Update on the 2016 WHO classification of tumors of the central nervous system.
Part 2: Embryonal tumors and other tumor groups (except for diffuse gliomas)
Authors:
Josef Zámečník 1; Boris Rychlý 2; Marián Švajdler 3,4
Authors place of work:
Ústav patologie a molekulární medicíny 2. lékařské fakulty UK a FN v Motole, Praha, Česká republika
1; Cytopathos s. r. o., Bratislava, Slovenská republika
2; Šiklův ústav patologie, Univerzita Karlova v Praze, Lékařská fakulta v Plzni a Fakultní nemocnice Plzeň, Česká republika
3; Bioptická laboratoř, s. r. o., Plzeň, Česká republika
4
Published in the journal:
Čes.-slov. Patol., 53, 2017, No. 1, p. 22-28
Category:
Přehledový článek
Summary
The 2016 revision of the WHO classification of tumors of the central nervous system is a conceptual advance over the 2007 classification system. Similarly to the group of diffuse gliomas, a significant shift in the understanding of the molecular background and tumor biology has recently occurred also in the category of embryonal CNS tumors, especially in medulloblastomas. The classification now incorporates new entities that are defined by both histology and molecular features. Updates in the group of gliomas (except for diffuse gliomas), in the meningeal tumors as well as in the tumors of peripheral nerve sheaths will also be discussed.
Keywords:
WHO classification – meduloblastoma – AT/RT – pleomorphic xanthoastrocytoma – pilocytic astrocytoma – peripheral nerve sheath tumors
Zdroje
1. Louis DN et al. World Health Organization classification of tumours of the central nervous system (revised 4th ed). Lyon, IARC, 2016.
2. Batora NV, Sturm D, Jones DT, Kool M, Pfister SM, Northcott PA. Transitioning from genotypes to epigenotypes: why the time has come for medulloblastoma epigenomics. Neuroscience 2014; 264: 171-185.
3. Northcott PA, Jones DT, Kool M, et al. Medulloblastomics: the end of the beginning. Nat Rev Cancer 2012; 12(12): 818-834.
4. Taylor MD, Northcott PA, Korshunov A, et al. Molecular subgroups of medulloblastoma: the current consensus. Acta Neuropathol 2012; 123(4): 465-472.
5. Clifford SC, Lusher ME, Lindsey JC, et al. Wnt/Wingless pathway activation and chromosome 6 loss characterize a distinct molecular sub-group of medulloblastomas associated with a favorable prognosis. Cell Cycle 2006; 5(22): 2666-2670.
6. Kool M, Korshunov A, Remke M, et al. Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas. Acta Neuropathol 2012; 123(4): 473-484.
7. Ellison DW, Onilude OE, Lindsey JC, et al. beta-Catenin status predicts a favorable outcome in childhood medulloblastoma: the United Kingdom Children‘s Cancer Study Group Brain Tumour Committee. J Clin Oncol 2005; 23(31): 7951-7957.
8. Thompson MC, Fuller C, Hogg TL, et al. Genomics identifies medulloblastoma subgroups that are enriched for specific genetic alterations. J Clin Oncol 2006; 24(12): 1924-1931.
9. Kool M, Jones DT, Jager N, et al. Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell 2014; 25(3): 393-405.
10. 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.
11. Northcott PA, Shih DJ, Remke M, et al. Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples. Acta Neuropathol 2012; 123(4): 615-626.
12. Shou Y, Robinson DM, Amakye DD, et al. A five-gene hedgehog signature developed as a patient preselection tool for hedgehog inhibitor therapy in medulloblastoma. Clin Cancer Res 2015; 21(3): 585-593.
13. Pomeroy SL, Tamayo P, Gaasenbeek M, et al. Prediction of central nervous system embryonal tumour outcome based on gene expression. Nature 2002; 415(6870): 436-442.
14. Cho YJ, Tsherniak A, Tamayo P, et al. Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcome. J Clin Oncol 2011; 29(11): 1424-1430.
15. Kool M, Koster J, Bunt J, et al. Integrated genomics identifies five medulloblastoma subtypes with distinct genetic profiles, pathway signatures and clinicopathological features. PLoS One 2008; 3(8): e3088.
16. Biegel JA. Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus 2006; 20(1): E11.
17. Hasselblatt M, Gesk S, Oyen F, et al. Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Am J Surg Pathol 2011; 35(6): 933-935.
