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Metastatic rhabdoid meningioma with BRAF V600E mutation and good response to personalized therapy: case report and review of the literature.
- Source :
-
Pediatric hematology and oncology [Pediatr Hematol Oncol] 2015 Apr; Vol. 32 (3), pp. 207-11. Date of Electronic Publication: 2014 Aug 12. - Publication Year :
- 2015
-
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).
- Subjects :
- Adenomatous Polyposis Coli Protein genetics
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
Meningioma drug therapy
Oximes therapeutic use
Precision Medicine
Proto-Oncogene Proteins B-raf antagonists & inhibitors
Pyridones therapeutic use
Pyrimidinones therapeutic use
Rhabdoid Tumor drug therapy
Antineoplastic Agents therapeutic use
Meningeal Neoplasms genetics
Meningioma genetics
Mutation genetics
Proto-Oncogene Proteins B-raf genetics
Rhabdoid Tumor genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1521-0669
- Volume :
- 32
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Pediatric hematology and oncology
- Publication Type :
- Academic Journal
- Accession number :
- 25116269
- Full Text :
- https://doi.org/10.3109/08880018.2014.936058