髄芽腫 medulloblastoma
- 小児の小脳虫部に好発し、第四脳室に浸潤し脳脊髄液を介して脊髄に転移するため極めて悪性度が高い。 近年になってようやく5年生存率が50%にまで上昇した。
- 病理所見 :Homer-Wright型rosette
- 治療:腫瘍摘出術を行ない、術後に全脳および全脊髄への放射線照射とともに化学療法を行なう。
- CDSの全シークエンス
- アレイによるCNV(CNA)
- miRNA (これはVogelsteinとしては珍しいのでは・・・・?)
Published Online 16 December 2010
Research Article
The Genetic Landscape of the Childhood Cancer Medulloblastoma
D. Williams Parsons1,2,*, Meng Li1,*・・・・・, Nick Papadopoulos1, Bert Vogelstein1,‡, Kenneth W. Kinzler1,‡ and Victor E. Velculescu1,‡
Abstract
Medulloblastoma (MB) is the most common malignant brain tumor of children. To identify the genetic alterations in this tumor type, we searched for copy number alterations using high-density microarrays and sequenced all known protein-coding genes and miRNA genes using Sanger sequencing in a set of 22 MBs. We found that, on average, each tumor had 11 gene alterations, 5 to 10 times fewer than in the adult solid tumors that have been sequenced to date. In addition to alterations in the Hedgehog and Wnt pathways, our analysis led to the discovery of genes not previously known to be altered in MBs. Most notably, inactivating mutations of the histone-lysine N-methyltransferase genes MLL2 or MLL3 were identified in 16% of MB patients. These results demonstrate key differences between the genetic landscapes of adult and childhood cancers, highlight dysregulation of developmental pathways as an important mechanism underlying MBs, and identify a role for a specific type of histone methylation in human tumorigenesis.
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