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Clinico-Pathologic Features of Adult Erdheim-Chester Disease in South Korea: A Multicenter Retrospective Study (KCSG
Ji Yun Lee1, Heounjeong Go2, Myung-Won Lee3
1Division of Hematology-Oncology, Department of Internal Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.
Purpose:
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by heterogeneous multisystem manifestations and frequent MAPK-ERK pathway alterations. Data on the clinico-pathologic features and real-world outcomes of adult ECD in South Korea are limited.
Materials And Methods:
We conducted a retrospective multicenter cohort study of adult patients (≥18 years) with ECD at seven Korean Cancer Study Group (KCSG)-affiliated institutions between October 2008 and June 2024. Clinical and pathologic features, BRAF V600E mutation status, treatment patterns, and overall survival (OS) were analyzed using the Kaplan-Meier method.
Results:
Twenty-two patients were included (median age 57 years [IQR 45-64]; 50% male). Organ involvement was heterogeneous: bone (54.5%), retroperitoneal/renal (31.8%), central nervous system (27.3%), cardiovascular (27.3%), hypothalamic-pituitary axis (27.3%), pulmonary (18.2%), and skin (13.6%); multisystem disease (≥2 organs) was present in 40.9%. BRAF V600E was positive in 11 of 19 tested patients (57.9%). Systemic treatment was initiated in 18 patients (81.8%); interferon-α-based regimens were the most common first-line approach (50.0%). Among 16 evaluable patients, the disease control rate (CR/PR/SD) was 87.5%. With a median follow-up of 4.6 years (IQR 1.3-6.5), 2- and 5-year OS rates were 90.0% and 74.3%, respectively.
Conclusion:
Korean adult patients with ECD demonstrate heterogeneous organ involvement and frequent BRAF V600E positivity. Real-world treatment remains dominated by interferon-α-based approaches, underscoring the need for standardized molecular testing and improved access to targeted therapy.
