Detection of IDH1 mutation in the plasma of patients with glioma

Neurology

Volumn 79, Issue 16, 2012, Pages 1693-1698

  Boisselier, Blandine ^a,b,c   Pérez Larraya, Jaime Gállego ^d   Rossetto, Marta ^a,b,c,e   Labussière, Marianne ^a,b,c   Ciccarino, Pietro ^a,b,c,e   Marie, Yannick ^f   Delattre, Jean Yves ^a,b,c,e   Sanson, Marc ^a,b,c,e  

^a SORBONNE UNIVERSITÉ   (France)

^b INSERM   (France)

^c CNRS   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e UNIVERSITY OF PADOVA   (Italy)

^f INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; HISTIDINE; ISOCITRATE DEHYDROGENASE 1;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BASE PAIRING; BLOOD SAMPLING; CANCER PATIENT; CANCER PROGNOSIS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE SEVERITY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GLIOMA; HISTOPATHOLOGY; HUMAN; LOW TEMPERATURE; MAJOR CLINICAL STUDY; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PLASMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DENATURATION; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR LOCALIZATION; TUMOR VOLUME;

EID: 84871250894     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31826e9b0a     Document Type: Article

References (23)

1. Ludwig JA, Weinstein JN. Biomarkers in cancer staging, prognosis and treatment selection. Nat Rev Cancer 2005; 5:845-856.
2. Schwarzenbach H, Chun FK, Isbarn H, Huland H, Pantel K. Genomic profiling of cell-free DNA in blood and bone marrow of prostate cancer patients. J Cancer Res Clin Oncol 2010;137:811-819.
3. Diehl F, Li M, Dressman D, et al. Detection and quantification of mutations in the plasma of patients with colorectal tumors. Proc Natl Acad Sci USA 2005;102:16368-16373.
4. Schwarzenbach H, Hoon DS, Pantel K. Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer 2011;11:426-437.
5. Alix-Panabieres C, Schwarzenbach H, Pantel K. Circulating tumor cells and circulating tumor DNA. Annu Rev Med 2012;63:199-215.
6. Weaver KD, Grossman SA, Herman JG. Methylated tumor-specific DNA as a plasma biomarker in patients with glioma. Cancer Invest 2006;24:35-40.
7. Lavon I, Refael M, Zelikovitch B, Shalom E, Siegal T. Serum DNA can define tumor-specific genetic and epigenetic markers in gliomas of various grades. Neuro Oncol 2011;12:173-180.
8. Balana C, Carrato C, Ramirez JL, et al. Tumour and serum MGMT promoter methylation and protein expression in glioblastoma patients. Clin Transl Oncol 2011;13:677-685.
9. Parsons DW, Jones S, Zhang X, et al. An integrated genomic analysis of human glioblastoma multiforme. Science 2008;321:1807-1812.
10. Sanson M, Marie Y, Paris S, et al. Isocitrate dehydrogenase 1 codon 132 mutation is an important prognostic biomarker in gliomas. J Clin Oncol 2009;27:4150-4154.
11. van den Bent MJ, Dubbink HJ, Marie Y, et al. IDH1 and IDH2 mutations are prognostic but not predictive for outcome in anaplastic oligodendroglial tumors: a report of the European Organization for Research and Treatment of Cancer Brain Tumor Group. Clin Cancer Res 2010;16: 1597-1604.
12. Bleeker FE, Lamba S, Leenstra S, et al. IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in highgrade gliomas but not in other solid tumors. Hum Mutat 2009;30:7-11.
13. Nobusawa S, Watanabe T, Kleihues P, Ohgaki H. IDH1 mutations as molecular signature and predictive factor of secondary glioblastomas. Clin Cancer Res 2009;15:6002-6007.
14. Li J, Wang L, Mamon H, Kulke MH, Berbeco R, Makrigiorgos GM. Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing. Nat Med 2008;14:579-584.
15. Vogelstein B, Kinzler KW. Digital PCR. Proc Natl Acad Sci USA 1999;96:9236-9241.
16. Boisselier B, Marie Y, Labussiere M, et al. COLD PCR HRM: a highly sensitive detection method for IDH1 mutations. Hum Mutat 2010;31:1360-1365.
17. Fleischhacker M, Schmidt B, Weickmann S, et al. Methods for isolation of cell-free plasma DNA strongly affect DNA yield. Clin Chim Acta 2011;412:2085-2088.
18. Jahr S, Hentze H, Englisch S, et al. DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells. Cancer Res 2001;61:1659-1665.
19. Gormally E, Caboux E, Vineis P, Hainaut P. Circulating free DNA in plasma or serum as biomarker of carcinogenesis: practical aspects and biological significance. Mutat Rev 2007;635:105-117.
20. Sozzi G, Conte D, Leon M, et al. Quantification of free circulating DNA as a diagnostic marker in lung cancer. J Clin Oncol 2003;21:3902-3908.
21. Pope W, Prins R, Albert Thomas M, et al. Non-invasive detection of 2-hydroxyglutarate and other metabolites in IDH1: mutant glioma patients using magnetic resonance spectroscopy. J Neurooncol 2012;107:197-205.
22. Andronesi OC, Kim GS, Gerstner E, et al. Detection of 2-hydroxyglutarate in IDH-mutated glioma patients by in vivo spectral-editing and 2D correlation magnetic resonance spectroscopy. Sci Transl Med 2012;4:116ra4.
23. Choi C, Ganji SK, Deberardinis RJ, et al. 2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDHmutated patients with gliomas. Nat Med 2012;18:624-629.