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Is it a new culprit?TERT promoter mutationin an aggressive pediatric pilocytic astrocytoma

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Abstract

Recent advances in the genomic study have revolutionized the discovery of molecular biomarkers in glioma not only to aid in targeted therapy but also to prognosticate character of tumor and outcome of a patient.

The usually benign nature of pilocytic astrocytoma (PA) can now be challenged with the discovery of genomic alterations that could promote more aggressive clinical behavior. CDKN2A deletion and ATRX gene inactivation or mutation have been the most common molecular alterations in worse prognosis.

We will discuss a case of pilocytic astrocytoma showing the progressive recurrence with pilomyxoid features and the presence of TERT promoter mutation.

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References

  1. Akincilar SC, Unal B, Tergaonkar V (2016) Reactivation of telomerase in cancer. Cell Mol Life Sci 73(8):1659–1670

    Article  CAS  Google Scholar 

  2. Akyerli CB, Yüksel Ş, Can Ö, Erson-Omay EZ, Oktay Y, Coşgun E, Özduman K (2018) Use of telomerase promoter mutations to mark specific molecular subsets with reciprocal clinical behavior in IDH mutant and IDH wild-type diffuse gliomas. J Neurosurg 128(4):1102–1114

    Article  CAS  Google Scholar 

  3. Belirgen M, Berrak SG, Ozdag H, Bozkurt SU, Eksioglu-Demiralp E, Ozek MM (2012) Biologic tumor behavior in pilocytic astrocytomas. Childs Nerv Syst 28(3):375–389

    Article  Google Scholar 

  4. Bernell WR, Kepes JJ, Seitz EP (1972) Late malignant recurrence of childhood cerebellar astrocytoma. Report of two cases. J Neurosurg 37:470474

    Article  Google Scholar 

  5. Brat DJ, Aldape K, Colman H, Holland EC, Louis DN, Jenkins RB, Weller M (2018) cIMPACT-NOW update 3: recommended diagnostic criteria for “Diffuse astrocytic glioma, IDH-wildtype, with molecular features of glioblastoma, WHO grade IV”. Acta Neuropathol

  6. Brito C, Azeved A, Esteves S (2019) Clinical insights gained by refining the 2016 WHO classification of diffuse glioma with ECFR amplification, TERT mutations, PTEN deletions and MGMT methylation. BMC Cancer 19:968

    Article  Google Scholar 

  7. Burkhard C, Di Patre P-L, Schumer D, Schumer G, Ohgaki H (2003) A population-based study of the incidence and survival rates in patients with pilocytic astrocytoma. J Neurosurg 98(6):1170–1174

    Article  Google Scholar 

  8. Ceppa EP, Bouffet E, Griebel R, Robinson C, Tihan T (2007) The pilomyxoid astrocytoma and its relationship to pilocytic astrocytoma: report of a case and a critical review of the entity. J Neuro-Oncol 81:191–196

    Article  Google Scholar 

  9. Chiba K, Johnson JZ, Vogan JM, Wagner T, Boyle JM, Hockemeyer D (2015) Cancer-associated TERT promoter mutations abrogate telomerase silencing. Elife 4

  10. Eckel-Passow JE, Lachance DH, Molinaro AM, Walsh KM, Decker PA, Sicotte H, Jenkins RB (2015) Glioma groups based on 1p/19q, IDH, and TERT promoter mutations in tumors. N Engl J Med 372(26):2499–2508

    Article  CAS  Google Scholar 

  11. Ichimura K (2019) TERT promoter mutation as a diagnostic marker for diffuse gliomas. Neuro-Oncology xx(xx):1–2

    Google Scholar 

  12. Karsy M, Guan J, Cohen AL, Jensen RL, Colman H (2017) New molecular considerations for glioma. Curr Neurol Neurosci Rep 17(19)

  13. Killela PJ, Reitman ZJ, Jiao Y (2013) TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self renewals. PNAS 110(15):6021–6026

    Article  CAS  Google Scholar 

  14. Labussiere M, Di Stefano AL, Gleize V, Boisselier B, Giry M, Magesius S et al (2014) TERT promoter mutation in gliomas, genetic associations & clinicopathological correlation. Br J Cancer 111(10):2024–2032

    Article  CAS  Google Scholar 

  15. Li KKW, Yang R, Chan AKY et al (2017) PATH-34. H3F3A and TERT promoter mutations are poor prognosticators in pediatric low grade gliomas. Neuro-Oncology 19(Suppl 6):vi178

    Article  Google Scholar 

  16. Mcneil KA (2016) Epidemiology of brain tumors. Neurol Clin 34(4):981–998

    Article  Google Scholar 

  17. Ostrom QT, Cioffi G, Gittleman H, Patil N, Waite K, Kruchko C, Barnholtz-Sloan JS (2019) CBTRUS statistical report: primary brain and other central nervous system tumors diagnosed in the United States in 2012–2016. Neuro-Oncology 21:v1–v100

    Article  Google Scholar 

  18. Peter Collins V, James DTW, Giannini C (2015) Pilocytic astrocytoma: pathology, molecular mechanisms and markers. Acta Neuropathol

  19. Phillips JJ, Gong H, Chen K, Joseph NM, van Ziffle J, Bastian BC, Solomon DA (2018) The genetic landscape of anaplastic pleomorphic xanthoastrocytoma. Brain Pathol

  20. Reinhardt A, Stichel D, Schrimpf D, Sahm F, Korshunov A, Reuss DE, Hovestadt V (2018) Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A/B and ATRX alterations. Acta Neuropathol 136(2):273–291

    Article  CAS  Google Scholar 

  21. Rodriguez FJ, Brosnan-Cashman JA, Allen SJ et al (2019) Alternative lengthening of telomeres, ATRX loss and H3-K27M mutations in histologically defined pilocytic astrocytoma with anaplasia. Brain Pathol 29(1):126–140

    Article  CAS  Google Scholar 

  22. Schiffman JD, Hodgson JG, VandenBerg SR et al (2010) Oncogenic BRSF mutation with CDKN2A inactivation is characteristic of a subset of pediatric malignant astrocytoma. Cancer Res 70:512–519

    Article  CAS  Google Scholar 

  23. Sharma MK, Mansur DB, Reifenberger G, Perry A, Leonard JR, Aldape KD, Albin MG, Emnett RJ, Loeser S, Watson MA, Nagarajan R, Gutmann DH (2007) Distinct genetic signatures among pilocytic astrocytomas relate to their brain region origin. Cancer Res 67:890–900

    Article  CAS  Google Scholar 

  24. Trisha K et al (2019) PATH-52. Anaplastic pilomyxoid astrocytoma harboring BRAF FUSION, PTEN and TERT mutations. Neuro-Oncology 21. Supplement_6

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Correspondence to Bahattin Tanrıkulu.

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The authors declare that they have no conflict of interest. Dr. Jacintha Vikeneswary Francis, MBBS, attends a pediatric neurosurgery fellowship program in our department which is sponsored by KARL STORZ Company.

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Francis, J.V., Tanrıkulu, B., Danyeli, A.E. et al. Is it a new culprit?TERT promoter mutationin an aggressive pediatric pilocytic astrocytoma. Childs Nerv Syst 37, 1003–1008 (2021). https://doi.org/10.1007/s00381-020-04803-3

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