Mutant BRAF in low-grade epilepsy-associated tumors and focal cortical dysplasia

被引：33

作者：

Marucci, Gianluca ^{[1
]}

de Biase, Dario ^{[2
]}

Visani, Michela ^{[3
]}

Giulioni, Marco ^{[4
]}

Martinoni, Matteo ^{[4
]}

Volpi, Llilia ^{[5
]}

Riguzzi, Patrizia ^{[5
]}

Rubboli, Guido ^{[5
,6
]}

Michelucci, Roberto ^{[5
]}

Tallini, Giovanni ^{[2
]}

机构：

[1] Univ Bologna, Bellaria Hosp, Sect Pathol M Malpighi, Dept Biomed & NeuroMotor Sci DiBiNeM, Bologna, Italy

[2] Univ Bologna, Bellaria Hosp, Dept Expt Diagnost & Specialty Med, DIMES,Anat Pathol, Bologna, Italy

[3] Univ Bologna, Dept Pharm & Biotechnol, FaBiT, Bologna, Italy

[4] AUSL Bologna, IRCCS Inst Neurol Sci Bologna, Div Neurosurg, Bologna, Italy

[5] AUSL Bologna, IRCCS Inst Neurol Sci Bologna, Div Neurol, Bologna, Italy

[6] Epilepsihosp, Danish Epilepsy Ctr, Dianalund, Denmark

来源：

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | 2014年 / 1卷 / 02期

关键词：

V600E MUTATION; CLASSIFICATION; SYSTEM;

D O I：

10.1002/acn3.31

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

BRAF alterations, namely BRAF fusion and BRAF V600E mutation, have been recently reported in low-grade epilepsy-associated tumors. Twenty low-grade epilepsy-associated tumors were retrieved to evaluate the BRAF mutational status. BRAF mutations were present in 10 tumors and concomitantly in associated dysplastic tissue of three patients. We here show for the first time that BRAF mutations are present not only in low-grade epilepsy-associated tumors but, in some cases, also in the associated focal cortical dysplasia.

引用

页码：130 / 134

页数：5

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