, Trunet S, Hervochon R, Azoulay LD, Amoura Z, CohenAubart F, et al. Sinonasal and ear manifestations of Erdheim-Chester disease. Br J Haematol. 2023;203:194–201.
Ponsiglione, A, Puglia, M, Barbuto, L, Solla, R, Altiero, M, Lubrano, V, Imbriaco, M. Cardiac involvement in Erdheim- Chester disease: MRI findings and literature revision. Acta Radiol Open. 2015;4:2058460115592273. doi: 10.1177/2058460115592273
Quinaglia-Silva T, Medina F, Ramos CD, Coelho-Filho OR. Cardiac Involvement in Erdheim-Chester Disease. Circ Cardiovasc Imaging. 2018 Dec;11(12):e008531. doi: 10.1161/CIRCIMAGING.118.008531. PMID: 30562109.
Haroche J, Cluzel P, Toledano D, Montalescot G, Touitou D, Grenier PA, et al. Images in cardiovascular medicine: cardiac involvement in Erdheim-Chester disease—magnetic resonance and computed tomographic scan imaging in a monocentric series of 37 patients. Circulation. 2009;119:e597–e598.
Bösmüller H, Nann D, Horger M, Fend F. Erdheim-Chester disease and RosaiDorfman disease: pathological, radiological and clinical features of adult nonLangerhans cell histiocytosis [in German]. Pathologe. 2015;36:458–466
Swerdlow SH, Campo E, Pileri SA, Harris NE, Stein H, Siebertet R, et al. The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood. 2016; 127:2375–2390
