Frank Adrian J, Hernan Roberto, Hollander Andrew, Lindsey Janet C, Lusher Meryl E, Fuller Christine E, Clifford Steven C, Gilbertson Richard J
Northern Institute for Cancer Research, University of Newcastle, The Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.
Brain Res Mol Brain Res. 2004 Feb 5;121(1-2):137-40. doi: 10.1016/j.molbrainres.2003.11.016.
We analyzed the TP53 and INK4A/ARF loci in 29 pediatric medulloblastomas. Mutually exclusive mutation in TP53, methylation of P14(ARF) or deletion of INK4A/ARF were identified in 21% (6/29) of tumors. Five of these alterations were detected in large cell/anaplastic medulloblastomas or tumors with significant anaplasia. Our data provide the first evidence that alterations within the TP53-ARF tumor suppressor pathway contribute to development of aggressive forms of medulloblastoma.
我们分析了29例儿童髓母细胞瘤中的TP53和INK4A/ARF基因座。在21%（6/29）的肿瘤中发现了TP53的互斥突变、P14（ARF）的甲基化或INK4A/ARF的缺失。其中5种改变在大细胞/间变性髓母细胞瘤或具有显著间变的肿瘤中被检测到。我们的数据首次证明，TP53-ARF肿瘤抑制通路中的改变有助于侵袭性髓母细胞瘤的发生发展。
