News in WHO 2021 classification of tumours of the central nervous system
Authors:
Tomáš Jirásek 1; Lenka Krsková 2; Iva Dolinová 3; Marián Švajdler 4; Aleš Vícha 5; Markéta Hermanová 6; Josef Zámečník 2
Authors place of work:
Oddělení patologie, Centrum PATOS, Krajská nemocnice Liberec, a. s.
1; Ústav patologie a molekulární medicíny 2. LF UK a Fakultní nemocnice Motol, Praha
2; Oddělení molekulární genetiky a diagnostiky, Centrum PATOS, Krajská nemocnice Liberec, a. s.
3; Šiklův ústav patologie, Lékařská fakulta Univerzity Karlovy v Plzni a Fakultní nemocnice Plzeň a Bioptická laboratoř, s. r. o., Plzeň
4; Klinika dětské hematologie a onkologie 2. LF UK a Fakultní nemocnice Motol, Praha
5; I. ústav patologie, LF MU a Fakultní nemocnice u sv. Anny, Brno
6
Published in the journal:
Čes.-slov. Patol., 58, 2022, No. 3, p. 126-134
Category:
Reviews Article
Summary
The aim of the presented communication is to clearly inform the general professional public about the newly approved modifications in this classification, including the newly approved types of tumours. A significant change is the new grading system for these tumours, including the innovative involvement of tumour profiling at the molecular level in the system for determining the degree of tumour differentiation and the application of the principle of integrated diagnostics, i. e. the synthesis of available histopathological and molecular findings in CNS tumors.
Keywords:
Molecular pathology – WHO classification – grading – tumours of the central nervous system
Zdroje
1. WHO Classification of Tumours Editorial Board. World Health Organization Classification of Tumours of the Central Nervous System. 5th ed. Lyon: International Agency for Research on Cancer; 2021.
2. Zulch KJ. Histological Typing of Tumours of the Central Nervous System. Vol. 21. Geneva: World Health Organization; 1979.
3. Kleihues P, Burger PC, Scheithauer BW. Histological Typing of Tumours of the Central Nervous System. Berlin: Springer-Verlag; 1993.
4. Kleihues P, Cavenee WK. World Health Organization Classification of Tumours of the Nervous System. Lyon: WHO/IARC; 2000.
5. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK. World Health Organization Histological Classification of Tumours of the Central Nervous System. 4th ed. Lyon: International Agency for Research on Cancer; 2007.
6. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK. World Health Organization Classification of Tumours of the Central Nervous System. 4th ed., updated ed. Lyon: International Agency for Research on Cancer; 2016.
7. Louis DN, Aldape K, Brat DJ, et al. cIMPACT- NOW (the consortium to inform molecular and practical approaches to CNS tumor taxonomy): a new initiative in advancing nervous system tumor classification. Brain Pathol 2017; 27(6): 851–852.
8. Louis DN, Aldape K, Brat DJ, et al. Announcing cIMPACT-NOW: the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy. Acta Neuropathol 2017; 133(1): 1–3.
9. Louis DN, Giannini C, Capper D, et al. cIMPACT- NOW update 2: diagnostic clarifications for diffuse midline glioma, H3 K27M-mutant and diffuse astrocytoma/anaplastic astrocytoma, IDH-mutant. Acta Neuropathol 2018; 135(4): 639–642.
10. Ellison DW, Hawkins C, Jones DTW, et al. cIMPACT-NOW update 4: diffuse gliomas characterized by MYB, MYBL1, or FGFR1 alterations or BRAFV600E mutation. Acta Neuropathol 2019; 137(4): 683–687.
11. Brat DJ, Aldape K, Colman H, et al. cIMPACT- NOW update 3: recommended diagnostic criteria for “Diffuse astrocytic glioma, IDH-wildtype, with molecular features of glioblastoma, WHO grade IV”. Acta Neuropathol 2018; 136(5): 805–810.
12. Louis DN, Wesseling P, Paulus W, et al. cIMPACT- NOW update 1: Not Otherwise Specified (NOS) and Not Elsewhere Classified (NEC). Acta Neuropathol 2018; 135(3): 481–484.
13. Louis DN, Ellison DW, Brat DJ, et al. cIMPACT- NOW: a practical summary of diagnostic points from Round 1 updates. Brain Pathol 2019; 29(4): 469–472.
