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Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas

Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas,10.1093/neuonc/noq007,Neuro-oncology,M. J. Dougherty,M. Santi,M. S

Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas   (Citations: 6)
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Journal: Neuro-oncology , vol. 12, no. 7, pp. 621-630, 2010
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    • ...detected in small series of pediatric gangliogliomas, pleomorphic xanthoastrocytomas, desmoplastic infantile gangliogliomas and atypical teratoid/rhabdoid tumors as well as pediatric GBM, anaplastic astrocytomas and diffuse astrocytomas [6, 12, 17, 34]...
    • ...This corroborates recent observations in smaller tumor series that demonstrated BRAF V600E mutations in few cases of PXA [6, 12, 30]...
    • ...In our cohort, the BRAF mutation frequency was slightly lower than what was expected from a previous investigation of pediatric GG in which 9 of 18 GG (50%) harbored BRAF V600E mutations [6]...
    • ...Intriguingly, a fraction of around 10% of GG is also characterized by a homozygous deletion of 9p21 including CDKN2A, further indicating a possible relation to PXA [6]...
    • ...in 3/3 unusual cases of AT/RT [6]; all three tumors had evolved from lower grade lesions, one from a GG, two from PXA II, two of these cases have been described in detail elsewhere [1, 4]. In line with additional cases investigated by Dougherty and colleagues [6], no BRAF codon 600 hot-spot mutations were observed in 14 AT/RT that had typical clinical courses...
    • ...in 3/3 unusual cases of AT/RT [6]; all three tumors had evolved from lower grade lesions, one from a GG, two from PXA II, two of these cases have been described in detail elsewhere [1, 4]. In line with additional cases investigated by Dougherty and colleagues [6], no BRAF codon 600 hot-spot mutations were observed in 14 AT/RT that had typical clinical courses...

    Genevieve Schindleret al. Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals...

    • ...Mutation analysis of BRAF exons 11 and 15 was performed by polymerase chain reaction (PCR) and sequencing as described [10]...
    • ...In contrast, our recent SNP array and BRAF mutation studies of various low-grade, non-pilocytic, gliomas have shown that activating mutations in the BRAF oncogene, as opposed to the duplication and BRAF fusion, occur in a variety of other histologic subtypes, e.g., ganglioglioma and PXA [10]...

    Jeffrey C. Murrayet al. Temporal lobe pleomorphic xanthoastrocytoma and acquired BRAF mutation...

    • ...MAPK/ ERK pathway activation through aberrations of BRAF and RAF1 in sporadic PA or the NF1 gene in neurofibromatosis type 1 (NF1)-associated PA are most frequent [1, 6, 8, 13, 15, 22, 31]...
    • ...diffuse gliomas [27] and gangliogliomas [6]...

    Erika F. Rodriguezet al. PI3K/AKT pathway alterations are associated with clinically aggressive...

    • ...In low-grade glioma without RAF gene fusions there is increasing evidence for activation of the ERK/MAPK pathway through alternative mechanisms, such as point mutation of KRAS or BRAF [2, 11, 13]...

    Andrew R. J. Lawsonet al. RAF gene fusions are specific to pilocytic astrocytoma in a broad paed...

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