Brief CommunicationCirculating tumor DNA is present in the most aggressive meningiomas

Thomas Graillon (1, 2, 3) , Catherine Roche (4) , Noémie Basset , Gregory Mougel (1, 4, 2) , Mikael Meyer (5) , Kaissar Farah (5) , Sébastien Boissonneau (6) , Stéphane Fuentes (3) , Emeline Tabouret (6, 5) , Romain Appay (6) , Dominique Figarella-Branger (6) , Olivier Chinot (6) , Henry Dufour (1, 3) , Pauline Romanet (1, 2, 4) , Anne A. Barlier (1, 2, 4)

1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
2 MarMaRa - Institut Marseille Maladies Rares
3 Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM]
4 Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM]
5 TIMONE - Hôpital de la Timone [CHU - APHM]
6 INP - Institut de neurophysiopathologie

Recent discoveries of multiple driver mutations open promising perspectives for targeted therapies in meningioma. Nevertheless, iterative recurrences of most aggressive meningiomas as extended skull base meningiomas are not systematically operated and histologically documented. This suggests the interest and the relevance of liquid biopsy in meningiomas. In a proof-of-concept study, we detected the NF2 mutation in 2 of 6 cell-free plasma DNAs and 1 of 1 cerebrospinal fluid (CSF) from high-grade recurrent cases, suggesting that identification of the driver mutation in blood and CSF is today feasible. Liquid biopsy could be an interesting tool to adapt the targeted therapy in meningiomas in the near future.

Domaines: Cancer; Génomique, Transcriptomique et Protéomique [q-bio.GN]; Neurobiologie

Thomas Graillon, Catherine Roche, Noémie Basset, Gregory Mougel, Mikael Meyer, et al.. Brief CommunicationCirculating tumor DNA is present in the most aggressive meningiomas. Neuro-Oncology Advances, 2020, 2 (1), pp.vdaa068. ⟨10.1093/noajnl/vdaa068⟩. ⟨hal-03692445⟩