14. Louis DN, Wesseling P, Aldape K, et al. cIMPACT- NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT Utrecht meeting on future CNS tumor classification and grading. Brain Pathol 2020; 30(4): 844–856.
15. Brat DJ, Aldape K, Colman H, et al. cIMPACT- NOW update 5: recommended grading criteria and terminologies for IDH-mutant astrocytomas. Acta Neuropathol 2020; 139(3): 603–608.
16. Ellison DW, Aldape KD, Capper D, et al. cIMPACT- NOW update 7: advancing the molecular classification of ependymal tumors. Brain Pathol 2020; 30(5): 863–866.
17. Hendrych M, Valeková H, Kazda T, et al. Integrovaná diagnostika difúzních gliomů. Klin Onkol 2020; 33(4): 248-259.
18. Louis DN, Perry A, Wesseling P, et al. The 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol 2021; 23(8): 1231-1251.
19. Bruford EA, Braschi B, Denny P, et al. Guidelines for human gene nomenclature. Nature genetics 2020; 52(8): 754–758.
20. den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat 2016; 37(6): 564–569.
21. McGowan-Jordan J, Hastings RJ, Moore S, eds. ISCN 2020: An International System for Human Cytogenomic Nomenclature. Basel: S. Karger; 2020.
22. Louis DN, von Deimling A. Grading of diffuse astrocytic gliomas: Broders, Kernohan, Zülch, the WHO… and Shakespeare. Acta Neuropathol 2017; 134(4): 517–520.
23. von Deimling A, Ono T, Shirahata M, Louis DN. Grading of diffuse astrocytic gliomas: a review of studies before and after the advent of IDH testing. Semin Neurol 2018; 38(1): 19–23.
24. Louis DN, Perry A, Burger P, et al. International Society of Neuropathology--Haarlem consensus guidelines for nervous system tumor classification and grading. Brain Pathol 2014; 24(5): 429–435.
25. Capper D, Jones DTW, Sill M, et al. DNA methylation-based classification of central nervous system tumours. Nature 2018; 555(7697): 469–474.
26. Capper D, Stichel D, Sahm F, et al. Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience. Acta Neuropathol 2018; 136(2): 181–210.
27. Jaunmuktane Z, Capper D, Jones DTW, et al. Methylation array profiling of adult brain tumours: diagnostic outcomes in a large, single centre. Acta Neuropathol Commun 2019; 7(1): 24.
28. Priesterbach-Ackley LP, Boldt HB, Petersen JK, et al. Brain tumour diagnostics using a DNA methylation-based classifier as a diagnostic support tool. Neuropathol Appl Neurobiol 2020; 46(5): 478–492.
29. Louis DN, Wesseling P, Brandner S, et al. Data sets for the reporting of tumors of the central nervous system: Recommendations fro the International Collaboration on Cancer Reporting. Arch Pathol Lab Med 2019; 144(2): 196–206.
30. Sievers P, Sill M, Schrimpf D, et al. A subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR. Neuro Oncol 2021; 23(1): 34–43.
31. Tesileanu CMS, Dirven L, Wijnenga MMJ, et al. Survival of diffuse astrocytic glioma, IDH1/2-wildtype, with molecular features of glioblastoma, WHO grade IV: a confirmation of the cIMPACT-NOW criteria. Neuro Oncol 2020; 22(4): 515–523.
32. Clarke M, Mackay A, Ismer B, et al. Infant high-grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes. Cancer Discov 2020; 10(7): 942–963.
33. Guerreiro Stucklin AS, Ryall S, Fukuoka K, et al. Alterations in ALK/ ROS1/NTRK/MET drive a group of infantile hemispheric gliomas. Nat Commun 2019; 10(1): 4343.
34. 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.
35. 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.
36. Taylor MD, Northcott PA, Korshunov A, et al. Molecular subgroups of medulloblastoma: the current consensus. Acta Neuropathol 2012; 123(4): 465–472.
37. Schwalbe EC, Lindsey JC, Nakjang S, et al. Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study. Lancet Oncol 2017; 18(7): 958–971.
38. Cavalli FMG, Remke M, Rampasek L, et al. Intertumoral heterogeneity within medulloblastoma subgroups. Cancer Cell 2017; 31(6): 737–754.
