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).
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Authors | Oz Mordechai, Sergey Postovsky, Eugene Vlodavsky, Ayelet Eran, Shlomi Constantini, Eynat Dotan, Emmanuela Cagnano, Myriam Weyl-Ben-Arush |
Journal | Pediatric hematology and oncology
(Pediatr Hematol Oncol)
Vol. 32
Issue 3
Pg. 207-11
(Apr 2015)
ISSN: 1521-0669 [Electronic] England |
PMID | 25116269
(Publication Type: Case Reports, Journal Article, Review)
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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
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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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