FAM131B-BRAF Fusion Gene Resulting From 7q34 Deletion Leads to MAPK Pathway Activation in Pilocytic Astrocytoma
H Cin, C Meyer, R Herr, WG Janzarik, S Lambert, DTW Jones, K Jacob, A Benner, H Witt, M Remke, S Bender, F Falkenstein, TN Van Anh, H Olbrich, A von Deimling, A Pekrun, AE Kulozik, A Gnekow, W Scheurlen, O Witt, H Omran, N Jabado, VP Collins, T Brummer, R Mar… · Klinische Pädiatrie · 2011 · Heft 11
Bibliografische Angaben
Zusammenfassung
Pilocytic astrocytoma (PA) constitutes the most common pediatric brain tumor. Despite the benign clinical behavior reported for PA, patients with tumors arising in inaccessible anatomical locations, show a poorer prognosis and tumor recurrence remains a great clinical challenge. However, there has been a paucity of genetic markers regarding PA tumorigenesis. Recently, we and others have shown that tandem duplication at 7q34, resulting in KIAA1549-BRAF fusion genes and constitutive activation of the MAPK signaling pathway, is a hallmark genetic lesion in PA development. Alternative mechanisms of MAPK activation i…