18. Judkins AR. Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology. Adv Anat Pathol 2007; 14(5): 335-339.
19. Woehrer A, Slavc I, Waldhoer T, et al. Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996-2006. Cancer 2010; 116(24): 5725-5732.
20. Korshunov A, Sturm D, Ryzhova M, et al. Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity. Acta Neuropathol 2014; 128(2): 279-289.
21. Spence T, Sin-Chan P, Picard D, et al. CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity. Acta Neuropathol 2014; 128(2): 291-303.
22. Jones DT, Hutter B, Jager N, et al. Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet 2013; 45(8): 927-932.
23. Zhang J, Wu G, Miller CP, et al. Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. Nat Genet 2013; 45(6): 602-612.
24. Collins VP, Jones DT, Giannini C. Pilocytic astrocytoma: pathology, molecular mechanisms and markers. Acta Neuropathol 2015; 129(6): 775-788.
25. Tihan T, Fisher PG, Kepner JL, et al. Pediatric astrocytomas with monomorphous pilomyxoid features and a less favorable outcome. J Neuropathol Exp Neurol 1999; 58(10): 1061-1068.
26. Ida CM, Rodriguez FJ, Burger PC, et al. Pleomorphic Xanthoastrocytoma: Natural History and Long-Term Follow-Up. Brain Pathol 2015; 25(5): 575-586.
27. Schmidt Y, Kleinschmidt-DeMasters BK, Aisner DL, Lillehei KO, Damek D. Anaplastic PXA in adults: case series with clinicopathologic and molecular features. J Neurooncol 2013; 111(1): 59-69.
28. Ellison DW, Kocak M, Figarella-Branger D, et al. Histopathological grading of pediatric ependymoma: reproducibility and clinical relevance in European trial cohorts. J Negat Results Biomed 2011; 10: 7.
29. Godfraind C. Classification and controversies in pathology of ependymomas. Childs Nerv Syst 2009; 25(10): 1185-1193.
30. Mack SC, Witt H, Piro RM, et al. Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. Nature 2014; 506(7489): 445-450.
31. Pajtler KW, Witt H, Sill M, et al. Molecular Classification of ependymal tumors across all CNS compartments, histopathological grades, and age groups. Cancer Cell 2015; 27(5): 728-743.
32. Witt H, Mack SC, Ryzhova M, et al. Delineation of two clinically and molecularly distinct subgroups of posterior fossa ependymoma. Cancer Cell 2011; 20(2): 143-157.
33. Parker M, Mohankumar KM, Punchihewa C, et al. C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in ependymoma. Nature 2014; 506(7489): 451-455.
34. Huse JT, Edgar M, Halliday J, Mikolaenko I, Lavi E, Rosenblum MK. Multinodular and vacuolating neuronal tumors of the cerebrum: 10 cases of a distinctive seizure-associated lesion. Brain Pathol 2013; 23(5): 515-524.
35. Rodriguez FJ, Perry A, Rosenblum MK, et al. Disseminated oligodendroglial-like leptomeningeal tumor of childhood: a distinctive clinicopathologic entity. Acta Neuropathol 2012; 124(5): 627-641.
36. Carney JA. Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome. Am J Surg Pathol 1990; 14(3): 206-222.
37. Harder A, Wesemann M, Hagel C, et al. Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients. Am J Surg Pathol 2012; 36(5): 702-709.
38. Kacerovská D, Michal M, Kuroda N, et al. Hybrid peripheral nerve sheath tumors, including a malignant variant in type 1 neurofibromatosis. Am J Dermatopathol 2013; 35(6): 641-649.
39. Jo VY, Fletcher CD. Epithelioid malignant peripheral nerve sheath tumor: clinicopathologic analysis of 63 cases. Am J Surg Pathol 2015; 39(5): 673-682.
40. Hirose T, Scheithauer BW, Sano T. Perineurial malignant peripheral nerve sheath tumor (MPNST): a clinicopathologic, immunohistochemical, and ultrastructural study of seven cases. Am J Surg Pathol 1998; 22(11): 1368-1378.
41. Rosenberg AS, Langee CL, Stevens GL, Morgan MB. Malignant peripheral nerve sheath tumor with perineurial differentiation: „malignant perineurioma“. J Cutan Pathol 2002; 29(6): 362-367.
Štítky
Patológia Súdne lekárstvo ToxikológiaČlánok vyšiel v časopise
Česko-slovenská patologie
2017 Číslo 1
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