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Pediatric-type diffuse low-grade glioma with T2-FLAIR mismatch sign: a case report and literature review

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Abstract

Introduction

Pediatric-type diffuse low-grade gliomas are a new entity that was introduced in the fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System, which was published in 2021. Notably, the information regarding the radiophenotypes of this new entity is limited.

Objective

T2-FLAIR mismatch sign has been mostly studied in adult-type diffuse gliomas so far. We aimed to present more pediatric cases for future research about T2-FLAIR mismatch signs in pediatric-type diffuse low-grade gliomas.

Case presentation

The current study presents a case of a 2-year-old boy who has a subcortical tumor at the right precentral frontal region. This tumor exhibited a T2-fluid-attenuated inversion recovery (FLAIR) mismatch sign that was identified as specific for isocitrate dehydrogenase (IDH)-mutant 1p/19q non-co-deleted astrocytomas. The tumor was pathologically identified as pediatric-type diffuse low-grade gliomas, and it tested negative for IDH-1 immunohistochemistry. The whole-exome sequencing of tumor tissue revealed negative results for IDH mutation, 1p/19q co-deletion, MYB rearrangement, and all other potential pathogenic mutations.

Conclusion

The T2-FLAIR mismatch sign may not be 100% specific for IDH-mutant gliomas, especially in children, and researchers must further investigate the pathophysiology of the T2-FLAIR mismatch sign in brain tumors and the radiophenotypes of entities of pediatric brain tumors.

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Data availability

No datasets were generated or analyzed during the current study.

References

  1. Ostrom QT, Cioffi G, Waite K, Kruchko C, Barnholtz-Sloan JS (2021) CBTRUS statistical report: primary brain and other central nervous system tumors diagnosed in the United States in 2014–2018. Neuro Oncol 23:iii1–iii105. https://doi.org/10.1093/neuonc/noab200

    Article  PubMed  PubMed Central  Google Scholar 

  2. Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella-Branger D, Cavenee WK, Ohgaki H, Wiestler OD, Kleihues P, Ellison DW (2016) The 2016 World Health Organization Classification Of Tumors of the Central Nervous System: a summary. Acta Neuropathol 131:803–820. https://doi.org/10.1007/s00401-016-1545-1

    Article  PubMed  Google Scholar 

  3. Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, Hawkins C, Ng HK, Pfister SM, Reifenberger G, Soffietti R, von Deimling A, Ellison DW (2021) The 2021 WHO Classification Of Tumors of the Central Nervous System: a summary. Neuro-Oncol 23:1231–1251. https://doi.org/10.1093/neuonc/noab106

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. McNamara C, Mankad K, Thust S, Dixon L, Limback-Stanic C, D’Arco F, Jacques TS, Löbel U (2022) 2021 WHO classifcation of tumours of the central nervous system: a review for the neuroradiologist. Neuroradiology 64:1919–1950. https://doi.org/10.1007/s00234-022-03008-6

    Article  PubMed  Google Scholar 

  5. Cancer Genome Atlas Research Network, Brat DJ, Verhaak RGW, Aldape KD et al (2015) Comprehensive, integrative genomic analysis of diffuse lower-grade gliomas. N Engl J Med 372:2481–2498. https://doi.org/10.1056/NEJMoa1402121

    Article  CAS  Google Scholar 

  6. Eckel-Passow JE, Lachance DH, Molinaro AM et al (2015) Glioma groups based on 1p/19q, IDH, and TERT promoter mutations in tumors. N Engl J Med 372:2499–2508. https://doi.org/10.1056/NEJMoa1407279

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Patel SH, Poisson LM, Brat DJ, Zhou Y, Cooper L, Snuderl M, Thomas C, Franceschi AM, Griffith B, Flanders AE, Golfinos JG, Chi AS, Jain R (2017) T2–FLAIR mismatch, an imaging biomarker for IDH and 1p/19q status in lower-grade gliomas: a TCGA/TCIA project. Clin Cancer Research 23:6078–6085. https://doi.org/10.1158/1078-0432.CCR-17-0560

    Article  CAS  Google Scholar 

  8. Chamberlain MC, Born D (2015) Prognostic significance of relative 1p/19q codeletion in oligodendroglial tumors. J Neurooncol 125:249–251. https://doi.org/10.1007/s11060-015-1906-y

    Article  CAS  PubMed  Google Scholar 

  9. van den Bent MJ, Brandes AA, Taphoorn MJB, Kros JM, Kouwenhoven MCM, Delattre JY, Bernsen HJJA, Frenay M, Tijssen CC, Grisold W, Sipos L, Enting RH, French PJ, Dinjens WNM, Vecht CJ, Allgeier A, Lacombe D, Gorlia T, Hoang-Xuan K (2013) Adjuvant procarbazine, lomustine, and vincristine chemotherapy in newly diagnosed anaplastic oligodendroglioma: long-term follow-up of EORTC brain tumor group study 26951. J Clin Oncol 31:344–350. https://doi.org/10.1200/JCO.2012.43.2229

