Multisystem Erdheim-Chester disease presenting with pericardial effusion confirmed by the effusion cytology specimen

Cardiovasc Pathol. 2024 May-Jun:70:107625. doi: 10.1016/j.carpath.2024.107625. Epub 2024 Feb 28.

Abstract

Erdheim-Chester disease (ECD) is a rare histiocytosis characterized by the foamy CD68+CD1a- histiocytes infiltrating multiple organs and tissues. ECD might be asymptomatic or present with variable manifestations. The diagnosis of ECD requires characteristic radiological findings and pathological features. Herein, we described a 52-year-old female patient who was admitted to our hospital for recurrent pericardial effusion for two months. She has a medical history of papillary thyroid carcinoma (PTC) and underwent a total thyroidectomy two years before admission. The radiological findings suggested a potential diagnosis of ECD. Cytological analysis of the effusion cytology specimen revealed CD68+CD1a- histiocytes, confirming the ECD diagnosis. The BRAF V600E mutation was identified in the histiocytes, prompting the administration of vemurafenib, a BRAF inhibitor. After two months of standard-dose vemurafenib treatment, the disease was well controlled with pericardial effusion regression.

Keywords: BRAF V600E mutation; Erdheim-Chester Disease (ECD); Pericardial effusion; Vemurafenib.

Publication types

  • Case Reports

MeSH terms

  • Erdheim-Chester Disease* / complications
  • Erdheim-Chester Disease* / diagnosis
  • Erdheim-Chester Disease* / drug therapy
  • Erdheim-Chester Disease* / genetics
  • Erdheim-Chester Disease* / pathology
  • Female
  • Histiocytes / pathology
  • Humans
  • Middle Aged
  • Mutation
  • Pericardial Effusion* / etiology
  • Pericardial Effusion* / pathology
  • Predictive Value of Tests
  • Protein Kinase Inhibitors / therapeutic use
  • Proto-Oncogene Proteins B-raf* / genetics
  • Treatment Outcome
  • Vemurafenib* / therapeutic use

Substances

  • BRAF protein, human
  • Protein Kinase Inhibitors
  • Proto-Oncogene Proteins B-raf
  • Vemurafenib