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Annals of Hematology

, Volume 95, Issue 5, pp 745–750 | Cite as

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

  • Xin-xin Cao
  • Jian Sun
  • Jian Li
  • Ding-rong Zhong
  • Na Niu
  • Ming-hui Duan
  • Zhi-yong Liang
  • Dao-bin Zhou
Original Article

Abstract

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.

Keywords

Erdheim-Chester disease BRAF V600E mutation Histiocytosis 

Notes

Compliance with ethical standards

Informed consent was obtained from all patients and the study was approved by Peking Union Medical College Hospital Ethics Committee. The study has been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

Conflict of interest

The authors declare that they have no competing interests.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Xin-xin Cao
    • 1
  • Jian Sun
    • 2
  • Jian Li
    • 1
  • Ding-rong Zhong
    • 2
  • Na Niu
    • 3
  • Ming-hui Duan
    • 1
  • Zhi-yong Liang
    • 2
  • Dao-bin Zhou
    • 1
  1. 1.Department of Hematology, Peking Union Medical College HospitalChinese Academy of Medical Sciences & Peking Union Medical CollegeBeijingChina
  2. 2.Department of Pathology, Peking Union Medical College HospitalChinese Academy of Medical Sciences & Peking Union Medical CollegeBeijingChina
  3. 3.Department of Nuclear Medicine, Peking Union Medical College HospitalChinese Academy of Medical Sciences & Peking Union Medical CollegeBeijingChina

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