Metastatic Rhabdoid Meningioma with BRAF V600E Mutation and Good Response to Personalized Therapy: Case Report and Review of the Literature

被引：25

作者：

Mordechai, Oz ^{[1
]}

Postovsky, Sergey ^{[1
,2
]}

Vlodavsky, Eugene ^{[2
,3
]}

Eran, Ayelet ^{[4
]}

Constantini, Shlomi ^{[5
]}

Dotan, Eynat ^{[6
]}

Cagnano, Emmanuela ^{[7
]}

Weyl-Ben-Arush, Myriam ^{[1
,2
]}

机构：

[1] Rambam Hlth Care Campus, Dept Pediat Hematol Oncol, IL-31096 Haifa, Israel

[2] Technion Israel Inst Technol, Rappaport Fac Med, Haifa, Israel

[3] Rambam Hlth Care Campus, Inst Pathol, IL-31096 Haifa, Israel

[4] Rambam Hlth Care Campus, Dept Radiol, IL-31096 Haifa, Israel

[5] Sourasky Med Ctr, Pediat Neurosurg Unit, Tel Aviv, Israel

[6] Sourasky Med Ctr, Dept Oncol, Tel Aviv, Israel

[7] Sourasky Med Ctr, Dept Pathol, Tel Aviv, Israel

来源：

PEDIATRIC HEMATOLOGY AND ONCOLOGY | 2015年 / 32卷 / 03期

关键词：

BRAF mutation; MEK inhibitor; meningioma; targeted therapy; MELANOMA; INACTIVATION; INHIBITION; DABRAFENIB; TRIAL;

D O I：

10.3109/08880018.2014.936058

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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 APCI1307K. After treatment with BRAF inhibitor (dabrafenib), the child's clinical condition improved progressively. After seven months, an MEK inhibitor was added (trametinib).

引用

页码：207 / 211

页数：5

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