Paediatric Low-grade Glioma: the Role of Classical Pathology in Integrated Diagnostic Practice

Overview

Journal Childs Nerv Syst

Specialty Pediatrics

Date 2024 Sep 18

PMID 39294363

Authors

Thomas J Stone

Ashirwad Merve

Fernanda Valerio

Shireena A Yasin

Thomas S Jacques

Affiliations

Soon will be listed here.

Abstract

Low-grade gliomas are a cause of severe and often life-long disability in children. Pathology plays a key role in their management by establishing the diagnosis, excluding malignant alternatives, predicting outcomes and identifying targetable genetic alterations. Molecular diagnosis has reshaped the terrain of pathology, raising the question of what part traditional histology plays. In this review, we consider the classification and pathological diagnosis of low-grade gliomas and glioneuronal tumours in children by traditional histopathology enhanced by the opportunities afforded by access to comprehensive genetic and epigenetic characterisation.

References

Bailey S, Davidson A, Parkes J, Tabori U, Figaji A, Epari S . How Can Genomic Innovations in Pediatric Brain Tumors Transform Outcomes in Low- and Middle-Income Countries?. JCO Glob Oncol. 2022; 8:e2200156. PMC: 9812475. DOI: 10.1200/GO.22.00156. View

Bandopadhayay P, Ramkissoon L, Jain P, Bergthold G, Wala J, Zeid R . MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism. Nat Genet. 2016; 48(3):273-82. PMC: 4767685. DOI: 10.1038/ng.3500. View

Jansen A, Belousova E, Benedik M, Carter T, Cottin V, Curatolo P . Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. Front Neurol. 2019; 10:821. PMC: 6688052. DOI: 10.3389/fneur.2019.00821. View

Fernandez C, Figarella-Branger D, Girard N, Bouvier-Labit C, Gouvernet J, Paz Paredes A . Pilocytic astrocytomas in children: prognostic factors--a retrospective study of 80 cases. Neurosurgery. 2003; 53(3):544-53; discussion 554-5. DOI: 10.1227/01.neu.0000079330.01541.6e. View

Capper D, Stichel D, Sahm F, Jones D, Schrimpf D, Sill M . Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience. Acta Neuropathol. 2018; 136(2):181-210. PMC: 6060790. DOI: 10.1007/s00401-018-1879-y. View

Platten M, Blumcke I, Waha A, Wolf H, Nothen M, Louis D . A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas. J Neuropathol Exp Neurol. 1997; 56(7):806-10. View

Anan M, Inoue R, Ishii K, Abe T, Fujiki M, Kobayashi H . A rosette-forming glioneuronal tumor of the spinal cord: the first case of a rosette-forming glioneuronal tumor originating from the spinal cord. Hum Pathol. 2009; 40(6):898-901. DOI: 10.1016/j.humpath.2008.11.010. View

Bouffet E, Hansford J, Garre M, Hara J, Plant-Fox A, Aerts I . Dabrafenib plus Trametinib in Pediatric Glioma with V600 Mutations. N Engl J Med. 2023; 389(12):1108-1120. DOI: 10.1056/NEJMoa2303815. View

Tihan T, Fisher P, Kepner J, Godfraind C, McComb R, Goldthwaite P . Pediatric astrocytomas with monomorphous pilomyxoid features and a less favorable outcome. J Neuropathol Exp Neurol. 1999; 58(10):1061-8. DOI: 10.1097/00005072-199910000-00004. View

10.

Solis O, Mehta R, Lai A, Mehta R, Farchoukh L, Green R . Rosette-forming glioneuronal tumor: a pineal region case with IDH1 and IDH2 mutation analyses and literature review of 43 cases. J Neurooncol. 2010; 102(3):477-84. PMC: 3089723. DOI: 10.1007/s11060-010-0335-1. View

11.

Fisher M, Jones D, Li Y, Guo X, Sonawane P, Waanders A . Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1). Acta Neuropathol. 2021; 141(4):605-617. DOI: 10.1007/s00401-021-02276-5. View

12.

Wisniewski K, Brandel M, Gonda D, Crawford J, Levy M . Prognostic factors in diffuse leptomeningeal glioneuronal tumor (DLGNT): a systematic review. Childs Nerv Syst. 2022; 38(9):1663-1673. DOI: 10.1007/s00381-022-05600-w. View

13.

Yamada R, Inoue H, Kuroda J, Furuta T, Moritsubo M, Shinojima N . Melanotic pilocytic astrocytoma. Neuropathology. 2022; 43(2):197-199. DOI: 10.1111/neup.12871. View

14.

Yang C, Fang J, Li G, Li S, Ha T, Wang J . Histopathological, molecular, clinical and radiological characterization of rosette-forming glioneuronal tumor in the central nervous system. Oncotarget. 2018; 8(65):109175-109190. PMC: 5752512. DOI: 10.18632/oncotarget.22646. View

15.

Jiang H, Qiu L, Song J, Xu D, Sun L, Feng Y . Clinical progression, pathological characteristics, and radiological findings in children with diffuse leptomeningeal glioneuronal tumors: A systematic review. Front Oncol. 2022; 12:970076. PMC: 9525023. DOI: 10.3389/fonc.2022.970076. View

16.

Kitamura Y, Komori T, Shibuya M, Ohara K, Saito Y, Hayashi S . Comprehensive genetic characterization of rosette-forming glioneuronal tumors: independent component analysis by tissue microdissection. Brain Pathol. 2016; 28(1):87-93. PMC: 8028681. DOI: 10.1111/bpa.12468. View

17.

Honavar M, Janota I, Polkey C . Histological heterogeneity of dysembryoplastic neuroepithelial tumour: identification and differential diagnosis in a series of 74 cases. Histopathology. 1999; 34(4):342-56. DOI: 10.1046/j.1365-2559.1999.00576.x. View

18.

Wefers A, Stichel D, Schrimpf D, Coras R, Pages M, Tauziede-Espariat A . Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course. Acta Neuropathol. 2019; 139(1):193-209. PMC: 7477753. DOI: 10.1007/s00401-019-02078-w. View

19.

Gupta R, Lucas C, Wu J, Barreto J, Shah K, Bernal Simon I . Low-grade glioneuronal tumors with FGFR2 fusion resolve into a single epigenetic group corresponding to 'Polymorphous low-grade neuroepithelial tumor of the young'. Acta Neuropathol. 2021; 142(3):595-599. PMC: 8357689. DOI: 10.1007/s00401-021-02352-w. View

20.

Bennett J, Tan T, Alcantara D, Tetrault M, Timms A, Jensen D . Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016; 98(3):579-587. PMC: 4800051. DOI: 10.1016/j.ajhg.2016.02.006. View