IDH1 mutation, a genetic alteration associated with adult gliomatosis cerebri

Neuropathology

Volumn 32, Issue 1, 2012, Pages 30-37

  Narasimhaiah, Deepti ^a   Miquel, Catherine ^b   Verhamme, Elisabeth ^a   Desclée, Paul ^a   Cosnard, Guy ^a   Godfraind, Catherine ^a  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^b CENTRE HOSPITALIER SAINTE ANNE   (France)

Author keywords

1p 19q deletion; Glioma; Gliomatosis cerebri; IDH1; Pediatric

Indexed keywords

ISOCITRATE DEHYDROGENASE; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE ISOENZYME; PROTEIN; PROTEIN P53; R132H PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 19P; CHROMOSOME 1P; CHROMOSOME DELETION; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GLIOMA; GLIOMATOSIS CEREBRI; GLIOSIS; HUMAN; HUMAN TISSUE; MALE; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; BRAIN NEOPLASMS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; ISOCITRATE DEHYDROGENASE; MALE; MIDDLE AGED; MUTATION; NEOPLASMS, NEUROEPITHELIAL; YOUNG ADULT;

EID: 84855970263     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2011.01216.x     Document Type: Article

References (45)

1. Fuller GN, Kros JM. Gliomatosis cerebri. In: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, eds. WHO Classification of Tumours of the Central Nervous System. Lyon: IARC, 2007; 50-52.
2. Peretti-Viton P, Brunel H, Chinot O etal. Histological and MR correlations in Gliomatosis cerebri. J Neurooncol 2002; 59: 249-259.
3. Tancredi A, Mangiola A, Guiducci A, Peciarolo A, Ottaviano P. Oligodendrocytic gliomatosis cerebri. Acta Neurochir (Wien) 2000; 142: 469-472.
4. Jennings MT, Frenchman M, Shehab T etal. Gliomatosis cerebri presenting as intractable epilepsy during early childhood. J Child Neurol 1995; 10: 37-45.
5. Landi A, Piccirilli M, Mancarella C, Giangaspero F, Salvati M. Gliomatosis cerebri in young patients' report of three cases and review of the literature. Childs Nerv Syst 2011; 24: 19-25.
6. Armstrong GT, Phillips PC, Rorke-Adams LB, Judkins AR, Localio AR, Fisher MJ. Gliomatosis cerebri: 20 years of experience at the Children's Hospital of Philadelphia. Cancer 2006; 107: 1597-1606.
7. Parsons DW, Jones S, Zhang X etal. An integrated genomic analysis of human glioblastoma multiforme. Science 2008; 321: 1807-1812.
8. Yan H, Parsons DW, Jin G etal. IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009; 360: 765-773.
9. Balss J, Meyer J, Mueller W, Korshunov A, Hartmann C, von Deimling A. Analysis of the IDH1 codon 132 mutation in brain tumors. Acta Neuropathol 2008; 116: 597-602.
10. De Carli E, Wang X, Puget S. IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009; 360: 2248; author reply 2249.
11. Paugh BS, Qu C, Jones C etal. Integrated molecular genetic profiling of paediatric high-grade gliomas reveals key differences with the adult disease. J Clin Oncol 2010; 28: 3061-3068.
12. Antonelli M, Buttarelli FR, Arcella A etal. Prognostic significance of histological grading, p53 status, YKL-40 expression, and IDH1 mutations in paediatric high-grade gliomas. J Neurooncol 2010; 99: 209-215.
13. Watanabe T, Nobusawa S, Kleihues P, Ohgaki H. IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas. Am J Pathol 2009; 174: 1149-1153.
14. Hartmann C, Meyer J, Balss J etal. Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1, 010 diffuse gliomas. Acta Neuropathol 2009; 118: 469-474.
15. Seiz M, Tuettenberg J, Meyer J etal. Detection of IDH1 mutations in gliomatosis cerebri, but only in tumors with additional solid component: evidence for molecular subtypes. Acta Neuropathol 2010; 120: 261-267.
16. Desclée P, Rommel D, Hernalsteen D, Godfraind C, de Coene B, Cosnard G. Gliomatosis cerebri, imaging findings of 12 cases. J Neuroradiol 2010; 37: 148-158.
17. Perry A, Aldape KD, George DH, Burger PC. Small cell astrocytoma: an aggressive variant that is clinicopathologically and genetically distinct from anaplastic oligodendroglioma. Cancer 2004; 101: 2318-2326.
