{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T00:14:51Z","timestamp":1758586491442,"version":"3.44.0"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T00:00:00Z","timestamp":1758499200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>We present two cases of Erdheim-Chester disease (ECD) in 66-year-old female patients, highlighting their distinct clinical manifestations and diagnostic challenges. The first patient presented with chest tightness and dyspnea, revealing pericardial effusion and hypermetabolic foci in multiple organs on imaging. Histopathological analysis indicated abundant foamy histiocytes, confirming ECD. Significant reduction in metabolic lesions following cladribine treatment. The second patient developed subcutaneous nodules post-hysterectomy, later diagnosed with mixed lobular panniculitis. Subsequent biopsies revealed similar histiocyte profiles, leading to ECD diagnosis. She responded well to an immunomodulatory regimen. Notably, whole-exome sequencing detected a <jats:italic>MAP2K1<\/jats:italic> mutation in the second case, \u200bwhich lacked\u200b the BRAF V600E mutation commonly associated with ECD. These cases underscore the importance of thorough diagnostic evaluation and highlight the variability in clinical presentation and genetic alterations of ECD, contributing to improved recognition and management strategies for this rare condition.<\/jats:p>","DOI":"10.3389\/fonc.2025.1611907","type":"journal-article","created":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T04:12:52Z","timestamp":1758514372000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Erdheim-Chester disease: unveiling hidden manifestations through two case reports"],"prefix":"10.3389","volume":"15","author":[{"given":"Guoxia","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoqing","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Fang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuxia","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhua","family":"Duan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Cui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,9,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019003507","article-title":"Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era","volume":"135","author":"Goyal","year":"2020","journal-title":"Blood"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019002766","article-title":"Erdheim-Chester disease","volume":"135","author":"Haroche","year":"2020","journal-title":"Blood"},{"key":"B3","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1007\/s11926-019-0865-2","article-title":"Erdheim-Chester disease: a concise review","volume":"21","author":"Papo","year":"2019","journal-title":"Curr Rheumatol Rep"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.crad.2025.106873","article-title":"Decoding Erdheim-Chester disease: a pictorial essay of the radiologic and pathologic findings, and its main differential diagnoses","volume":"85","author":"de Oliveira Santo","year":"2025","journal-title":"Clin Radiol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2017.160","article-title":"The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort","volume":"31","author":"Ozkaya","year":"2018","journal-title":"Mod Pathol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1186\/s12876-022-02378-8","article-title":"Pancreatic involvement in Erdheim-Chester disease: a case report and review of the literature","volume":"22","author":"Dai","year":"2022","journal-title":"BMC Gastroenterol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/j.radcr.2024.02.009","article-title":"Erdheim-Chester disease with tendon and muscle involvement: Reports of a rare presentation","volume":"19","author":"Golagha","year":"2024","journal-title":"Radiol Case Rep"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1007\/s12308-024-00611-9","article-title":"BRAF V600E mutation and high expression of PD-L1 in Rosai-Dorfman disease: case report and review of the literature","volume":"17","author":"Moen","year":"2024","journal-title":"J Hematop"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1210\/jcemcr\/luad014","article-title":"Erdheim-Chester disease with BRAF V600E mutation and central diabetes insipidus successfully treated with glucocorticoid","volume":"1","author":"Imaizumi","year":"2023","journal-title":"JCEM Case Rep"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-016-2606-1","article-title":"Evaluation of clinicopathologic characteristics and the BRAF V600E mutation in Erdheim-Chester disease among Chinese adults","volume":"95","author":"Cao","year":"2016","journal-title":"Ann Hematol"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1177\/2050313X19845217","article-title":"Case of Erdheim-Chester presenting with xanthelasma-like eruption and osteolytic bone lesions: A case report","volume":"7","author":"Chinchilla","year":"2019","journal-title":"SAGE Open Med Case Rep"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.17949","article-title":"Mimics of Erdheim-Chester disease","volume":"196","author":"Abeykoon","year":"2022","journal-title":"Br J Haematol"},{"key":"B13","doi-asserted-by":"publisher","first-page":"798","DOI":"10.1007\/s12185-022-03393-x","article-title":"Rare presentation of multiple thromboses in Erdheim-Chester disease: a case-based review","volume":"116","author":"Liu","year":"2022","journal-title":"Int J Hematol"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2022.835076","article-title":"Paediatric Erdheim-Chester disease in the lateral ventricle: A case report and review of the literature","volume":"12","author":"Ma","year":"2022","journal-title":"Front Oncol"},{"key":"B15","doi-asserted-by":"publisher","first-page":"e11808","DOI":"10.7759\/cureus.11808","article-title":"Concurrent langerhans cell histiocytosis and autoimmune hepatitis: A case and review of the literature","volume":"12","author":"Ahmed","year":"2020","journal-title":"Cureus"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1002\/dc.22957","article-title":"Erdheim-Chester disease with prominent pericardial effusion: cytologic findings and review of the literature","volume":"42","author":"Alexiev","year":"2014","journal-title":"Diagn Cytopathol"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.5021\/ad.2019.31.2.209","article-title":"Symmetrical giant facial plaque-type juvenile xanthogranuloma: A case report with a successful response to fractional laser treatment","volume":"31","author":"Lee","year":"2019","journal-title":"Ann Dermatol"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1302\/2058-5241.3.170047","article-title":"Rare diseases of bone: Erdheim-Chester and Rosai-Dorfman non-Langerhans cell histiocytoses","volume":"3","author":"Mavrogenis","year":"2018","journal-title":"EFORT Open Rev"},{"key":"B19","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1136\/jclinpath-2020-206733","article-title":"Rosai-Dorfman disease: an overview","volume":"73","author":"Bruce-Brand","year":"2020","journal-title":"J Clin Pathol"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1007\/s00292-015-0057-4","article-title":"Erdheim-Chester- und Rosai-Dorfman-Erkrankung: Klinisch-radiologisch-pathologische Diagnostik von Non-Langerhans-Zell-Histiozytosen des Erwachsenenalters [Erdheim-Chester disease and Rosai-Dorfman disease: Pathological, radiological and clinical features of adult non-Langerhans cell histiocytosis","volume":"36","author":"B\u00f6sm\u00fcller","year":"2015","journal-title":"Pathologe"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2018-03-839753","article-title":"Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease","volume":"131","author":"Abla","year":"2018","journal-title":"Blood"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A7832","article-title":"Erdheim-Chester disease","volume":"44","author":"Benson","year":"2023","journal-title":"AJNR Am J Neuroradiol"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1016\/j.mayocp.2019.02.023","article-title":"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","volume":"94","author":"Goyal","year":"2019","journal-title":"Mayo Clin Proc"}],"container-title":["Frontiers in Oncology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2025.1611907\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T04:12:56Z","timestamp":1758514376000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2025.1611907\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,22]]},"references-count":23,"alternative-id":["10.3389\/fonc.2025.1611907"],"URL":"https:\/\/doi.org\/10.3389\/fonc.2025.1611907","relation":{},"ISSN":["2234-943X"],"issn-type":[{"value":"2234-943X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,22]]},"article-number":"1611907"}}