Rapid fully-automated assay for routine molecular diagnosis of BRAF mutations for personalized therapy of low grade gliomas

References

• Louis DN, Perry A, Reifenberger G, et al. The 2016 World Health Organization classification of tumors of the central nervous system: a summary. Acta Neuropathol. 2016;131(6):803–820. doi:10.1007/s00401-016-1545-1.
   PubMed Web of Science ®Google Scholar
• Brown TJ, Bota DA, van Den Bent MJ, et al. Management of low-grade glioma: a systematic review and meta-analysis. Neurooncol Pract. 2019;6:249–258. doi:10.1093/nop/npy034.
   PubMed Web of Science ®Google Scholar
• Lassaletta A, Zapotocky M, Mistry M, et al. Therapeutic and prognostic implications of BRAF V600E in pediatric low-grade gliomas. J Clin Oncol. 2017;35(25):2934–2941. doi:10.1200/JCO.2016.71.8726.
   PubMed Web of Science ®Google Scholar
• Sievert AJ, Fisher MJ. Pediatric low-grade gliomas. J Child Neurol. 2009;24(11):1397–1408. doi:10.1177/0883073809342005.
   PubMed Web of Science ®Google Scholar
• Chappé C, Padovani L, Scavarda D, et al. Dysembryoplastic neuroepithelial tumors share with pleomorphic xanthoastrocytomas and gangliogliomas BRAF(V600E) mutation and expression. Brain Pathol. 2013;23(5):574–583. doi:10.1111/bpa.12048.
   PubMed Web of Science ®Google Scholar
• Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature. 2002;417(6892):949–954. doi:10.1038/nature00766.
   PubMed Web of Science ®Google Scholar
• Jonsson P, Lin AL, Young RJ, et al. Genomic correlates of disease progression and treatment response in prospectively characterized gliomas. Clin Cancer Res. 2019;25(18):5537. [Epub ahead of print] doi:10.1158/1078-0432.CCR-19-0032.
   PubMed Web of Science ®Google Scholar
• Dougherty MJ, Santi M, Brose MS, et al. Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas. Neuro Oncol. 2010;12(7):621–630. doi:10.1093/neuonc/noq007.
   PubMed Web of Science ®Google Scholar
• Kieran MW. Targeting BRAF in pediatric brain tumors. Am Soc Clin Oncol Educ Book. 2014;34:e436–40. doi:10.14694/EdBook_AM.2014.34.e436.
   Google Scholar
• Schindler G, Capper D, Meyer J, et al. Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol. 2011;121(3):397–405. doi:10.1007/s00401-011-0802-6.
   PubMed Web of Science ®Google Scholar
• Chi AS, Batchelor TT, Yang D, et al. BRAFV600E mutation identifies a subset of low-grade diffusely infiltrating gliomas in adults. J Clin Oncol. 2013;31(14):e233–e236. doi:10.1200/JCO.2012.46.0220.
   PubMed Web of Science ®Google Scholar
• Dias-Santagata D, Lam Q, Vernovsky K, et al. BRAFV600E mutations are common in pleomorphic xanthoastrocytoma: Diagnostic and therapeutic implications. PLoS One. 2011;6(3):e17948. doi:10.1371/journal.pone.0017948.
   PubMed Web of Science ®Google Scholar
• Aguilera D, Janss A, Mazewski C, et al. Successful retreatment of a child with a refractory brainstem ganglioglioma with vemurafenib. Pediatr Blood Cancer. 2016;63(3):541–543. doi:10.1002/pbc.25787.
   PubMed Web of Science ®Google Scholar
• Del Bufalo F, Ceglie G, Cacchione A, et al. BRAF V600E inhibitor (vemurafenib) for BRAF V600E mutated low grade gliomas. Front Oncol. 2018;8:526.
   PubMed Web of Science ®Google Scholar
• Del Bufalo F, Carai A, Figà-Talamanca L, et al. Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent. J Transl Med. 2014;12(1):356. doi:10.1186/s12967-014-0356-1.
   PubMedGoogle Scholar
• Van Tilburg CM, Selt F, Sahm F, et al. Response in a child with a BRAF V600E mutated desmoplastic infantile astrocytoma upon retreatment with vemurafenib. Pediatr Blood Cancer. 2018;65(3):e26893. doi:10.1002/pbc.26893.
   Web of Science ®Google Scholar
• Kaley T, Touat M, Subbiah V, et al. BRAF inhibition in BRAF(V600)-mutant gliomas: results from the VE-BASKET study. J Clin Oncol. 2018;36(35):3477–3484. [Epub ahead of print] doi:10.1200/JCO.2018.78.9990.
   PubMed Web of Science ®Google Scholar
• Brennan CW, Verhaak RG, McKenna A, TCGA Research Network, et al. The somatic genomic landscape of glioblastoma. Cell. 2013;155:462–477 Erratum in: Cell. 2014;157:753. 24doi:10.1016/j.cell.2014.04.004.
   PubMed Web of Science ®Google Scholar
• Brat DJ, Verhaak RG, Aldape KD, Cancer Genome Atlas Research Network, et al. Comprehensive, integrative genomic analysis of diffuse lower-grade gliomas. N Engl J Med. 2015;372(26):2481–2498. doi:10.1056/NEJMoa1402121.
   PubMed Web of Science ®Google Scholar
• Zehir A, Benayed R, Shah RH, et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat Med. 2017;23(6):703–713. doi:10.1038/nm.4333.
