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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).
AuthorsOz Mordechai, Sergey Postovsky, Eugene Vlodavsky, Ayelet Eran, Shlomi Constantini, Eynat Dotan, Emmanuela Cagnano, Myriam Weyl-Ben-Arush
JournalPediatric hematology and oncology (Pediatr Hematol Oncol) Vol. 32 Issue 3 Pg. 207-11 (Apr 2015) ISSN: 1521-0669 [Electronic] England
PMID25116269 (Publication Type: Case Reports, Journal Article, Review)
Chemical References
  • APC protein, human
  • Adenomatous Polyposis Coli Protein
  • Antineoplastic Agents
  • Cyclin-Dependent Kinase Inhibitor p15
  • Cyclin-Dependent Kinase Inhibitor p16
  • Imidazoles
  • Oximes
  • Pyridones
  • Pyrimidinones
  • trametinib
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • dabrafenib
Topics
  • Adenomatous Polyposis Coli Protein (genetics)
  • Antineoplastic Agents (therapeutic use)
  • Child
  • Cyclin-Dependent Kinase Inhibitor p15 (genetics)
  • Cyclin-Dependent Kinase Inhibitor p16 (genetics)
  • Female
  • Gene Expression Profiling
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Imidazoles (therapeutic use)
  • Magnetic Resonance Imaging
  • Meningeal Neoplasms (drug therapy, genetics)
  • Meningioma (drug therapy, genetics)
  • Mutation (genetics)
  • Oximes (therapeutic use)
  • Precision Medicine
  • Proto-Oncogene Proteins B-raf (antagonists & inhibitors, genetics)
  • Pyridones (therapeutic use)
  • Pyrimidinones (therapeutic use)
  • Rhabdoid Tumor (drug therapy, genetics)

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