    Article  CAS  PubMed  Google Scholar 

  10. Fabbri VP, Caporalini C, Asioli S, Buccoliero A (2022) Paediatric-type diffuse low-grade gliomas: a clinically and biologically distinct group of tumours with a favourable outcome. Pathologica 114:410–421. https://doi.org/10.32074/1591-951X-828

    Article  PubMed  PubMed Central  Google Scholar 

  11. Parmar HA, Hawkins C, Ozelame R, Chuang S, Rutka J, Blaser S (2007) Fluid-attenuated inversion recovery ring sign as a marker of dysembryoplastic neuroepithelial tumors. J Comput Assist Tomogr 31:348–353. https://doi.org/10.1097/01.rct.0000243453.33610.9d

    Article  PubMed  Google Scholar 

  12. Johnson DR, Kaufmann TJ, Patel SH, Chi AS, Snuderl M, Jain R (2019) There is an exception to every rule-T2-FLAIR mismatch sign in gliomas. Neuroradiology 61:225–227. https://doi.org/10.1007/s00234-018-2148-4

    Article  PubMed  Google Scholar 

  13. Onishi S, Amatya VJ, Kolakshyapati M, Takano M, Yonezawa U, Taguchi A, Kaichi Y, Takeshima Y, Awai K, Sugiyama K, Kurisu K, Yamasaki F (2020) T2-FLAIR mismatch sign in dysembryoplasticneuroepithelial tumor. Eur J Radiol 126:108924. https://doi.org/10.1016/j.ejrad.2020.108924

    Article  PubMed  Google Scholar 

  14. Valentino WL, Okada D, Bhanu S (2022) A curious case of T2-FLAIR mismatch in H3K27M mutant glioma. Radiol Case Rep 17:2930–2935. https://doi.org/10.1016/j.radcr.2022.05.017

    Article  PubMed  PubMed Central  Google Scholar 

  15. Kalelioglu T, RamaB CBB, Lopes BM, Patel SH (2023) Pediatric-type diffuse low-grade glioma with MYB/MYBL1 alteration: report of 2 cases. Neuroradiol J 36:232–235. https://doi.org/10.1177/19714009221126015

    Article  PubMed  Google Scholar 

  16. Wagner MW, Nobre L, Namdar K, Khalvati F, Tabori U, Hawkins C, Ertl-Wagner BB (2023) T2-FLAIR mismatch sign in pediatric low-grade glioma. Am J Neuroradiol 44:841–845. https://doi.org/10.3174/ajnr.A7916

    Article  CAS  PubMed  Google Scholar 

  17. Bale TA, Rosenblum MK (2022) The 2021 WHO Classification Of Tumors of the Central Nervous System: an update on pediatric low-grade gliomas and glioneuronal tumors. Brain Pathol 32:e13060. https://doi.org/10.1111/bpa.13060

    Article  PubMed  PubMed Central  Google Scholar 

  18. Batchala PP, Muttikkal TJE, Donahue JH, Patrie JT, Schiff D, Fadul CE, Mrachek EK, Lopes M-B, Jain R, Patel SH (2019) Neuroimaging-based classification algorithm for predicting 1p/19q-codeletion status in IDH-mutant lower grade gliomas. AJNR Am J Neuroradiol 40:426–432. https://doi.org/10.3174/ajnr.A5957

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. Broen MPG, Smits M, Wijnenga MMJ, Dubbink HJ, Anten MHME, Schijns OEMG, Beckervordersandforth J, Postma AA, van den Bent MJ (2018) The T2-FLAIR mismatch sign as an imaging marker for non-enhancing IDH-mutant, 1p/19q-intact lower-grade glioma: a validation study. Neuro Oncol 20:1393–1399. https://doi.org/10.1093/neuonc/noy048

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Lasocki A, Gaillard F, Gorelik A, Gonzales M (2018) MRI features can predict 1p/19q status in intracranial gliomas. AJNR Am J Neuroradiol 39:687–692. https://doi.org/10.3174/ajnr.A5572

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Juratli TA, Tummala SS, Riedl A, Daubner D, Hennig S, Penson T, Zolal A, Thiede C, Schackert G, Krex D, Miller JJ, Cahill DP (2019) Radiographic assessment of contrast enhancement and T2/FLAIR mismatch sign in lower grade gliomas: correlation with molecular groups. J Neurooncol 141:327–335. https://doi.org/10.1007/s11060-018-03034-6

    Article  CAS  PubMed  Google Scholar 

  22. Jain R, Johnson DR, Patel SH, Castillo M, Smits M, van den Bent MJ, Chi AS, Cahill DP (2020) “Real world” use of a highly reliable imaging sign: “T2-FLAIR mismatch” for identification of IDH mutant astrocytomas. Neuro Oncol 22(7):936–943. https://doi.org/10.1093/neuonc/noaa041

