Tandem duplications of 7q34 and 3q25 in pilocytic astrocytoma result in RAF fusion genes
H Cin, C Meyer, H Witt, M Remke, W Janzarik, T Nu Van Anh, H Olbrich, A von Deimling, A Kulozik, R Marschalek, O Witt, H Omran, P Lichter, A Korshunov, S Pfister · Klinische Pädiatrie · 2010 · Heft 05
Bibliografische Angaben
Zusammenfassung
Pilocytic astrocytoma (PA) is the most common childhood brain tumor (WHO I) and typically shows no malignant progression. Molecular mechanisms of PA formation remained poorly defined until recently, when we idenfidied tandem duplications at 7q34 as a hallmark genetic lesion in PA. These duplicationsresult in BRAF fusion genes and lead to constitutive MAPK activation. NF1, KRAS and BRAF mutations, and occasionally RAF1 gene fusions occur mostly in a mutually exclusive manner with BRAF gene fusions, except a single case in our series which concomitantly harbors NF1 and BRAF mutations in conjunction with BRAF fusio…