18. Godfraind C, Rousseau E, Ruchoux MM, Scaravilli F, Vikkula M. Tumour necrosis and microvascular proliferation are associated with 9p deletion and CDKN2A alterations in 1p/19q-deleted oligodendrogliomas. Neuropathol Appl Neurobiol 2003; 29: 462-471.
19. Horbinski C, Kofler J, Kelly LM, Murdoch GH, Nikiforova MN. Diagnostic use of IDH1/2 mutation analysis in routine clinical testing of formalin-fixed, paraffin-embedded glioma tissues. J Neuropathol Exp Neurol 2009; 68: 1319-1325.
20. Frezza C, Tennant DA, Gottlieb E. IDH1 mutations in gliomas: when an enzyme loses its grip. Cancer Cell 2010; 17: 7-9.
21. Noushmehr H, Weisenberger DJ, Diefes K etal. Cancer Genome Atlas Research Network. Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma. Cancer Cell 2010; 17: 510-522.
22. Fu Y, Huang R, Du J, Yang R, An N, Liang A. Glioma-derived mutations in IDH: from mechanism to potential therapy. Biochem Biophys Res Commun 2010; 397: 127-130.
23. Zhao S, Lin Y, Xu W etal. Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha. Science 2009; 324: 261-265.
24. Dang L, White DW, Gross S etal. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 2009; 462: 739-744.
25. Aghili M, Zahedi F, Rafiee E. Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neurooncol 2009; 91: 233-236.
26. Nevin S. Gliomatosis cerebri. Brain 1938; 61: 170-191.
27. Zülch KJ. Histological Typing of Tumours of the Central Nervous System. Geneva, Switzerland: World Health Organization, 1979.
28. Kleihues P, Burger PC, Scheithauer BW. The new WHO classification of brain tumours. Brain Pathology 1993; 3: 255-268.
29. Lantos PL, Bruner JM. Gliomatosis cerebri. In: Kleihues P, Cavenee WK, eds. Pathology and Genetics of Tumours of the Nervous System. Lyon: IARC Press, 2000; 92-93.
30. Herrlinger U, Felsberg J, Küker W etal. Gliomatosis cerebri: molecular pathology and clinical course. Ann Neurol 2002; 52: 390-399.
31. Mawrin C, Kirches E, Schneider-Stock R etal. Analysis of TP53 and PTEN in gliomatosis cerebri. Acta Neuropathol 2003; 105: 529-536.
32. Kros JM, Zheng P, Dinjens WN, Alers JC. Genetic aberrations in gliomatosis cerebri support monoclonal tumorigenesis. J Neuropathol Exp Neurol 2002; 61: 806-814.
33. Mawrin C. Molecular genetic alterations in gliomatosis cerebri: what can we learn about the origin and course of the disease? Acta Neuropathol 2005; 110: 527-536.
34. Romeike BF, Mawrin C. Gliomatosis cerebri: growing evidence for diffuse gliomas with wide invasion. Expert Rev Neurother 2008; 8: 587-597.
35. Min HS, Kim B, Park SH. Array-based comparative genomic hybridization and immunohistochemical studies in gliomatosis cerebri. J Neurooncol 2008; 90: 259-266.
36. Ducray F, Crinière E, Idbaih A etal. alpha-Internexin expression identifies 1p19q codeleted gliomas. Neurology 2009; 72: 156-161.
37. Dougherty MJ, Santi M, Brose MS etal. Activating mutations in BRAF characterize a spectrum of paediatric low-grade gliomas. Neuro Oncol 2010; 12: 621-630.
38. Reitman Z, Yan H. IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009; 360: 2248; author reply 2249.
39. Pollack IF, Hamilton RL, Sobol RW etal. IDH1 mutations are common in malignant gliomas arising in adolescents: a report from the Children's Oncology Group. Childs Nerv Syst 2011; 27: 87-94.
40. Taillibert S, Chodkiewicz C, Laigle-Donadey F, Napolitano M, Cartalat-Carel S, Sanson M. Gliomatosis cerebri: a review of 296 cases from the ANOCEF database and the literature. J Neurooncol 2006; 76: 201-205.
41. Korshunov A, Meyer J, Capper D etal. Combined molecular analysis of BRAF and IDH1 distinguishes pilocytic astrocytoma from diffuse astrocytoma. Acta Neuropathol 2009; 118: 401-405.
42. Gravendeel LA, Kloosterhof NK, Bralten LB etal. Segregation of non-p.R132H mutations in IDH1 in distinct molecular subtypes of glioma. Hum Mutat 2010; 31: E1186-E1199.
43. Ichimura K, Pearson DM, Kocialkowski S etal. IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomas. Neuro Oncol 2009; 11: 341-347.
44. Nakamura M, Shimada K, Ishida E etal. Molecular pathogenesis of paediatric astrocytic tumors. Neuro Oncol 2007; 9: 113-123.
45. 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.