Selected biomarkers in the primary tumors of the central nervous system: short review

Česká verzia

Authors: M. Švajdler ml. ¹; B. Rychlý ²; L. Fröhlichová ¹; P. Grossmann ³; A. Šteňo ⁴; F. Pataky ⁵
Authors place of work: Oddelenie patológie UNLP Košice, Trieda SNP1 ¹; Cytopathos, spol. s. r. o., Bratislava ²; Bioptická laboratoř, s. r. o., Plzeň ³; Neurochirurgická klinika, Nemocnica akad. L. Dérera, Bratislava ⁴; Neurochirurgická klinika UNLP, Košice ⁵
Published in the journal: Čes.-slov. Patol., 48, 2012, No. 2, p. 65-71
Category: Přehledové články – Neuropatologie

Summary

Classification, grading and treatment of central nervous system tumors is currently based on morphology. Advances in molecular biology help to clarify pathogenesis, refine prognosis and detect potential targets for targeted therapy in a wide spectrum of CNS tumors. In this short review we present our view on selected diagnostic, prognostic and predictive biomarkers of primary CNS tumors, with an emphasis on application in daily praxis.

Keywords:
brain tumors – biomarkers – genetics – immunohistochemistry

Zdroje

1. Esteller M, Garcia-Foncillas J, Andion E, et al. Inactivation of the DNA-repair gene MGMT and the clinical response of gliomas to alkylating agents. N Engl J Med 2000; 343(19): 1350–1354.

2. Hegi ME, Diserens AC, Gorlia T, et al. MGMT gene silencing and benefit from temozolomide in glioblastoma. N Engl J Med 2005; 352(10): 997–1003.

3. Krex D, Klink B, Hartmann C, et al. Long-term survival with glioblastoma multiforme. Brain 2007; 130(10): 2596–2606.

4. Stupp R, Hegi ME, van den Bent MJ, et al. Changing paradigms - an update on the multidisciplinary management of malignant glioma. Oncologist 2006; 11(2): 165–180.

5. Preusser M. MGMT analysis at DNA, RNA and protein levels in glioblastoma tissue. Histol Histopathol 2009; 24(4): 511–518.

6. Parsons DW, Jones S, Zhang X, et al. An integrated genomic analysis of human glioblastoma multiforme. Science 2008; 321(5897): 1807–1812.

7. Yan H, Parsons DW, Jin G, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009; 360(8): 765–773.

8. Zhao S, Lin Y, Xu W, et al. Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha. Science 2009; 324(5924): 261–265.

9. Hartmann C, Hentschel B, Wick W, et al. Patients with IDH1 wild type anaplastic astrocytomas exhibit worse prognosis than IDH1-mutated glioblastomas, and IDH1 mutation status accounts for the unfavorable prognostic effect of higher age: implications for classification of gliomas. Acta Neuropathol 2010; 120(6): 707–718.

10. Kim YH, Nobusawa S, Mittelbronn M, et al. Molecular classification of low-grade diffuse gliomas. Am J Pathol 2010; 177(6): 2708–2714.

11. Mardis ER, Ding L, Dooling DJ, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 2009; 361(11): 1058–1066.

12. Capper D, Sahm F, Hartmann C, et al. Application of mutant IDH1 antibody to differentiate diffuse glioma from nonneoplastic central nervous system lesions and therapy-induced changes. Am J Surg Pathol 2010; 34(8): 1199–1204.

13. Capper D,Weißert S, Balss J, et al. Characterization of R132H mutation specific IDH1 antibody binding in brain tumors. Brain Pathol 2010; 20(1): 245–254.

14. von Deimling A, Korshunov A, Hartman C. The next generation of glioma biomarkers: MGMT methylation, BRAF fusions and IDH1 mutations. Brain Pathology 2011; 21(1): 74–87.

15. Schindler G, Capper D, Meyer J, et al. Analysis of BRAF V600E mutation in 1.320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol 2011; 121(3): 397–405.

16. Capper D, Preusser M, Habel A, et al. Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody. Acta Neuropathol 2011; 122(1): 11–19.

17. Pfister S, Janzarik WG, Remke M, et al. BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas. J Clin Invest 2008; 118(5): 1739–1749.

18. Jones DT, Kocialkowski S, Liu L, et al. Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. Cancer Res 2008; 68(21): 8673–8677.

19. Jones DT, Kocialkowski S, Liu L, Pearson DM, Ichimura K, Collins VP. Oncogenic RAF1 rearrangement and a novel BRAF mutation as alternatives to KIAA1549:BRAF fusion in activating the MAPKpathway in pilocytic astrocytoma. Oncogene 2009; 28(20): 2119–2123.

20. Cin H, Meyer C, Herr R et al. Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma. Acta Neuropathol 2011; 121(6): 763–774.

21. Korshunov A, Meyer J, Capper D, et al. Combined molecular analysis of BRAF and IDH1 distinguishes pilocytic astrocytoma from diffuse astrocytoma. Acta Neuropathol 2009; 118(3): 401–405.

22. Rodriguez EF, Scheithauer BW, Giannini C et al. PI3K/AKT pathway alterations are associated with clinically aggressive and histologically anaplastic subsets of pilocytic astrocytoma. Acta Neuropathol 2011; 121(3): 407–420.

23. Varlet P, Soni D, Miquel C, et al. New variants of malignant glioneuronal tumors: a clinicopathological study of 40 cases. Neurosurgery 2004; 55(6): 1377–1391.

