Diffuse glioma overview based on the 2021 WHO classification part 1 – adult type
Authors:
M. Hendrych 1; M. Barák 2; H. Valeková 2; T. Kazda 3; P. Pospíšil 3; R. Lakomý 4; J. Šána 4,5; R. Jančálek 2; M. Hermanová 1
Authors place of work:
I. ústav patologie, LF MU a FN u sv. Anny v Brně
1; Neurochirurgická klinika LF MU a FN U sv. Anny v Brně
2; Klinika radiační onkologie LF MU a Masarykův onkologický ústav, Brno
3; Klinika komplexní onkologické péče LF MU a Masarykův onkologický ústav, Brno
4; CEITECH – Středoevropský technologický institut, MU, Brno
5
Published in the journal:
Cesk Slov Neurol N 2023; 86(6): 359-368
Category:
Přehledný referát
doi:
https://doi.org/10.48095/cccsnn2023359
Summary
Recent findings in the field of molecular-genetic alterations in diffuse gliomas, encompassing both adult and pediatric types, have initiated significant changes in their classification and diagnostics. These changes are presented in the fifth edition of the WHO Classification of Tumors of the Central Nervous System emphasizing a pivotal shift from the conventional categorization of tumors based on morphology to an integrated diagnostic approach, which incorporates characteristic molecular-genetic and epigenetic alterations alongside traditional morphological features. This review presents a summary of the units that are included in the group of diffuse gliomas of the adult type, with an emphasis on diagnostic criteria and grading according to the fifth edition of the WHO Classification of Tumors of the Central Nervous System, published in 2021.
Keywords:
astrocytoma – glioblastoma – oligodendroglioma – diffuse glioma – WHO CNS 2021 – integrated diagnostics
Zdroje
1. Ostrom QT, Price M, Neff C et al. CBTRUS statistical report: primary brain and other central nervous system tumors diagnosed in the United States in 2015–2019. Neuro Oncol 2022; 24 (Suppl 5): v1–v95. doi: 10.1093/neuonc/noac202.
2. 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. doi: 10.1093/neuonc/noab106.
3. WHO Classification of Tumours Editorial Board. Central nervous system tumours. Lyon: International Agency for Research on Cancer 2021.
4. Hendrych M, Valeková H, Kazda T et al. Integrated diag- nostics of diffuse gliomas. Klin Onkol 2020; 33 (4): 248–259. doi: 10.14735/amko2020248.
5. 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. doi: 10.1111/bpa.12832.
6. 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. doi: 10.1007/s00401-018-1808-0.
7. 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. doi: 10.1007/s00401-020-02127-9.
8. Ellison DW, Hawkins C, Jones DTW et al. cIMPACT-NOW update 4: diffuse gliomas characterized by MYB, MYBL1, or FGFR1 alterations or BRAF V600E mutation. Acta Neuropathol 2019; 137 (4): 683–687. doi: 10.1007/s00401-019-01987-0.
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. doi: 10.1007/s00401-018-1826-y.
10. 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. doi: 10.1007/s00401-018-1913-0.
11. Stupp R, Mason WP, van den Bent MJ et al. Radiotherapy plus concomitant and adjuvant temozolomide for glioblastoma. N Engl J Med 2005; 352 (10): 987–996. doi: 10.1056/NEJMoa043330.
12. Stupp R, Taillibert S, Kanner AA et al. Maintenance therapy with tumor-treating fields plus temozolomide vs temozolomide alone for glioblastoma a randomized clinical trial. JAMA 2015; 314 (23): 2535–2543. doi: 10.1001/jama.2015.16669.
13. Mellinghoff IK, van den Bent MJ, Blumenthal DT et al. Vorasidenib in IDH1- or IDH2-mutant low-grade glioma. N Engl J Med 2023; 389 (7): 589–601. doi: 10.1056/NEJMoa2304194.
14. Weller M, van den Bent M, Preusser M et al. EANO guidelines on the diagnosis and treatment of diffuse gliomas of adulthood. Nat Rev Clin Oncol 2021; 18 (3): 170–186. doi: 10.1038/s41571-020-00447-z.
15. Miller JJ, Castro LNG, Mcbrayer S et al. Isocitrate dehydrogenase (IDH) mutant gliomas: a Society for Neuro-Oncology (SNO) consensus review on diagnosis, management, and future directions. Neuro Oncol 2023; 25 (1): 4–25. doi: 10.1093/neuonc/noac207.
16. Huse JT, Diamond EL, Wang L et al. Mixed glioma with molecular features of composite oligodendroglioma and astrocytoma: a true „oligoastrocytoma“? Acta Neuropathol 2015; 129 (1): 151–153. doi: 10.1007/s00401-014-1359-y.
17. Brat DJ, Aldape K, Bridge JA et al. Molecular biomarker testing for the diagnosis of diffuse gliomas. Arch Pathol Lab Med 2022; 146 (5): 547–574. doi: 10.5858/arpa.2021-0295-CP.
18. Carstam L, Corell A, Smits A et al. WHO grade loses its prognostic value in molecularly defined diffuse lower-grade gliomas. Front Oncol 2022; 11: 803975. doi: 10.3389/fonc.2021.803975.