   PubMed Web of Science ®Google Scholar
• Harlé A, Salleron J, Franczak C, et al. Detection of BRAF mutations using a fully automated platform and comparison with high resolution melting, real-time allele specific amplification, immunohistochemistry and next generation sequencing assays, for patients with metastatic melanoma. PLoS One. 2016;11(4):e0153576. doi:10.1371/journal.pone.0153576.
   PubMed Web of Science ®Google Scholar
• Leboulleux S, Dupuy C, Lacroix L, et al. Redifferentiation of a braf601e-mutated poorly differentiated thyroid cancer patient with dabrafenib and trametinib treatment. Thyroid. 2019; 29(5):735–742. doi:10.1089/thy.2018.0457.
   PubMed Web of Science ®Google Scholar
• Sutton BC, Birse RT, Maggert K, et al. Assessment of common somatic mutations of EGFR, KRAS, BRAF, NRAS in pulmonary non-small cell carcinoma using iPLEX® HS, a new highly sensitive assay for the MassARRAY® System. PLoS One. 2017;12(9):e0183715. doi:10.1371/journal.pone.0183715.
   PubMed Web of Science ®Google Scholar
• Curry JL, Torres-Cabala CA, Tetzlaff MT, et al. Molecular platforms utilized to detect BRAF V600E mutation in melanoma. Semin Cutan Med Surg. 2012;31(4):267–273. doi:10.1016/j.sder.2012.07.007.
   PubMed Web of Science ®Google Scholar
• Mistry M, Zhukova N, Merico D, et al. BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma. J Clin Oncol. 2015;33(9):1015–1022. doi:10.1200/JCO.2014.58.3922.
   PubMed Web of Science ®Google Scholar
• Chamberlain MC. Salvage therapy with BRAF inhibitors for recurrent pleomorphic xanthoastrocytoma: a retrospective case series. J Neurooncol. . 2013;114(2):237–240. doi:10.1007/s11060-013-1176-5.
   PubMed Web of Science ®Google Scholar
• Bautista F, Paci A, Minard-Colin V, et al. Vemurafenib in pediatric patients with BRAFV600E mutated high-grade gliomas. Pediatr Blood Cancer. 2014;61(6):1101–1103. doi:10.1002/pbc.24891.
   PubMed Web of Science ®Google Scholar
• Burger MC, Ronellenfitsch MW, Lorenz NI, et al. Dabrafenib in patients with recurrent, BRAFV600E mutated malignant glioma and leptomeningeal disease. Oncol Rep. 2017;38:3291–3296.
   PubMed Web of Science ®Google Scholar
• Johanns TM, Ferguson CJ, Grierson PM, et al. Rapid clinical and radiographic response with combined dabrafenib and trametinib in adults with BRAF mutated high-grade glioma. J Natl Compr Canc Netw. 2018;16(1):4–10. doi:10.6004/jnccn.2017.7032.
   PubMed Web of Science ®Google Scholar
• Brown NF, Carter T, Kitchen N, et al. Dabrafenib and trametinib in BRAFV600E mutated glioma. CNS Oncol. 2017;6(4):291–296. doi:10.2217/cns-2017-0006.
   PubMedGoogle Scholar
• Migliorini D, Aguiar D, Vargas MI, et al. BRAF/MEK double blockade in refractory anaplastic pleomorphic xanthoastrocytoma. Neurology. 2017;88(13):1291–1293. doi:10.1212/WNL.0000000000003767.
   PubMed Web of Science ®Google Scholar
• Franczak C, Dubouis L, Gilson P, et al. Integrated routine workflow using next-generation sequencing and a fully-automated platform for the detection of KRAS, NRAS and BRAF mutations in formalin-fixed paraffin embedded samples with poor DNA quality in patients with colorectal carcinoma. PLoS One. 2019;14(2):e0212801. doi:10.1371/journal.pone.0212801.
   PubMed Web of Science ®Google Scholar
• Schiefer AI, Parlow L, Gabler L, et al. Multicenter evaluation of a novel automated rapid detection system of BRAF status in formalin-fixed, paraffin-embedded tissues. J Mol Diagn. 2016;18(3):370–377. doi:10.1016/j.jmoldx.2015.12.005.
   PubMed Web of Science ®Google Scholar
• Wang AC, Jones DTW, Abecassis IJ, et al. Desmoplastic Infantile ganglioglioma/astrocytoma (DIG/DIA) are distinct entities with frequent BRAFV600 mutations. Mol Cancer Res. 2018;16(10):1491–1498. doi:10.1158/1541-7786.MCR-17-0507.
   PubMed Web of Science ®Google Scholar
• Gilson P, Franczak C, Dubouis L, et al. Evaluation of KRAS, NRAS and BRAF hotspot mutations detection for patients with metastatic colorectal cancer using direct DNA pipetting in a fully-automated platform and Next-Generation Sequencing for laboratory workflow optimisation. PLoS One. 2019;14(7):e0219204. doi:10.1371/journal.pone.0219204.
   PubMed Web of Science ®Google Scholar
• Kambouchner M, Emile JF, Copin MC, et al. Childhood pulmonary Langerhans cell histiocytosis: a comprehensive clinical-histopathological and BRAF(V600E) mutation study from the French national cohort. Hum Pathol. 2019;89:51–61. doi:10.1016/j.humpath.2019.04.005.
   PubMed Web of Science ®Google Scholar