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

Area of Science:

• Histiocytosis and rare neoplasms
• Oncology and hematology
• Molecular diagnostics in rare diseases

Background:

• Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by histiocyte infiltration across multiple organs.
• Clinical presentation of ECD is highly variable, depending on the affected organ systems, including bones, CNS, skin, kidneys, and vasculature, making diagnosis challenging.
• KRAS mutations, while less common than BRAF mutations, are identified in a subset of ECD cases.