Overview and recent advances in neuropathology.part 1: Central nervous system tumours

Pathology

Volumn 43, Issue 2, 2011, Pages 88-92

  Robertson, Thomas ^a   Koszyca, Barbara ^b   Gonzales, Michael ^c,d  

^a ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c ROYAL MELBOURNE HOSPITAL   (Australia)

^d NeuroPath Laboratory   (Australia)

Author keywords

Brain cancerpropagating cells; Central nervous system; Glial tumours; Glioblastoma; Glioma stem cells; Glioneuronal tumours; IDH 1 gene; Medulloblastoma; MGMT gene; Molecular genetics; Neuropathology; Oligodendroglial tumours; Pinealparenchymal tumours; WHO classification of tumours

Indexed keywords

DNA METHYLTRANSFERASE; IDH1 PROTEIN, HUMAN; ISOCITRATE DEHYDROGENASE; MGMT PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; TUMOR SUPPRESSOR PROTEIN;

ASTROCYTOMA; BRAIN TUMOR; CANCER STEM CELL; CHROMOSOME 1; CHROMOSOME 19; CHROMOSOME ABERRATION; CLASSIFICATION; GENE SILENCING; GENETICS; HUMAN; MOLECULAR BIOLOGY; MOLECULAR PATHOLOGY; MUTATION; OLIGODENDROGLIOMA; PATHOLOGY; REVIEW; WORLD HEALTH ORGANIZATION;

ASTROCYTOMA; BRAIN NEOPLASMS; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 19; DNA MODIFICATION METHYLASES; DNA REPAIR ENZYMES; GENE SILENCING; HUMANS; ISOCITRATE DEHYDROGENASE; MOLECULAR BIOLOGY; MUTATION; NEOPLASTIC STEM CELLS; OLIGODENDROGLIOMA; PATHOLOGY, MOLECULAR; TUMOR SUPPRESSOR PROTEINS; WORLD HEALTH ORGANIZATION;

EID: 79955963363     PISSN: 00313025     EISSN: 14653931     Source Type: Journal    
DOI: 10.1097/PAT.0b013e3283426e86     Document Type: Review

References (61)