24. Perry A, Miller CR, Scheithauer BW, et al. Malignant gliomas with primitive neuroectodermal tumor-like components: a clinicopathologic and genetic study of 53 cases. Brain Pathol 2009; 19(1): 81–90.

25. Bauman GS, Ino Y, Ueki K, et al. Allelic loss of chromosome 1p and radiotherapy plus chemotherapy in patients with oligodendrogliomas. Int J Radiat Oncol Biol Phys 2000; 48(3): 825–830.

26. Scheie D, Cvancarova M, MŅrk S, et al. Can morphology predict 1p/19q loss in oligodendroglial tumours? Histopathology 2008; 53(5): 578–587.

27. Giannini C, Burger PC, Berkey BA et al. Anaplastic oligodendroglial tumors: refining the correlation among histopathology, 1p 19q deletion and clinical outcome in Intergroup Radiation Therapy Oncology Group Trial 9402. Brain Pathol 2008; 18(3): 360–369.

28. Kreiger PA, Okada Y, Simon S, et al. Losses of chromosomes 1p and 19q are rare in pediatric oligodendrogliomas. Acta Neuropathol 2005; 109(4): 387–392.

29. 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(10): 2318–2326.

30. Prayson RA, Castilla EA, Hartke M et al. Chromosome 1p allelic loss by fluorescence in situ hybridization is not observed in dysembryoplastic neuroepithelial tumors. Am J Clin Pathol 2002; 118(4): 512–517.

31. Mrak RE, Yasargil MG, Mohapatra G, Earel J Jr, Louis DN. Atypical extraventricular neurocytoma with oligodendroglioma like spread and an unusual pattern of chromosome 1p and 19q loss. Hum Pathol 2004; 35(9): 1156–1159.

32. Judkins AR, Eberhart GC, Wesseling P. Atypical teratoid/rhabdoid tumor. In: Louis DN, Ohgaki H, Wiestler OD, Cavenee K, eds. World health organisation classification of tumors. WHO classification of tumors of the central nervous system (4th ed). Lyon, IARC; 2007: 147–149.

33. Hollmann TJ, Hornick JL. INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol 2011; 35(10): 47–63.

34. Gessi M, Giangaspero F, Pietsch T. Atypical teratoid / rhabdoid tumors and choroid plexus tumors: when genetics “surprise” pathology. Brain Pathol 2003; 13(3): 409–414.

35. Schittenhelm J, Nagel C, Meyermann R, Beschorner R. Atypical teratoid/rhabdoid tumors may show morphological and immunohistochemical features seen in choroid plexus tumors. Neuropathology 2011; 31(5): 461–467.

36. Rickert CH, Wiestler OD, Paulus W. Chromosomal imbalances in choroid plexus tumors. Am J Pathol 2002; 160(3): 1105–1113.

37. Ellison WE. Childhood medulloblastoma: novel approaches to the classification of a heterogeneous disease. Acta Neuropathol 2010; 120(3): 305–316.

38. Ellison DW, Kocak M, Dalton J, et al. Definition of disease-risk stratification groups in childhood medulloblastoma using combined clinical, pathologic, and molecular variables. J Clin Oncol 2011; 29(11): 1400–1407.

39. Ellison DW, Dalton J, Kocak M, et al. Medulloblastoma: clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups. Acta Neuropathol 2011; 121(3): 381–396.

40. Rudin CM, Hann CL, Laterra J, et al. Treatment of medulloblastoma with hedgehog pathway inhibitor GDC-0449. N Engl J Med 2009; 361(12): 1173–1178.

41. Pfister S, Remke M, Benner A, et al. Outcome prediction in pediatric medulloblastoma based on DNA copy-number aberrations of chromosomes 6q and 17q and the MYC and MYCN loci. J Clin Oncol 2009; 27(10): 1627–1636.

42. McCabe MG, Bäcklund LM, Leong HS, Ichimura K, Collins VP. Chromosome 17 alterations identify good-risk and poor-risk tumors independently of clinical factors in medulloblastoma. Neuro Oncol 2011; 13(4): 376–383.

43. Korshunov A, Remke M, Werft W, et al. Adult and pediatric medulloblastomas are genetically distinct and require different algorithms for molecular risk stratification. J Clin Oncol 2010; 28(18): 3054–3060.

44. Remke M, Hielscher T, Northcott PA, et al. Adult medulloblastoma comprises three major molecular variants. J Clin Oncol 2011; 29(19): 2717–2723.

45. Colombo PE, Milanezi F, Weigelt B, Reis-Filho JS. Microarrays in the 2010s: the contribution of microarray-based gene expression profiling to breast cancer classification, prognostication and prediction. Breast Cancer Res 2011; 13(3): 212.

46. Colman H, Zhang L, Sulman EP, et al. A multigene predictor of outcome in glioblastoma. Neuro Oncol 2010; 12(1): 49–57.

47. Hide T, Takezaki T, Nakamura H, Kuratsu J, Kondo T. Brain tumor stem cells as research and treatment targets. Brain Tumor Pathol 2008; 25(2): 67–72.

48. Sathornsumetee S, Reardon DA, Desjardins A, Quinn JA, Vredenburgh JJ, Rich JN. Molecularly targeted therapy for malignant glioma. Cancer 2007; 110(1): 13–24.

49. Tol J, Koopman M, Cats A, et al. Chemotherapy, bevacizumab, and cetuximab in metastatic colorectal cancer. N Engl J Med 2009; 360(6): 563–572.