Article
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Neuro-oncology - 18 Jun 2018
Louvrier Camille, Pasmant Eric, Briand-Suleau Audrey, Cohen Joëlle, Nitschké Patrick, Nectoux Juliette, Orhant Lucie, Zordan Cécile, Goizet Cyril, Goutagny Stéphane, Lallemand Dominique, Vidaud Michel, Vidaud Dominique, Kalamarides Michel, Parfait Béatrice
Abstract excerpt
Background: Clinical overlap between neurofibromatosis type 2 (NF2), schwannomatosis, and meningiomatosis can make clinical diagnosis difficult. Hence, molecular investigation of germline and tumor tissues may improve the diagnosis. Methods: We present the targeted next-generation sequencing (NGS) of NF2, SMARCB1, LZTR1, SMARCE1, and SUFU tumor suppressor genes, using an amplicon-based approach. We analyzed blood...
Topics
- Biomarkers, Tumor
- Chromosomal Proteins, Non-Histone
- DNA-Binding Proteins
- Diagnosis, Differential
- Follow-Up Studies
- Genes, Tumor Suppressor
- High-Throughput Nucleotide Sequencing
- Humans