title: Metastatic rhabdoid meningioma with BRAF V600E mutation and good response to personalized therapy: case report and review of the literature.
abstract: Rhabdoid meningioma is an aggressive phenotype of meningioma, associated with a poor prognosis. We present a very rare case of high-grade meningioma with rhabdoid features that eventually expressed in a coma state. Comprehensive genomic profiling using a Next Generation Sequencing (NGS) assay revealed three genomic alterations: activating BRAF mutation (V600E), loss of CDKN2A/2B, and APC I1307K. After treatment with BRAF inhibitor (dabrafenib), the child's clinical condition improved progressively. After seven months, an MEK inhibitor was added (trametinib).
authors.affiliation: 1Department of Pediatric Hematology Oncology, Rambam Health Care Campus, Haifa, Israel.
authors.forename: Oz
authors.initials: O
authors.lastname: Mordechai
authors.forename: Sergey
authors.initials: S
authors.lastname: Postovsky
authors.forename: Eugene
authors.initials: E
authors.lastname: Vlodavsky
authors.forename: Ayelet
authors.initials: A
authors.lastname: Eran
authors.forename: Shlomi
authors.initials: S
authors.lastname: Constantini
authors.forename: Eynat
authors.initials: E
authors.lastname: Dotan
authors.forename: Emmanuela
authors.initials: E
authors.lastname: Cagnano
authors.forename: Myriam
authors.initials: M
authors.lastname: Weyl-Ben-Arush
mesh_terms: D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D000970:Antineoplastic Agents / Q000627:therapeutic use*; D002648:Child; D050762:Cyclin-Dependent Kinase Inhibitor p15 / Q000235:genetics; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics; D005260:Female; D020869:Gene Expression Profiling; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007093:Imidazoles / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008577:Meningeal Neoplasms / Q000188:drug therapy / Q000235:genetics*; D008579:Meningioma / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010091:Oximes / Q000627:therapeutic use; D057285:Precision Medicine; D048493:Proto-Oncogene Proteins B-raf / Q000037:antagonists & inhibitors / Q000235:genetics*; D011728:Pyridones / Q000627:therapeutic use; D011744:Pyrimidinones / Q000627:therapeutic use; D018335:Rhabdoid Tumor / Q000188:drug therapy / Q000235:genetics*
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein; D000970:Antineoplastic Agents; D050762:Cyclin-Dependent Kinase Inhibitor p15; D019941:Cyclin-Dependent Kinase Inhibitor p16; D007093:Imidazoles; D010091:Oximes; D011728:Pyridones; D011744:Pyrimidinones; C560077:trametinib; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; C561627:dabrafenib
keywords: BRAF mutation; MEK inhibitor; meningioma; targeted therapy