학술논문
Liquid biopsy of cerebrospinal fluid enabling the detection and therapeutic targeting of the BRAFV600E mutation in a patient with overlapping Erdheim-Chester/Rosai-Dorfman disease.
Document Type
Article
Author
Pieri, Valentina; Berzero, Giulia; Paterra, Rosina; Ferré, Laura; Tomelleri, Alessandro; Campochiaro, Corrado; Esposito, Federica; Calimeri, Teresa; Cangi, Maria Giulia; Tenace, Nazario Pio; Ferreri, Andrés José María; Castellano, Antonella; Barbera, Maurizio; Anzalone, Nicoletta; Gay, Lorenzo Gabriel; Bello, Lorenzo; Colecchia, Maurizio; Ponzoni, Maurilio; Finocchiaro, Gaetano; Filippi, Massimo
Source
Subject
*ERDHEIM-Chester disease
*CEREBROSPINAL fluid
*DRUG target
*GENETIC mutation
*
*
*
Language
ISSN
0340-5354
Abstract
This article discusses the use of liquid biopsy of cerebrospinal fluid (CSF) to detect and target the BRAFV600E mutation in a patient with overlapping Erdheim-Chester Disease (ECD) and Rosai-Dorfman Disease (RDD). ECD and RDD are rare histiocytic disorders driven by genetic alterations in the MAP kinase pathway. The patient in this case had CNS involvement, and the liquid biopsy of CSF and plasma was crucial in driving the diagnostic work-up and identifying the BRAFV600E mutation. This case highlights the potential value of liquid biopsies in diagnosing and targeting therapeutic interventions in patients with histiocytoses and CNS involvement. [Extracted from the article]