TY - JOUR
T1 - Metastatic rhabdoid meningioma with BRAF V600E mutation and good response to personalized therapy
T2 - Case report and review of the literature
AU - Mordechai, Oz
AU - Postovsky, Sergey
AU - Vlodavsky, Eugene
AU - Eran, Ayelet
AU - Constantini, Shlomi
AU - Dotan, Eynat
AU - Cagnano, Emmanuela
AU - Weyl-Ben-Arush, Myriam
N1 - Publisher Copyright:
© 2015 Informa Healthcare USA, Inc.
PY - 2015/4/3
Y1 - 2015/4/3
N2 - 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).
AB - 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).
KW - BRAF mutation
KW - MEK inhibitor
KW - Meningioma
KW - Targeted therapy
UR - http://www.scopus.com/inward/record.url?scp=84928159574&partnerID=8YFLogxK
U2 - 10.3109/08880018.2014.936058
DO - 10.3109/08880018.2014.936058
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C2 - 25116269
AN - SCOPUS:84928159574
SN - 0888-0018
VL - 32
SP - 207
EP - 211
JO - Pediatric Hematology and Oncology
JF - Pediatric Hematology and Oncology
IS - 3
ER -