1. Brat DJ,parisi JE, Kleinschmidt-DeMasters BK, et al. Surgical neuropathology update: a review of changes introduced by the WHO Classification of Tumours of the Central Nervous System. 4th ed. Archpathol Lab Med 2008; 132: 993-1007. (Pubitemid 351918708)
2. Rousseau A, Mokhtari K, Duyckaerts C. The 2007 WHO Classification of Tumours of the Central Nervous System - what has changed? Curr Opin Neurol 2008; 21: 720-7.
3. Varletp, Soni D, Miguel C, et al. New variants of malignant glioneuronal tumors: a clinicoPathological study of 40 cases. Neurosurgery 2004; 55: 1377-91.
4. Franke FE, Schachenmayr W, Osborn M, Altmannsberger M. Unexpected immunoreactivities of intermediate filament antibodies in human brain tumors. Am J Pathol 1991; 139: 67-79.
5. Hirato J, Nakazato Y, Ogawa A. Expression of non-glial intermediate filamentproteins in gliomas. Clin Neuropathol 1994; 13: 1-11. (Pubitemid 24035722)
6. Rodriguez FJ, Scheithauer BW,port JD. Unusual malignant glioneuronal tumors of the cerebrum of adults: a clinicoPathologic study of three cases. Acta Neuropathol 2006; 112: 727-37. (Pubitemid 44615033)
7. Cairncross JG, Macdonald DR. Successful chemotherapy for recurrent malignant oligodendroglioma. Ann Neurol 1988; 23: 360-4. (Pubitemid 18098242)
8. Quinn JA, Reardon DA, Friedman AH, et al.Phase 1 trial of irinotecanplus BCNU inpatients withprogressive or recurrent malignant glioma. Neuro Oncol 2004; 6: 145-53. (Pubitemid 38455761)
9. van den Bent MJ. Interobserver variation of histoPathological diagnosis in clinical trials on glioma: a clinician'sperspective. Acta Neuropathol 2010; 120: 297-304.
10. BurgerpC. Grading: which tumours? Brainpathol 2010; (Suppl 1): 6.
11. Giangaspero F, Rigobello L, Badiali M, et al. Large-cell medulloblastomas. A distinct variant with highly aggressive behaviour. Am J Surgpathol 1992; 16: 687-93.
12. Brown HG, Kepner JL,perlman EJ, et al. 'Large cell/anaplastic' medulloblastomas: apediatric Oncology Group Study. J Neuropathol Exp Neurol 2000; 59: 857-65.
13. Lamont JM, McManamy CS,Pearson AD, Clifford SC, Ellison DW. Combined histoPathological and molecular cytogenetic stratification of medulloblastomapatients. Clin Cancer Res 2004; 10: 5482-93. (Pubitemid 39100486)
14. Ellison DW, Onilude OE, Lindsey JC, et al. beta-Catenin statuspredicts a favourable outcome in childhood medulloblastoma: the United Kingdom Children's Cancer Study Group Brain Tumour Committee. J Clin Oncol 2005; 23: 7951-7. (Pubitemid 46657395)
15. Jouvet A, Saint-Pierre G, Fauchon F, et al.pinealparenchymal tumors: a correlation of histological features withprognosis in 66 cases. Brainpathol 2000; 10: 49-60. (Pubitemid 30056393)
16. Murali R, Scheithauer BW, Chaseling RW, et al.papillary tumour of thepineal region: cytological features and implications for intraoperative diagnosis.pathology 2010; 42: 474-8.
17. Hadjipanayis CG, Van Meir EG. Brain cancerpropagating cells: biology, genetics and targeted therapies. Trends Mol Med 2009; 14: 519-30.
18. Hadjipanayis CG, Van Meir EG. Tumour initiating cells in malignant gliomas:biology and implications for therapy. J Mol Med 2009; 87: 363-74.
19. Bachioo RM, Maher EA, Ligon KL, et al. Epidermal growth factor receptor and Ink4a/Arf: convergent mechanisms governing terminal differentiation and transformation along the neural stem cell to astrocyte axis. Cancer Cell 2002; 1: 269-77. (Pubitemid 41039151)
20. Oren M. Decision making byp53: life, death and cancer. Cell Death Differ 2003; 10: 431-42. (Pubitemid 36626355)
21. Yin S, Van Meir EG.p53pathway alterations in brain tumours. In: Van Meir EG, editor. CNS Cancer: Models, Markers,prognostic Factors, Targets and Therapeutic Approaches. 1st ed. New York: Humanapress (Springer), 2009; 283-314; 6
22. Watanabe K, Tachibana O, Sato K, et al. Overexpression of the EGFR receptor andp53 mutations are mutually exclusive in the evolution ofprimary and secondary glioblastomas. Brainpathol 1996; 6: 217-24. (Pubitemid 26246377)
