Evaluation of clinicopathologic characteristics and the BRAF V600E mutation in Erdheim-Chester disease among Chinese adults

Erdheim-Chester disease (ECD) is a rare form of histiocytosis with a broad, non-specific clinical spectrum. Here, we retrospectively evaluated the clinical and pathologic characteristics, presence of the BRAF V600E mutation, treatment options, and outcomes of Chinese patients diagnosed with ECD at o...

Full description

Saved in:
Bibliographic Details
Published in:Annals of hematology 2016-04, Vol.95 (5), p.745-750
Main Authors: Cao, Xin-xin, Sun, Jian, Li, Jian, Zhong, Ding-rong, Niu, Na, Duan, Ming-hui, Liang, Zhi-yong, Zhou, Dao-bin
Format: Article
Language:English
Subjects:
Adult
Asian Continental Ancestry Group - genetics
Bone and Bones - pathology
Cardiovascular System - pathology
Central Nervous System - pathology
China - epidemiology
Cytokines - blood
Diagnosis, Differential
Erdheim-Chester Disease - diagnosis
Erdheim-Chester Disease - drug therapy
Erdheim-Chester Disease - ethnology
Erdheim-Chester Disease - genetics
Erdheim-Chester Disease - pathology
Female
Fibrinogen - analysis
Follow-Up Studies
Hematology
Histiocytosis, Sinus - diagnosis
Humans
Interferon-alpha - therapeutic use
Kidney - pathology
Male
Medicine
Medicine & Public Health
Middle Aged
Oncology
Original Article
Phenotype
Prevalence
Proto-Oncogene Proteins B-raf - genetics
Retrospective Studies
Survival Analysis
Thrombocytosis - etiology
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Erdheim-Chester disease (ECD) is a rare form of histiocytosis with a broad, non-specific clinical spectrum. Here, we retrospectively evaluated the clinical and pathologic characteristics, presence of the BRAF V600E mutation, treatment options, and outcomes of Chinese patients diagnosed with ECD at our center. Patients diagnosed with ECD between January 2010 and April 2015 at Peking Union Medical College Hospital were included for study. We evaluated baseline characteristics, reviewed histological material, and tested for the presence of the BRAF V600E mutation using immunohistochemistry and polymerase chain reaction (PCR). Sixteen patients were diagnosed with ECD. Median disease duration (from the first symptom to diagnosis) was 22.5 months (range, 3–100 months). The main sites of involvement included bone (93.8 %), cardiovascular region (43.8 %), skin (31.3 %), central nervous system (25 %), and “hairy kidney” (25 %). The BRAF V600E mutation was detected in 68.8 % patients using PCR and 50 % patients with immunohistochemistry. Three patients could not be diagnosed using histological analysis owing to similarities with Rosai-Dorfman disease, and diagnosis in these cases was confirmed based on the BRAF V600E mutation status. Ten patients (62.5 %) received IFN-α as first-line treatment. Thirteen patients (81.3 %) were still alive at median follow-up of 14.5 months. ECD remains a largely overlooked disease, and increased recognition by clinicians and pathologists is necessary for effective diagnosis and treatment. The presence of the BRAF V600E mutation may facilitate discrimination of ECD from other non-Langerhans cell histiocytoses.
ISSN:0939-5555
1432-0584
DOI:10.1007/s00277-016-2606-1