39. Sharma T, Schwalbe EC, Williamson D, et al. Second-generation molecular subgrouping of medulloblastoma: an international meta- analysis of Group 3 and Group 4 subtypes. Acta Neuropathol 2019; 138(2): 309–326.
40. Kumar R, Liu APY, Northcott PA. Medulloblastoma genomics in the modern molecular era. Brain Pathol 2020; 30(3): 679–690.
41. Hovestadt V, Ayrault O, Swartling FJ, et al. Medulloblastomics revisited: biological and clinical insights from thousands of patients. Nat Rev Cancer 2020; 20(1): 42–56.
42. Eberhart CG, Kepner JL, Goldthwaite PT, et al. Histopathologic grading of medulloblastomas: a Pediatric Oncology Group study. Cancer. 2002;94(2):552–560.
43. McManamy CS, Lamont JM, Taylor RE, et al. Morphophenotypic variation predicts clinical behavior in childhood non-desmoplastic medulloblastomas. J Neuropathol Exp Neurol 2003; 62(6): 627–632.
44. McManamy CS, Pears J, Weston CL, et al. Nodule formation and desmoplasia in medulloblastomas- defining the nodular/desmoplastic variant and its biological behavior. Brain Pathol 2007; 17(2): 151–164.
45. Massimino M, Antonelli M, Gandola L, et al. Histological variants of medulloblastoma are the most powerful clinical prognostic indicators. Pediatr Blood Cancer 2013; 60(2): 210–216.
46. 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.
47. Thomas C, Wefers A, Bens S, et al. Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults. Acta Neuropathol 2020; 139(2): 277–286.
48. Lee JC, Mazor T, Lao R, et al. Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma. Acta Neuropathol 2019; 137(5): 851–854.
49. Pfaff E, Aichmüller C, Sill M, et al. Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations. Acta Neuropathol 2020; 139(2): 243– 257.
50. Li BK, Vasiljevic A, Dufour C, et al. Pineoblastoma segregates into molecular subgroups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study. Acta Neuropathol 2020; 139(2): 223–241.
51. Vaubel RA, Chen SG, Raleigh DR, et al. Meningiomas with rhabdoid features lacking other histologic features of malignancy: a study of 44 cases and review of the literature. J Neuropathol Exp Neurol 2016; 75(1): 44–52.
52. Sahm F, Schrimpf D, Olar A, et al. TERT promoter mutations and risk of recurrence in meningioma. J Natl Cancer Inst 2016; 108(5): 1–4.
53. Sievers P, Hielscher T, Schrimpf D, et al. CDKN2A/ B homozygous deletion is associated with early recurrence in meningiomas. Acta Neuropathol 2020; 140(3): 409–413.
54. Gauchotte G, Peyre M, Pouget C, et al. Prognostic value of histopathological features and loss of H3K27me3 immunolabeling in anaplastic meningioma: a multicenter retrospective study. J Neuropathol Exp Neurol 2020; 79(7): 754–762.
55. Nassiri F, Mamatjan Y, Suppiah S, et al. DNA methylation profiling to predict recurrence risk in meningioma: development and validation of a nomogram to optimize clinical management. Neuro Oncol 2019; 21(7): 901–910.
56. Müller HL, Merchant TE, Warmuth-Metz M, et al. Craniopharyngioma. Nat Rev Dis Primers 2019; 5(1): 75.
57. Holsken A, Sill M, Merkle J, et al. Adamantinomatous and papillary craniopharyngiomas are characterized by distinct epigenomic as well as mutational and transcriptomic profiles. Acta Neuropathol Commun 2016; 4: 20.
58. Mete O, Lopes MB, Asa SL. Spindle cell oncocytomas and granular cell tumors of the pituitary are variants of pituicytoma. Am J Surg Pathol 2013; 37(11): 1694–1699.
59. El Hussein S, Vincentelli C. Pituicytoma: review of commonalities and distinguishing features among TTF-1 positive tumors of the central nervous system. Ann Diagn Pathol 2017; 29: 57–61.
60. Rindi G, Klimstra DS, Abedi-Ardekani B, et al. A common classification framework for neuroendocrine neoplasms: an International Agency for Research on Cancer (IARC) and World Health Organization (WHO) expert consensus proposal. Mod Pathol 2018; 31(12): 1770–1786.
Štítky
Anatomical pathology Forensic medical examiner ToxicologyČlánok vyšiel v časopise
Czecho-Slovak Pathology
2022 Číslo 3
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