V600E BRAF mutation in pilocytic astrocytoma is associated with a more diffuse growth pattern but does not confer a more aggressive clinical behavior

被引:12
作者
Bannykh, Sergei I. [1 ,2 ]
Mirocha, James [3 ]
Nuno, Miriam [4 ]
Lopategui, Jean [1 ,2 ]
Kandala, Gokul [1 ,2 ]
机构
[1] Cedars Sinai Med Ctr, Dept Pathol, Los Angeles, CA 90048 USA
[2] Cedars Sinai Med Ctr, Dept Lab Med, Los Angeles, CA 90048 USA
[3] Cedars Sinai Med Ctr, Biostat Res Inst, Los Angeles, CA 90048 USA
[4] Cedars Sinai Med Ctr, Dept Neurosurg, Maxine Dunitz Neurosurg Inst, Ctr Neurosurg Outcomes Res, Los Angeles, CA 90048 USA
关键词
pilocytic; astrocytoma; BRAF; V600E; prognosis; MAPK PATHWAY ACTIVATION; LOW-GRADE ASTROCYTOMAS; FUSION GENE; GLIOMAS; DUPLICATION; FREQUENT; TUMORS; MECHANISM; 7Q34; CEREBELLAR;
D O I
10.5414/NP300753
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Activation in mitogen activated protein kinase signaling pathway has recently been described as a predominant event in pilocytic astrocytoma (PA) and is commonly caused by constitutively active mutation in BRAF protein. Whereas PA of posterior fossa in children have a high prevalence of BRAF duplication and fusion, primary molecular abnormalities in supratentorial tumors of adults are more diverse and also include BRAF V600E point mutation. In our study we evaluated 51 PAs for BRAF duplication and BRAF V600E point mutation. We found a relatively high frequency of V600E mutation in our cohort. Histologically, V600E-carrying PA appeared more infiltrative, yet our limited clinical follow-up failed to detect a deleterious prognostic significance.
引用
收藏
页码:388 / 398
页数:11
相关论文
共 41 条
[1]   KIAA1549-BRAF Fusions and IDH Mutations Can Coexist in Diffuse Gliomas of Adults [J].
Badiali, Manuela ;
Gleize, Vincent ;
Paris, Sophie ;
Moi, Loredana ;
Elhouadani, Selma ;
Arcella, Antonietta ;
Morace, Roberta ;
Antonelli, Manila ;
Buttarelli, Francesca Romana ;
Figarella-Branger, Dominique ;
Kim, Young-Ho ;
Ohgaki, Hiroko ;
Mokhtari, Karima ;
Sanson, Marc ;
Giangaspero, Felice .
BRAIN PATHOLOGY, 2012, 22 (06) :841-847
[2]   Frequent gains at chromosome 7q34 involving BRAF in pilocytic astrocytoma [J].
Bar, Eli E. ;
Lin, Alex ;
Tihan, Tarik ;
Burger, Peter C. ;
Eberhart, Charles G. .
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2008, 67 (09) :878-887
[3]   The molecular and cell biology of pediatric low-grade gliomas [J].
Chen, Y-H ;
Gutmann, D. H. .
ONCOGENE, 2014, 33 (16) :2019-2026
[4]   Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer [J].
Ciampi, R ;
Knauf, JA ;
Kerler, R ;
Gandhi, M ;
Zhu, ZW ;
Nikiforova, MN ;
Rabes, HM ;
Fagin, JA ;
Nikiforov, YE .
JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (01) :94-101
[5]   Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma [J].
Cin, Huriye ;
Meyer, Claus ;
Herr, Ricarda ;
Janzarik, Wibke G. ;
Lambert, Sally ;
Jones, David T. W. ;
Jacob, Karine ;
Benner, Axel ;
Witt, Hendrik ;
Remke, Marc ;
Bender, Sebastian ;
Falkenstein, Fabian ;
Ton Nu Van Anh ;
Olbrich, Heike ;
von Deimling, Andreas ;
Pekrun, Arnulf ;
Kulozik, Andreas E. ;
Gnekow, Astrid ;
Scheurlen, Wolfram ;
Witt, Olaf ;
Omran, Heymut ;
Jabado, Nada ;
Collins, V. Peter ;
Brummer, Tilman ;
Marschalek, Rolf ;
Lichter, Peter ;
Korshunov, Andrey ;
Pfister, Stefan M. .
ACTA NEUROPATHOLOGICA, 2011, 121 (06) :763-774
[6]   High-resolution, dual-platform aCGH analysis reveals frequent HIPK2 amplification and increased expression in pilocytic astrocytomas [J].
Deshmukh, H. ;
Yeh, T. H. ;
Yu, J. ;
Sharma, M. K. ;
Perry, A. ;
Leonard, J. R. ;
Watson, M. A. ;
Gutmann, D. H. ;
Nagarajan, R. .
ONCOGENE, 2008, 27 (34) :4745-4751
[7]   Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas [J].
Dougherty, Margaret J. ;
Santi, Mariarita ;
Brose, Marcia S. ;
Ma, Changqing ;
Resnick, Adam C. ;
Sievert, Angela J. ;
Storm, Phillip B. ;
Biegel, Jaclyn A. .
NEURO-ONCOLOGY, 2010, 12 (07) :621-630
[8]   Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma [J].
Eisenhardt, Anja E. ;
Olbrich, Heike ;
Roering, Michael ;
Janzarik, Wibke ;
Ton Nu Van Anh ;
Cin, Huriye ;
Remke, Marc ;
Witt, Hendrik ;
Korshunov, Andrey ;
Pfister, Stefan M. ;
Omran, Heymut ;
Brummer, Tilman .
INTERNATIONAL JOURNAL OF CANCER, 2011, 129 (09) :2297-2303
[9]   Activation of the ERK/MAPK pathway: a signature genetic defect in posterior fossa pilocytic astrocytomas [J].
Forshew, Tim ;
Tatevosslan, Ruth G. ;
Lawson, Andrew R. J. ;
Ma, Jing ;
Neale, Geoff ;
Ogunkolade, Babatunji W. ;
Jones, Tania A. ;
Aarum, Johan ;
Dalton, James ;
Bailey, Simon ;
Chaplin, Tracy ;
Carter, Rowena L. ;
Gajjar, Amar ;
Broniscer, Alberto ;
Young, Bryan D. ;
Ellison, David W. ;
Sheer, Denise .
JOURNAL OF PATHOLOGY, 2009, 218 (02) :172-181
[10]   BRAF-KIAA1549 fusion transcripts are less frequent in pilocytic astrocytomas diagnosed in adults [J].
Hasselblatt, M. ;
Riesmeier, B. ;
Lechtape, B. ;
Brentrup, A. ;
Stummer, W. ;
Albert, F. K. ;
Sepehrnia, A. ;
Ebel, H. ;
Gerss, J. ;
Paulus, W. .
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2011, 37 (07) :803-806