Multisystem Erdheim-Chester disease presenting with pericardial effusion confirmed by the effusion cytology specimen.
Cardiovasc Pathol
; 70: 107625, 2024.
Article
en En
| MEDLINE
| ID: mdl-38417471
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Derrame Pericárdico
/
Enfermedad de Erdheim-Chester
/
Proteínas Proto-Oncogénicas B-raf
/
Vemurafenib
Límite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Cardiovasc Pathol
/
Cardiovasc. pathol
/
Cardiovascular pathology
Asunto de la revista:
ANGIOLOGIA
/
CARDIOLOGIA
/
PATOLOGIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
China