Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

201866 citationsJournal Articlebronze Open Access

Authors

Camille Louvrier · Sorbonne Université

Éric Pasmant · Délégation Paris 5

Audrey Briand‐Suleau · Délégation Paris 5

Joëlle Cohen · Hôpital Cochin

Patrick Nitschké · Délégation Paris 5

Juliette Nectoux · Hôpital Cochin

Lucie Orhant ·

Abstract

Simultaneous investigation of NF2, SMARCB1, LZTR1, and SMARCE1 is a key element in the differential diagnosis of NF2, schwannomatosis, and meningiomatosis. The targeted NGS strategy is suitable for the identification of NF2 mosaicism in blood and for the investigation of tumors from these patients.

Topics & Keywords

Neurofibromatosis and Schwannoma Cases Neuroblastoma Research and Treatments Glioma Diagnosis and Treatment

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Neuro-Oncology

Volume 20, Issue 7, pp. 917-929

DOI: 10.1093/neuonc/noy009

Field-Weighted Citation Impact: 4.59