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

Liquid biopsy of cerebrospinal fluid enabling the detection and therapeutic targeting of the BRAF^V600E mutation in a patient with overlapping Erdheim-Chester/Rosai-Dorfman disease

J Neurol. 2024 Jan;271(1):575-579. doi: 10.1007/s00415-023-11983-w. Epub 2023 Sep 19.

Valentina Pieri^#^{1

2}, Giulia Berzero^#^{1

2}, Rosina Paterra³, Laura Ferré¹, Alessandro Tomelleri^{2

4}, Corrado Campochiaro^{2

4}, Federica Esposito^{1

5}, Teresa Calimeri⁶, Maria Giulia Cangi⁷, Nazario Pio Tenace^{2

7}, Andrés José María Ferreri⁶, Antonella Castellano^{2

8}, Maurizio Barbera⁸, Nicoletta Anzalone^{2

8}, Lorenzo Gabriel Gay⁹, Lorenzo Bello⁹, Maurizio Colecchia^{2

7}, Maurilio Ponzoni^{2

6

7}, Gaetano Finocchiaro¹, Massimo Filippi^{10

11

12

13

14}

¹ Neurology Unit, IRCCS Ospedale San Raffaele, Via Olgettina, 60, 21032, Milan, Italy.
² Vita-Salute San Raffaele University, Milan, Italy.
³ Unit of Neuroncology - Laboratory of Neuro-Oncology Genetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
⁴ Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS Ospedale San Raffaele, Milan, Italy.
⁵ Laboratory of Human Genetics of Neurological Disorders, Institute of Experimental Neurology, Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.
⁶ Lymphoma Unit, IRCCS Ospedale San Raffaele, Milan, Italy.
⁷ Pathology Unit, IRCCS Ospedale San Raffaele, Milan, Italy.
⁸ Neuroradiology Unit and CERMAC, IRCCS Ospedale San Raffaele, Milan, Italy.
⁹ Neurosurgical Oncology Unit, Oncology and Hematology Department, Università degli Studi di Milano, Milan, Italy.
¹⁰ Neurology Unit, IRCCS Ospedale San Raffaele, Via Olgettina, 60, 21032, Milan, Italy. filippi.massimo@hsr.it.
¹¹ Vita-Salute San Raffaele University, Milan, Italy. filippi.massimo@hsr.it.
¹² Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy. filippi.massimo@hsr.it.
¹³ Neurorehabilitation Unit, IRCCS Ospedale San Raffaele, Milan, Italy. filippi.massimo@hsr.it.
¹⁴ Neurophysiology Service, IRCCS Ospedale San Raffaele, Milan, Italy. filippi.massimo@hsr.it.

^# Contributed equally.

No abstract available