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October 17, 2025CureusOpen Access

Erdheim-Chester Disease Masquerading as Leukemia: Outwitting the Need for Transplant

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Authors

WKW. A. KettererJSJoshua ScottZGZachary Gillooly

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Overview

Case analysis highlights KRAS mutation in a patient with ECD, suggesting a need for targeted treatment strategies.

Key Points

  • The patient demonstrated symptoms consistent with both erdheim-chester disease and leukemia, indicating diagnostic complexities.
  • Bone marrow biopsy revealed a kras mutation, initially raising concerns for chronic myelomonocytic leukemia.
  • A skin biopsy confirmed foamy histiocytic infiltration, ultimately redirecting diagnosis towards erdheim-chester disease.
  • Management utilized mek inhibition, aligning with recommendations from the 2019 ECD Medical Symposium.

Cite This Study

Ketterer et al. (2025) studied this question.

synapsesocial.com/papers/68f19f1ade32064e504ddac3https://doi.org/10.7759/cureus.94636
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Erdheim-Chester Disease with multisystem involvement: A diagnostic dilemma mimicking autoimmune and inflammatory diseases: Case report and a brief literature review2025
  2. 2Erdheim-Chester Disease (ECD) is a Rare Histiocytic Neoplasm of Non-Langerhans Cell Histiocytosis2024 · 1 citations
  3. 3Erdheim-Chester Disease Mimicking a Malignant Pituitary Stalk Tumor With Ventricular Dissemination: A Case Report2025
  4. 4Case Report: Relapsing pleural effusions and coated aorta revealing Erdheim–Chester disease2025
  5. 5Clinical Images: Erdheim–Chester disease presenting with fever, enlarged lymph nodes, and monoallelic <scp>BRAF</scp> ( <scp>V600E</scp> ) mutation2026