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Delfanti RL, Piccioni DE, Handwerker J, Bahrami N, Krishnan AP, Karunamuni R, Hattangadi-Gluth JA, Seibert TM, Srikant A, Jones KA, Snyder VS, Dale AM, White NS, McDonald CR, Farid N (2017) Imaging correlates for the 2016 update on WHO classification of grade II/III gliomas: implications for IDH, 1p/19q and ATRX status. J Neurooncol 135:601–609. https://doi.org/10.1007/s11060-017-2613-7

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Smits M, van den Bent MJ (2017) Imaging correlates of adult glioma genotypes. Radiology 284:316–331. https://doi.org/10.1148/radiol.2017151930

    Article  PubMed  Google Scholar 

  25. Law M, Young RJ, Babb JS, Peccerelli N, Chheang S, Gruber ML, Miller DC, Golfinos JG, Zagzag D, Johnson G (2008) Gliomas: predicting time to progression or survival with cerebral blood volume measurements at dynamic susceptibility-weighted contrast-enhanced perfusion MR imaging. Radiology 247:490–498. https://doi.org/10.1148/radiol.2472070898

    Article  PubMed  Google Scholar 

  26. Fujita Y, Nagashima H, Tanaka K, Hashiguchi M, Hirose T, Itoh T, Sasayama T (2021) The histopathologic and radiologic features of T2-FLAIR mismatch sign in IDH-mutant 1p/19q non-codeleted astrocytomas. World Neurosurg 149:e253–e260. https://doi.org/10.1016/j.wneu.2021.02.042

    Article  PubMed  Google Scholar 

  27. Deguchi S, Oishi T, Mitsuya K, Kakuda Y, Endo M, Sugino T, Hayashi N (2020) Clinicopathological analysis of T2-FLAIR mismatch sign in lower-grade gliomas. Sci Rep 10:10113. https://doi.org/10.1038/s41598-020-67244-7

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Tay KL, Tsui A, Phal PM, Drummond KJ, Tress BM (2011) MR imaging characteristics of protoplasmic astrocytomas. Neuroradiology 53:405–411. https://doi.org/10.1007/s00234-010-0741-2

    Article  PubMed  Google Scholar 

  29. Kinoshita M, Uchikoshi M, Sakai M, Kanemura Y, Kishima H, Nakanishi K (2021) T2-FLAIR mismatch sign is caused by long T1 and T2 of IDH-mutant, 1p19q non-codeleted astrocytoma. Magn Reson Med Sci 20:119–123. https://doi.org/10.2463/mrms.bc.2019-0196

    Article  CAS  PubMed  Google Scholar 

  30. de la Fuente MI, Young RJ, Rubel J et al (2016) Integration of 2-hydroxyglutarate-proton magnetic resonance spectroscopy into clinical practice for disease monitoring in isocitrate dehydrogenase-mutant glioma. Neuro Oncol 18:283–290. https://doi.org/10.1093/neuonc/nov307

    Article  CAS  PubMed  Google Scholar 

  31. Kickingereder P, Sahm F, Radbruch A, Wick W, Heiland S, von Deimling A, Bendszus M, Wiestler B (2015) IDH mutation status is associated with a distinct hypoxia/angiogenesis transcriptome signature which is non-invasively predictable with rCBV imaging in human glioma. Sci Rep 5:16238. https://doi.org/10.1038/srep16238

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Suchorska B, Giese A, Biczok A, Unterrainer M, Weller M, Drexler M, Bartenstein P, Schüller U, Tonn JC, Albert NL (2018) Identification of time-to-peak on dynamic 18F-FET-PET as a prognostic marker specifically in IDH1/2 mutant diffuse astrocytoma. Neuro Oncol 20:279–288. https://doi.org/10.1093/neuonc/nox153

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

We would like to acknowledge Professor Ni-Chung Lee (of the Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan) for whole exome sequencing data analysis.

Funding

No funding was obtained for this study.

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Authors and Affiliations

  1. Department of Medical Imaging, National Taiwan University Hospital, Taipei, Taiwan

    Jia-Ching Hwa

  2. Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital at Keelung and Linkou, Chang Gung University College of Medicine, Keelung and Linkou, Taiwan

    Alex Mun-Ching Wong

  3. Department of Pathology, Chang Gung Memorial Hospital, Taoyuan, Linkou, Taiwan

    Shih-Ming Jung

  4. Department of Neurosurgery, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Linkou, Taiwan

    Chieh-Tsai Wu

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Contributions

Jia-Ching Hwa: conceptualization and writing-original draft. Alex Mun-Ching Wong: methodology. Shih-Ming Jung: methodology, review, and editing. Chieh-Tsai Wu: review, editing, and supervision. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Chieh-Tsai Wu.

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In this case report, the authors declare that they follow the regulations approved by the Chang Gung Medical Foundation Institutional Review Board (202201568B0) and the Helsinki Declaration of the World Medication Association. Informed consent was obtained from the patient’s parents.

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Hwa, JC., Wong, A.MC., Jung, SM. et al. Pediatric-type diffuse low-grade glioma with T2-FLAIR mismatch sign: a case report and literature review. Childs Nerv Syst (2024). https://doi.org/10.1007/s00381-024-06487-5

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