BRAF V600E mutation: A treatable driver mutation in pleomorphic xanthoastrocytoma (PXA)

2015 ◽  
Vol 55 (1) ◽  
pp. 122-123 ◽  
Author(s):  
Silvia Hofer ◽  
Grégoire Berthod ◽  
Christian Riklin ◽  
Elisabeth Rushing ◽  
Jonas Feilchenfeldt
Keyword(s):  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e Mutation ◽  
Driver Mutation ◽  
Braf V600e

scholarly journals Combined pleomorphic xanthoastrocytoma-ganglioglioma with BRAF V600E mutation: case report

2016 ◽  
Vol 18 (1) ◽  
pp. 53-57 ◽  
Author(s):  
Marta Cicuendez ◽  
Elena Martinez-Saez ◽  
Francisco Martinez-Ricarte ◽  
Esteban Cordero Asanza ◽  
Juan Sahuquillo
Keyword(s):  
Case Report ◽  
Tumor Recurrence ◽  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Rare Tumor ◽  
Total Resection ◽  
Cell Lineages ◽  
Cellular Origin ◽  
History Of

Combined pleomorphic xanthoastrocytoma (PXA) and ganglioglioma (GG) is an extremely rare tumor, with fewer than 20 cases reported. The authors report a case of combined PXA-GG in an 18-year-old man with a history of seizures. The tumor showed necrosis and the BRAF V600E mutation on histological examination, with no evidence of tumor recurrence 1 year after gross-total resection. The BRAF V600E mutation was present, which suggests that both cell lineages may share a common cellular origin.

scholarly journals Recurrent copy number alterations in low-grade and anaplastic pleomorphic xanthoastrocytoma with and without BRAF V600E mutation

2017 ◽  
Vol 28 (2) ◽  
pp. 172-182 ◽  
Author(s):  
Rachael A. Vaubel ◽  
Alissa A. Caron ◽  
Seiji Yamada ◽  
Paul A. Decker ◽  
Jeanette E. Eckel Passow ◽  
...  
Keyword(s):  
Copy Number ◽  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Low Grade ◽  
Copy Number Alterations

Epithelioid glioblastoma arising from pleomorphic xanthoastrocytoma with the BRAF V600E mutation

2014 ◽  
Vol 31 (3) ◽  
pp. 172-176 ◽  
Author(s):  
Shingo Tanaka ◽  
Mitsutoshi Nakada ◽  
Sumihito Nobusawa ◽  
Satoshi O. Suzuki ◽  
Hemragul Sabit ◽  
...  
Keyword(s):  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Epithelioid Glioblastoma

Cerebellar Pleomorphic Xanthoastrocytoma with BRAF V600E Mutation

2020 ◽  
Vol 139 ◽  
pp. 577-581 ◽  
Author(s):  
Sang Ho Kim ◽  
Kihwan Hwang ◽  
Kyu Sang Lee ◽  
Gheeyoung Choe ◽  
Chae-Yong Kim
Keyword(s):  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e Mutation ◽  
Braf V600e

scholarly journals Immunohistochemistry is highly sensitive and specific for detection of BRAF V600E mutation in pleomorphic xanthoastrocytoma

2013 ◽  
Vol 1 (1) ◽  
pp. 20 ◽  
Author(s):  
Cristiane M Ida ◽  
Julie A Vrana ◽  
Fausto J Rodriguez ◽  
Mark E Jentoft ◽  
Alissa A Caron ◽  
...  
Keyword(s):  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Highly Sensitive

scholarly journals Acquired ATRX Loss and ALT Phenotype Through Tumor Recurrences in a Case of Pleomorphic Xanthoastrocytoma Suggest Their Possible Roles in Tumor Progression

2020 ◽  
Vol 79 (9) ◽  
pp. 1011-1014
Author(s):  
Pierre Dal Col ◽  
Delphine Poncet ◽  
Romain Rivoirard ◽  
François Vassal ◽  
Emilie Bernichon ◽  
...  
Keyword(s):  
Young Adults ◽  
Tumor Progression ◽  
Pleomorphic Xanthoastrocytoma ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Tumor Evolution ◽  
Molecular Alterations ◽  
Astrocytic Glioma ◽  
Alternative Lengthening ◽  
Cdkn2a Deletion

Abstract Pleomorphic xanthoastrocytoma (PXA) is classified as an astrocytic glioma occurring most often in children or young adults. Molecular alterations in PXA are not fully known, especially those associated with tumor progression. We describe a patient with several relapses of a PXA. The tumor showed an acquired ATRX loss through tumor evolution. We tested alternative lengthening of telomeres (ALT) with the C-circle test. While the test was negative in the first tumor, a high circle activity was detected in the last relapse, suggesting an acquired ALT phenotype. Our data not only confirm previous findings of the possible occurrence of ATRX mutations in PXA but also suggest that this alteration is linked to PXA progression. In small biopsies, tumors with ATRX loss, without IDH or histone mutation, pathologists should consider the diagnosis of PXA, especially if associated with BRAF V600E mutation, CDKN2A deletion, and ALT.

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