23. Ohgaki H, Dessenp, Jourde B, Horstmann S, et al. Geneticpathways to.glioblastoma: apopulation-based study. Cancer Res 2004; 64: 6892-9.
24. The Cancer Genome Atlas Research Network. Comprehensive genomic characterization defines human glioblastoma genes and corepathways. Nature 2008; 455: 1061-68.
25. Frederick L, Eley G, Wang XY, James CD. Analysis of genomic rearrangements associated with EGFRvIII expression suggests involvenment of Alu repeat elements. Neuro-oncology 2000; 2: 139-216.
26. Van Meir EG, Hadjipanayis CG, Norden A, et al. Exciting new advances in neuro-oncology: the avenue to a cure for malignant glioma. CA Cancer J Clin 2010; 60: 166-93.
27. Veerhaak RGW, Hoadley KA,purdom E, et al. An integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities inpDGFRA, IDH1, EGFR and NF1. Cancer Cell 2010; 17: 98-110.
28. Bello MJ, LeonepE, Vaquero J, De Campos J, et al. Allelic loss at 1p and 19q frequently occurs in association and may represent early oncogeneic events in oligodendroglial tumours. Int J Cancer 1995; 64: 207-10.
29. Cairncross G, Ueki K, Zlatescu MC, Lisle DK, et al. Specific chromosomal lossespredict chemotherapeutic response and survival inpatients with anaplastic oligodendrogliomas. J Natl Cancer Inst 1998; 90: 1473-9. (Pubitemid 28482012)
30. Smith JS, Aldrete B, Minn Y, Borell TJ, et al. Localization of common deletion regions on 1p and 19q in human gliomas and their association with histological subtype. Oncogene 1999; 18: 4144-52. (Pubitemid 29363922)
31. Bigner SH, Mathews MR, Rasheed BK, et al. Molecular genetic aspects of oligodendrogliomas including analysis by comparative genomic hybridization. Am J Pathol 1999; 155: 375-86. (Pubitemid 29370388)
32. Smith JS,perry A, Borell TJ, et al. Alterations of chromosome arms 1p and 19q aspredictors of survival in oligodendrogliomas, astrocytomas and mixed oligoastrocytomas. J Clin Oncol 2000; 18: 636-45. (Pubitemid 30078545)
33. Ino Y, Zlatescu MC, Sasaki H, et al. Longpatient survival and therapeutic responses in histologically disparate high grade gliomas with chromosome 1p loss. J Neurosurg 2000; 92: 983-90. (Pubitemid 30346517)
34. Bauman GS, Ino Y, Veki K, et al. Allelic loss ofchromosome 1p and radiotherapyplus chemotherapy inpatients with oligodendrogliomas. Int J Radiat Oncol Biolphys 2000; 48: 625-830.
35. Gelpi E, Ambros IM, BirnerP, et al. Fluorescent in situ hybridization on isolated tumour cell nuclei: a sensitive method for 1p and 19q deletion analysis inparaffin embedded oligodendroglial tumour specimens. Mod pathol 2003; 16: 708-15. (Pubitemid 36871505)
36. Ino Y, Betensky RA, Zlatescu MC, et al. Molecular subtypes of anaplastic oligodendroglioma: implications forpatient management at diagnosis. Clin Cancer Res 2001; 7: 839-45. (Pubitemid 32708719)
37. Buckner JD, Gesme D Jr, O'Fallon JR, et al.Phase II trial ofProcarbazine, Lomustine and Vincristine as initial therapy forpatients with low grade oligodendroglioma or oligoastrocytoma; efficacy and association with chromosomal abnormalities. J Clin Oncol 2003; 21: 251-5. (Pubitemid 46606153)
38. Hoang-Xuan K, Capelle L, Kujas M, et al. Temozolomide as initial treatment for adults with low-grade oligodendrogliomas or oligoastrocytomas and correlation with chromosome 1p deletions. J Clin Oncol 2004; 22: 3133-8. (Pubitemid 41103727)
39. Yip S, Iafrate AJ, Louis DN. Molecular diagnostic testing in malignant gliomas: apractical update onpredictive markers. J Neuropathol Exp Neurol 2008; 67: 1-15.
40. Burton E, Lamborn K, Fenerstein B, et al. Gene aberrations defined by comparative genomic hybridization distinguish long-term from typicalsurvivors of glioblastoma. Cancer Res 2002; 62: 6205-10. (Pubitemid 35244472)
41. Schmidt MC, Antweiler S, Urban N, et al. Impact of genotype and morphology on theprognosis of glioblastoma. J Neuropathol Exp Neurol 2002; 61: 321-8. (Pubitemid 34266783)
