IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas.
TLDR
A total of 130 IDH1 mutations were detected in 321 gliomas of various histological types and biological behaviors, and all were located at amino acid residue 132.Abstract:
IDH1 encodes isocitrate dehydrogenase 1, which participates in the citric acid cycle and was recently reported to be mutated in 12% of glioblastomas. We assessed IDH1 mutations in 321 gliomas of various histological types and biological behaviors. A total of 130 IDH1 mutations was detected, and all were located at amino acid residue 132. Of these, 91% were G→A mutations (Arg→His). IDH1 mutations were frequent in low-grade diffuse astrocytomas (88%) and in secondary glioblastomas that developed through progression from low-grade diffuse or anaplastic astrocytoma (82%). Similarly, high frequencies of IDH1 mutations were found in oligodendrogliomas (79%) and oligoastrocytomas (94%). Analyses of multiple biopsies from the same patient (51 cases) showed that there were no cases in which an IDH1 mutation occurred after the acquisition of either a TP53 mutation or loss of 1p/19q, suggesting that IDH1 mutations are very early events in gliomagenesis and may affect a common glial precursor cell population. IDH1 mutations were co-present with TP53 mutations in 63% of low-grade diffuse astrocytomas and with loss of heterozygosity 1p/19q in 64% of oligodendrogliomas; they were rare in pilocytic astrocytomas (10%) and primary glioblastomas (5%) and absent in ependymomas. The frequent presence of IDH1 mutations in secondary glioblastomas and their near-complete absence in primary glioblastomas reinforce the concept that despite their histological similarities, these subtypes are genetically and clinically distinct entities.read more
Citations
More filters
Book ChapterDOI
Noncanonical (Non-R132H) IDH-Mutated Gliomas
TL;DR: The non-p.R132H (non-canonical) mutations in the IDH1 gene were also documented in around 20% of mutated glioma as discussed by the authors .
Book ChapterDOI
Imaging Markers of Lower-Grade Diffuse Glioma
TL;DR: This chapter provides an overview of the current status of molecular and imaging markers in lower-grade glioma (LGG) management and discusses surrogate markers of histological tumour grade and molecular features, and characteristics that aid in early detection of malignant transformation (MT).
Analisis Peran p53 pada Astrositoma Difus dan Astrositosis: Studi Diagnostik
Eka Susanto,Esti Soetrisno,Nurjati Chairani Siregar,Ening Krisnuhoni,Primariadewi Rustamadji +4 more
TL;DR: Penelitian ini dilakukan untuk menganalisis pulasan imunohistokimia p53 dalam membedakan astrositoma difus (WHO grade II) dengan astrosITosis, namun sensitivitas masih rendah.
Frequent IDH1/2 mutations in intracranial chondrosarcoma: a possible diagnostic clue for its differentiation from chordoma
TL;DR: In this paper, the IDH1/2 mutation status of intracranial chondrosarcomas and chordomas was investigated, which are morphologically similar and affect similar regions of the cranial cavity.
References
More filters
Journal ArticleDOI
The 2007 WHO Classification of Tumours of the Central Nervous System
David N. Louis,Hiroko Ohgaki,Otmar D. Wiestler,Webster K. Cavenee,Peter C. Burger,Anne Jouvet,Bernd W. Scheithauer,Paul Kleihues +7 more
TL;DR: The fourth edition of the World Health Organization (WHO) classification of tumours of the central nervous system, published in 2007, lists several new entities, including angiocentric glioma, papillary glioneuronal tumour, rosette-forming glioneurs tumour of the fourth ventricle, Papillary tumourof the pineal region, pituicytoma and spindle cell oncocytoma of the adenohypophysis.
Journal ArticleDOI
An Integrated Genomic Analysis of Human Glioblastoma Multiforme
D. Williams Parsons,Siân Jones,Xiaosong Zhang,Jimmy Lin,Rebecca J. Leary,Philipp Angenendt,Parminder Mankoo,Hannah Carter,I-Mei Siu,Gary L. Gallia,Alessandro Olivi,Roger E. McLendon,B.K. Ahmed Rasheed,Stephen T. Keir,Tatiana Nikolskaya,Yuri Nikolsky,Dana A. Busam,Hanna Tekleab,Luis A. Diaz,James Hartigan,Doug R. Smith,Robert L. Strausberg,Suely Kazue Nagahashi Marie,Sueli Mieko Oba Shinjo,Hai Yan,Gregory J. Riggins,Darell D. Bigner,Rachel Karchin,Nick Papadopoulos,Giovanni Parmigiani,Bert Vogelstein,Victor E. Velculescu,Kenneth W. Kinzler +32 more
TL;DR: Recurrent mutations in the active site of isocitrate dehydrogenase 1 (IDH1) occurred in a large fraction of young patients and in most patients with secondary GBMs and were associated with an increase in overall survival.
