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

共 50 条

[41] Epilepsy-associated brain tumors
Vogelgesang, S.
ACTA NEUROPATHOLOGICA, 2007, 114 (03) : 330 - 330
[42] Challenges in epilepsy-associated tumors
Giulioni, Marco
Martinoni, Matteo
Marucci, Gianluca
JOURNAL OF NEURO-ONCOLOGY, 2016, 130 (01) : 239 - 240
[43] Epilepsy-Associated Glioneuronal Tumors
Kopachev D.N.
Shishkina L.V.
Shkatova A.M.
Golovteev A.L.
Troitsky A.A.
Grinenko O.A.
Sharkova S.M.
Petrosyan D.V.
Gushcha A.O.
Neuroscience and Behavioral Physiology, 2022, 52 (8) : 1199 - 1206
[44] Early and late epilepsy surgery in focal epilepsies associated with long-term epilepsy-associated tumors
Pelliccia, Veronica
Deleo, Francesco
Gozzo, Francesca
Sartori, Ivana
Mai, Roberto
Cossu, Massimo
Tassi, Laura
JOURNAL OF NEUROSURGERY, 2017, 127 (05) : 1147 - 1152
[45] Low-grade epilepsy-associated neuroepithelial tumours with a prominent oligodendroglioma-like component: The diagnostic challenges
Metais, Alice
Appay, Romain
Pages, Melanie
Gallardo, Catherine
Silva, Karen
Siegfried, Aurore
Perbet, Romain
Maurage, Claude-Alain
Scavarda, Didier
Fina, Frederic
Uro-Coste, Emmanuelle
Riffaud, Laurent
Colin, Carole
Figarella-Branger, Dominique
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2022, 48 (02)
[46] Cavernous angiomas in chronic epilepsy associated with focal cortical dysplasia
Chen, Derrick J.
Severson, Elizabeth
Prayson, Richard A.
CLINICAL NEUROPATHOLOGY, 2013, 32 (01) : 31 - 36
[47] Dysfunction of synaptic inhibition in epilepsy associated with focal cortical dysplasia
Calcagnotto, ME
Paredes, MF
Tihan, T
Barbaro, NM
Baraban, SC
JOURNAL OF NEUROSCIENCE, 2005, 25 (42): : 9649 - 9657
[48] Cavernous Angiomas in Chronic Epilepsy Associated with Focal Cortical Dysplasia
Severson, E. R.
Chen, D. J.
Prayson, R. A.
LABORATORY INVESTIGATION, 2012, 92 : 436A - 436A
[49] Cavernous Angiomas in Chronic Epilepsy Associated with Focal Cortical Dysplasia
Severson, E. R.
Chen, D. J.
Prayson, R. A.
MODERN PATHOLOGY, 2012, 25 : 436A - 436A
[50] Challenges in managing epilepsy associated with focal cortical dysplasia in children
Wong-Kisiel, Lily C.
Blauwblomme, Thomas
Ho, Mai-Lan
Boddaert, Nathalie
Parisi, Joseph
Wirrell, Elaine
Nabbout, Rima
EPILEPSY RESEARCH, 2018, 145 : 1 - 17

← 1 2 3 4 5 →