42. Bobola MS, Burger MS, Silber JR. Contribution of O6-methylguanine- DNA methyltransferase to resistsnce to 1,3-(2-chloroethyl)-1-nitrosourea in human brain tumour-derived cell lines. Mol Carcinog 2005; 13: 81-8.
43. Silber JR, Mueller BA, Ewers TG, Berger MS. Comparison of O6-methylguanina- DNA methyltransferase activity in brain tumours and adjacent normal brain. Cancer Res 1993; 53: 3416-20. (Pubitemid 23223319)
44. Soejima H, Zhao W, Mukai T. Epigenetic silencing of the MGMT gene in cancer. Biochem Cell Biol 2005; 83: 429-37. (Pubitemid 41626761)
45. Esteller M, Garcia-Foncillas J, Andion E. Inactivation of the DNA repair gene MGMT and the clinical response of gliomas toalkylating agents. N Engl J Med 2000; 343: 1350-4.
46. Kamiryo T, Tada K, Shiraishi S, et al. Correlation betweenpromoter hypermethylation of the O6-methylguanine-deoxyribonucleic acid methyltransferase gene andprognosis inpatients with high grade astrocytic tumors treated with surgery, radiotherapy and 1-(4-amino-2-methyl-5-pyrimidinyl)-methyl-3-(2- chloroethyl)-3-nitrosourea-based chemotherapy. Neurosurgery 2004; 52: 349-435.
47. Hegi ME, Diserens A-C, Godard S. Clinical trial substantiates thepredictive value of O6-methylguanine-DNA methyltransferasepromoter methylation in glioblastoma multiformepatients treated with Temozolamide. Clin Cancer Res 2004; 10: 1871-4. (Pubitemid 38375541)
48. Hegi ME, Diserens A-C, Gorlia T, et al. MGMT silencing and benefit from Temozolamide in glioblastoma. N Engl J Med 2005; 352: 997-1003. (Pubitemid 40349502)
49. Brell M, Tortosa A, Verger E, Gil JM, et al.prognostic significance ofO6- methylguanine-DNA methyltransferase determined bypromoter hypermethylation and immunohistochemical expression in anaplastic gliomas. Clin Cancer Res 2005; 11: 5167-74. (Pubitemid 41003702)
50. Hartmann C, Meyer J, Balss J, Capper D, et al. Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1010 diffuse gliomas. Acta Neuropathol 2009; 118: 469-74.
51. Yan H,parsons DW, Jin G, McLendon R, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009; 360: 765-73.
52. Labussiere M, Idbaih M, Wang XW, Marie Y, et al. All the 1p19q codeleted gliomas are mutated on IDH1 or IDH2. Neurology 2010; 74: 1886-90.
53. Capper D, Weissert S, Balss J, Habel A, et al. Characterization of R132H mutationspecific IDH1 antibody binding in brain tumors. Brainpathol 2010; 20: 245-54.
54. Capper D, Sahm F, Hartmann C, Meyermann R, et al. Application of mutant IDH1 antibody to differentiate diffuse glioma from non-neoplastic central nervous system lesions and therapy-induced changes. Am J Surgpathol 2010; 34: 1199-204.
55. Singh SK, Clarke ID, Terasaki M, Bonn VE, et al. Identification of a cancer stem cell in human brain tumors. Cancer Res 2003; 63: 5821-8. (Pubitemid 37187480)
56. Weigmann A, Corbeil D, Hellwig A, Huttner WB, et al.prominin, a novel microvillispecificpolytopic membraneprotein of the apical surface of epithelial cells, is targeted toplasmalemmalprotrusions of non-epithelial cells.Proc Natl Acad Sci USA 1997; 94: 12425-30. (Pubitemid 27492544)
57. Denysenko T, Gennero L, Roos MA, Melcarne A, et al. Glioblastoma cancer stem cells: heterogeneity, microenvironment and related therapeutic strategies. Cell Biochem Funct 2010; 28: 343-51.
58. Beier D, Haup,proescholdt M, Lohmeier A, et al. CD133(+) and CD133(-) glioblastoma-derived cancer stem cells show differential growth characteristics and molecularprofiles. Cancer Res 2007; 67: 4010-5. (Pubitemid 46815044)
59. Xing-gang M, Xiang Z, Xiao-yan X, Geng G, et al. Brain tumour stem like cells identified by neural stem cell marker CD15. Translational Oncol 2009; 2: 247-57.
60. Zeppernick F, Ahmadi R, Campos B, Dictus C, et al. Stem cell marker CD133 affects outcome in gliomapatients. Clin Cancer Res 2008; 14: 123-9. (Pubitemid 351377986)
61. Hartmann C, Mueller W, von Deimling A.pathology and molecular genetics of oligodendroglial tumors. J Mol Med 2004; 82: 638-55. (Pubitemid 39468489)