Book
WHO classification of tumours of the central nervous system
TL;DR: The current edition of the WHO Classification of Tumours of the Central Nervous System will serve as an indispensable textbook for all of those involved in the diagnosis and management of patients with tumors of the CNS, and will make a valuable addition to libraries in pathology, radiology, oncology, and neurosurgery departments.
Journal ArticleDOI
Genetic Pathways to Primary and Secondary Glioblastoma
Hiroko Ohgaki,Paul Kleihues +1 more
TL;DR: Primary and secondary glioblastomas constitute distinct disease subtypes, affecting patients of different age and developing through different genetic pathways, and differ significantly in their pattern of promoter methylation and in expression profiles at RNA and protein levels.
Journal ArticleDOI
Population-based studies on incidence, survival rates, and genetic alterations in astrocytic and oligodendroglial gliomas.
Hiroko Ohgaki,Paul Kleihues +1 more
TL;DR: Data is summarized on incidence rates, survival, and genetic alterations from population-based studies of astrocytic and oligodendrogliomas that were carried out in the Canton of Zurich, Switzerland to suggest that the acquisition of TP53 mutations in these glioblastoma subtypes may occur through different mechanisms.
Related Papers (5)
IDH1 and IDH2 Mutations in Gliomas
Hai Yan,D. Williams Parsons,Genglin Jin,Roger E. McLendon,B.K. Ahmed Rasheed,Weishi Yuan,Ivan Kos,Ines Batinic-Haberle,Siân Jones,Gregory J. Riggins,Henry S. Friedman,Allan H. Friedman,David A. Reardon,James E. Herndon,Kenneth W. Kinzler,Victor E. Velculescu,Bert Vogelstein,Darell D. Bigner +17 more
An Integrated Genomic Analysis of Human Glioblastoma Multiforme
D. Williams Parsons,Siân Jones,Xiaosong Zhang,Jimmy Lin,Rebecca J. Leary,Philipp Angenendt,Parminder Mankoo,Hannah Carter,I-Mei Siu,Gary L. Gallia,Alessandro Olivi,Roger E. McLendon,B.K. Ahmed Rasheed,Stephen T. Keir,Tatiana Nikolskaya,Yuri Nikolsky,Dana A. Busam,Hanna Tekleab,Luis A. Diaz,James Hartigan,Doug R. Smith,Robert L. Strausberg,Suely Kazue Nagahashi Marie,Sueli Mieko Oba Shinjo,Hai Yan,Gregory J. Riggins,Darell D. Bigner,Rachel Karchin,Nick Papadopoulos,Giovanni Parmigiani,Bert Vogelstein,Victor E. Velculescu,Kenneth W. Kinzler +32 more
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
Lenny Dang,David W. White,Stefan Gross,Bryson D. Bennett,Mark A. Bittinger,Edward M. Driggers,Valeria Fantin,Hyun Gyung Jang,Shengfang Jin,Marie C. Keenan,Kevin Marks,Robert M. Prins,Patrick S. Ward,Katharine E. Yen,Linda M. Liau,Joshua D. Rabinowitz,Lewis C. Cantley,Craig B. Thompson,Matthew G. Vander Heiden,Matthew G. Vander Heiden,Shinsan M. Su +20 more
Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma.
Houtan Noushmehr,Daniel J. Weisenberger,Kristin Diefes,Heidi S. Phillips,Kanan Pujara,Benjamin P. Berman,Fei Pan,Christopher E. Pelloski,Erik P. Sulman,Krishna P. Bhat,Roel G.W. Verhaak,Roel G.W. Verhaak,Katherine A. Hoadley,D. Neil Hayes,Charles M. Perou,Heather Schmidt,Li Ding,Richard K. Wilson,David Van Den Berg,Hui Shen,Henrik Bengtsson,Pierre Neuvial,Leslie Cope,Jonathan D. Buckley,James G. Herman,Stephen B. Baylin,Peter W. Laird,Kenneth Aldape +27 more