19. Kros JM, Rushing E, Uwimana AL et al. Mitotic count is prognostic in IDH mutant astrocytoma without homozygous deletion of CDKN2A/B. Results of consensus panel review of EORTC trial 26053 (CATNON) and EORTC trial 22033-26033. Neuro Oncol 2023; 25 (8): 1443–1449. doi: 10.1093/neuonc/noac282.
20. Marker DF, Pearce TM. Homozygous deletion of CDKN2A by fluorescence in situ hybridization is prognostic in grade 4, but not grade 2 or 3, IDH-mutant astrocytomas. Acta Neuropathol Commun 2020; 8 (1): 169. doi: 10.1186/s40478-020-01044-y.
21. Appay R, Dehais C, Maurage CA et al. CDKN2A homozygous deletion is a strong adverse prognosis factor in diffuse malignant IDH-mutant gliomas. Neuro Oncol 2019; 21 (12): 1519–1528. doi: 10.1093/neuonc/noz 124.
22. Ceccarelli M, Barthel FP, Malta TM et al. Molecular profiling reveals biologically discrete subsets and pathways of progression in diffuse glioma. Cell 2016; 164 (3): 550–563. doi: 10.1016/j.cell.2015.12.028.
23. Kocakavuk E, Anderson KJ, Varn FS et al. Radiotherapy is associated with a deletion signature that contributes to poor outcomes in patients with cancer. Nat Genet 2021; 53 (7): 1088–1096. doi: 10.1038/s41588-021-00874-3.
24. Lee K, Kim SI, Kim EE et al. Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis. Sci Rep 2023; 13 (1): 6761. doi: 10.1038/s41598-023-32153-y.
25. Onda K, Tanaka R, Takahashi H et al. Cerebral glioblastoma with cerebrospinal fluid dissemination: a clinicopathological study of 14 cases examined by complete autopsy. Neurosurgery 1989; 25 (4): 533–540. doi: 10.1227/00006123-198910000-00005.
26. Hendrych M, Solar P, Hermanova M et al. Spinal metastasis in a patient with supratentorial glioblastoma with primitive neuronal component: a case report with clinical and molecular evaluation. Diagnostics 2023; 13 (2): 181. doi: 10.3390/diagnostics13020181.
27. Lakomy R, Kazda T, Selingerova I et al. Real-world evidence in glioblastoma: Stupp’s regimen after a decade. Front Oncol 2020; 10: 840. doi: 10.3389/fonc.2020.00840.
28. Tan AC, Ashley DM, López GY et al. Management of glioblastoma: state of the art and future directions. CA Cancer J Clin 2020; 70 (4): 299–312. doi: 10.3322/caac. 21613.
29. 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. doi: 10.1093/neuonc/noz200.
30. Wijnenga MMJ, Maas SLN, van Dis V et al. Glioblastoma lacking necrosis or vascular proliferations: different clinical presentation but similar outcome, regardless of histology or isolated TERT promoter mutation. Neurooncol Adv 2023; 5 (1): vdad075. doi: 10.1093/noajnl/vdad 075.
31. Zhang Y, Lucas CHG, Young JS et al. Prospective genomically guided identification of „early/evolving“ and „undersampled“ IDH-wildtype glioblastoma leads to improved clinical outcomes. Neuro Oncol 2022; 24 (10): 1749–1762. doi: 10.1093/neuonc/noac089.
32. Hegi ME, Diserens A-C, Gorlia T et al. MGMT gene silencing and benefit from temozolomide in glioblastoma. N Engl J Med 2005; 352 (10): 997–1003. doi: 10.1056/NEJMoa043331.
33. Higa N, Akahane T, Yokoyama S et al. Prognostic impact of PDGFRA gain/amplification and MGMT promoter methylation status in patients with IDH wild-type glioblastoma. Neurooncol Adv 2022; 4 (1): vdac097. doi: 10.1093/noajnl/vdac097.
34. Alnahhas I, Alsawas M, Rayi A et al. Characterizing benefit from temozolomide in MGMT promoter unmethylated and methylated glioblastoma: a systematic review and meta-analysis. Neurooncol Adv 2020; 2 (1): vdaa082. doi: 10.1093/noajnl/vdaa082.
35. Lam K, Eldred BSC, Kevan B et al. Prognostic value of O6-methylguanine-DNA methyltransferase methylation in isocitrate dehydrogenase mutant gliomas. Neurooncol Adv 2022; 4 (1): vdac030. doi: 10.1093/noajnl/vdac 030.
36. 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. doi: 10.1111/bpa.12171.
37. Sahm F, Brandner S, Bertero L et al. Molecular diagnostic tools for the World Health Organization (WHO) 2021 classification of gliomas, glioneuronal and neuronal tumors; an EANO guideline. Neuro Oncol 2023; 25 (10): 1731–1749. doi: 10.1093/neuonc/noad100.
Štítky
Dětská neurologie Neurochirurgie NeurologieČlánek vyšel v časopise
Česká a slovenská neurologie a neurochirurgie
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