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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

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Data availability

All data needed to evaluate the conclusions in the paper are present in the paper and/or in the Supplementary Material. Additional data related to this paper may be requested from the corresponding author, upon reasonable request by qualified academic investigators.

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Funding

This study was partly supported by funds from the Italian Ministry of Health (RCR-2021-23671213; RCR_2021_ACC and RC-2022-2023 to RP, Fondazione IRCCS Istituto Neurologico Carlo Besta).

Author information

Author notes

  1. Valentina Pieri and Giulia Berzero contributed equally to this work.

Authors and Affiliations

  1. Neurology Unit, IRCCS Ospedale San Raffaele, Via Olgettina, 60, 21032, Milan, Italy

    Valentina Pieri, Giulia Berzero, Laura Ferré, Federica Esposito, Gaetano Finocchiaro & Massimo Filippi

  2. Vita-Salute San Raffaele University, Milan, Italy

    Valentina Pieri, Giulia Berzero, Alessandro Tomelleri, Corrado Campochiaro, Nazario Pio Tenace, Antonella Castellano, Nicoletta Anzalone, Maurizio Colecchia, Maurilio Ponzoni & Massimo Filippi

  3. Unit of Neuroncology - Laboratory of Neuro-Oncology Genetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

    Rosina Paterra

  4. Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS Ospedale San Raffaele, Milan, Italy

    Alessandro Tomelleri & Corrado Campochiaro

  5. Laboratory of Human Genetics of Neurological Disorders, Institute of Experimental Neurology, Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy

    Federica Esposito

  6. Lymphoma Unit, IRCCS Ospedale San Raffaele, Milan, Italy

    Teresa Calimeri, Andrés José María Ferreri & Maurilio Ponzoni

  7. Pathology Unit, IRCCS Ospedale San Raffaele, Milan, Italy

    Maria Giulia Cangi, Nazario Pio Tenace, Maurizio Colecchia & Maurilio Ponzoni

  8. Neuroradiology Unit and CERMAC, IRCCS Ospedale San Raffaele, Milan, Italy

    Antonella Castellano, Maurizio Barbera & Nicoletta Anzalone

  9. Neurosurgical Oncology Unit, Oncology and Hematology Department, Università degli Studi di Milano, Milan, Italy

    Lorenzo Gabriel Gay & Lorenzo Bello

  10. Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy

    Massimo Filippi

  11. Neurorehabilitation Unit, IRCCS Ospedale San Raffaele, Milan, Italy

    Massimo Filippi

  12. Neurophysiology Service, IRCCS Ospedale San Raffaele, Milan, Italy

    Massimo Filippi

Authors
  1. Valentina Pieri
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  2. Giulia Berzero
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  3. Rosina Paterra
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  4. Laura Ferré
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  5. Alessandro Tomelleri
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  6. Corrado Campochiaro
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  7. Federica Esposito
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  8. Teresa Calimeri
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  9. Maria Giulia Cangi
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  10. Nazario Pio Tenace
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  11. Andrés José María Ferreri
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  12. Antonella Castellano
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  13. Maurizio Barbera
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  14. Nicoletta Anzalone
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  15. Lorenzo Gabriel Gay
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  16. Lorenzo Bello
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  17. Maurizio Colecchia
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  18. Maurilio Ponzoni
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  19. Gaetano Finocchiaro
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  20. Massimo Filippi
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Contributions

VP, GB, GF, MF: study concept and design; VP, GB, RP, GF: major role in the acquisition of data; VP, GB, RP, LF, AT, CC, FE, TC, MGC, NPT, AJMF, AC, MB, NA, LGG, LB, MC, GF, MF; analysis and interpretation of the data; VP, GB: drafting the manuscript; VP, GB, RP, LF, AT, CC, FE, TC, MGC, NPT, AJMF, AC, MB, NA, LGG, LB, MC, MP, GF, MF: revision of the manuscript for intellectual content.

Corresponding author

Correspondence to Massimo Filippi.

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Conflicts of interest

The authors report no competing interests relevant to the manuscript.

Ethical standards

Biological studies were performed upon the acquisition of patient’s written informed consent within an ongoing study approved by the Institutional Ethics Committee, in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

Supplementary Information

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Pieri, V., Berzero, G., Paterra, R. et al. 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. J Neurol 271, 575–579 (2024). https://doi.org/10.1007/s00415-023-11983-w

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  • DOI: https://doi.org/10.1007/s00415-023-11983-w

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