|
|
|
|
|
|
||
|
|
||||
|
|
||||
|
||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rapid Report |
Division of Molecular Histopathology, Department of Pathology, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK (K.I., D.M.P., S.K., R.C., D.T.W.J., V.P.C.); Department of Oncology-Pathology, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden (L.M.B.)
Address correspondence to Koichi Ichimura, Molecular Histopathology, Level 3, Lab Block, Addenbrooke's Hospital, Box 231, Cambridge CB2 0QQ, UK (ki212{at}cam.ac.uk).
We screened exon 4 of the gene isocitrate dehydrogenase 1 (NADP+), soluble (IDH1) for mutations in 596 primary intracranial tumors of all major types. Codon 132 mutation was seen in 54% of astrocytomas and 65% of oligodendroglial tumors but in only 6% of glioblastomas (3% of primary and 50% of secondary glioblastomas). There were no mutations in any other type of tumor studied. While mutations in the tumor protein p53 gene (TP53) and total 1p/19q deletions were mutually exclusive, IDH1 mutations were strongly correlated with these genetic abnormalities. All four types of mutant IDH1 proteins showed decreased enzymatic activity. The data indicate that IDH1 mutation combined with either TP53 mutation or total 1p/19q loss is a frequent and early change in the majority of oligodendroglial tumors, diffuse astrocytomas, anaplastic astrocytomas, and secondary glioblastomas but not in primary glioblastomas.
Key Words: astrocytoma • oligodendroglioma • 1p/19q loss • oxidative stress • p53
CiteULike 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
|
|
