Primary Infratentorial Central Nervous System Neuroblastoma: Case Report and Review from Paediatric Population
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Abstract
Background: Neuroblastomas of the central nervous system are rare malignant neoplasms that predominantly affect children. The neoplasia can present a wide variety of symptoms depending on its location and size. It has been documented predominantly in the supratentorial and spinal regions. The objective is to report an infratentorial pedriatric neuroblastoma case and review of the literature.
Methods: The case of a patient diagnosed with neuroblastoma was reported. In addition, an exhaustive review of the literature between the years 1966 to 2024 was carried out.
Results: From our cohort study, we found 197 patients, including our patient. Of the total number of cases, 195 were supratentorial; 49 frontal, 14 fronto-parietal, 7 fronto-temporal, 2 fronto-temporo-parietal, 9 temporal, 6 temporo-parietal, 3 temporo-parieto-occipital, 23 parietal, 13 parieto-occipital, and 6 occipital cases.
Conclusion: Neuroblastoma is a high-grade neoplasm (WHO grade 4) with predominantly supratentorial involvement. We present a pediatric case of infratentorial neuroblastoma and a review of the literature.
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Copyright (c) 2025 Villalobos-Domínguez LA, et al.
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Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, et al. The 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol. 2021;23:1231–1251. Available from: https://academic.oup.com/neuro-oncology/article/23/8/1231/6311214
Schepke E, Löfgren M, Pietsch T, Kling T, Nordborg C, Olsson Bontell T, et al. Supratentorial CNS-PNETs in children; a Swedish population-based study with molecular re-evaluation and long-term follow-up. Clin Epigenetics. 2023;15. Available from: https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-023-01456-2
Liu APY, Dhanda SK, Lin T, Sioson E, Vasilyeva A, Gudenas B, et al. Molecular classification and outcome of children with rare CNS embryonal tumors: results from St. Jude Children’s Research Hospital including the multi-center SJYC07 and SJMB03 clinical trials. Acta Neuropathol. 2022. Available from: https://link.springer.com/article/10.1007/s00401-022-02484-7
Korshunov A, Okonechnikov K, Schmitt-Hoffner F, Ryzhova M, Sahm F, Stichel D, et al. Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation. Acta Neuropathol Commun. 2021;9. Available from: https://actaneurocomms.biomedcentral.com/articles/10.1186/S40478-021-01118-5
Von Hoff K, Haberler C, Schmitt-Hoffner F, Schepke E, De Rojas T, Jacobs S, et al. Therapeutic implications of improved molecular diagnostics for rare CNS embryonal tumor entities: Results of an international, retrospective study. Neuro Oncol. 2021;23:1597–1611. Available from: https://academic.oup.com/neuro-oncology/article/23/10/1597/6326290
Bianchi F, Tamburrini G, Gessi M, Frassanito P, Massimi L, Caldarelli M. Central nervous system (CNS) neuroblastoma. A case-based update. Childs Nerv Syst. 2018;34:817–823. Available from: https://link.springer.com/article/10.1007/s00381-018-3764-3
Ahdevaara P, Kalimo H, Haltia TM. Differentiating intracerebral neuroblastoma: report of a case and review of the literature. Cancer. 1977;40:784–788. Available from: https://acsjournals.onlinelibrary.wiley.com/doi/10.1002/1097-0142(197708)40:2<784::AID-CNCR2820400228>3.0.CO;2-8
Horten BC, Rubinstein LI. Primary cerebral neuroblastoma: a clinicopathological study of 35 cases. Brain. 1976;99:735–756. Available from: https://academic.oup.com/brain/article/99/4/735/2674336
Bennett JP, Rubinstein LJ. The biological behavior of primary cerebral neuroblastoma: a reappraisal of the clinical course in a series of 70 cases. Ann Neurol. 1984;16:21–27. Available from: https://onlinelibrary.wiley.com/doi/10.1002/ANA.410160106
Holsten T, Lubieniecki F, Spohn M, Mynarek M, Bison B, Löbel U, et al. Detailed clinical and histopathological description of 8 cases of molecularly defined CNS neuroblastomas. J Neuropathol Exp Neurol. 2021;80:52–59. Available from: https://academic.oup.com/jnen/article/80/1/52/5911977
Tietze A, Mankad K, Lequin MH, Ivarsson L, Mirsky D, Jaju A, et al. Imaging Characteristics of CNS Neuroblastoma-FOXR2: A Retrospective and Multi-Institutional Description of 25 Cases. Am J Neuroradiol. 2022;43:1476–1480. Available from: https://www.ajnr.org/content/43/10/1476
Hanzilk E, Siskar AN, Eldomery MK, Pinto S, Tinkle CL, Zhang Q, et al. PATH-03, FOXR2-overexpressing central nervous system (CNS) tumors exhibit substantial diversity across histological, molecular, and clinical dimensions. Neuro Oncol. 2024;18. Available from: https://academic.oup.com/neuro-oncology/article/18/Supplement_6/noae064.706/7617682
Yadav K, Sharma PK, Singh DK, Mishra VK. Primary central nervous system neuroblastoma mimicking a meningioma: A case report. J Postgrad Med. 2024;70:178–181. Available from: https://www.jpgmonline.com/article.asp?issn=0022-3859;year=2024;volume=70;issue=3;spage=178;epage=181
Tauziède-Espariat A, Figarella-Branger D, Métais A, Uro-Coste E, Maurage CA, Lhermitte B, et al. CNS neuroblastoma, FOXR2-activated and its mimics: a relevant panel approach for work-up and accurate diagnosis of this rare neoplasm. Acta Neuropathol Commun. 2023;11. Available from: https://actaneurocomms.biomedcentral.com/articles/10.1186/S40478-023-01536-7
Tsai JW, Cejas P, Wang DK, Patel S, Wu DW, Arounleut P, et al. FOXR2 Is an Epigenetically Regulated Pan-Cancer Oncogene That Activates ETS Transcriptional Circuits. Cancer Res. 2022;82:2980–3001. Available from: https://aacrjournals.org/cancerres/article/82/15/2980/704065
Łastowska M, Trubicka J, Sobocińska A, Wojtas B, Niemira M, Szałkowska A, et al. Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes. Acta Neuropathol Commun. 2020;8. Available from: https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-020-00984-9
Shimazaki K, Kurokawa R, Franson A, Kurokawa M, Baba A, Bou-Maroun L, et al. Neuroimaging features of FOXR2-activated CNS neuroblastoma: A case series and systematic review. J Neuroimaging. 2023;33:359–367. Available from: https://onlinelibrary.wiley.com/doi/10.1111/jon.13095
Borni M, Znazen M, Mdhaffar N, Boudawara MZ. A rare case of pediatric primary central nervous system differentiating neuroblastoma: An unusual and rare intracranial primitive neuroectodermal tumor (a case report). Pan Afr Med J. 2021;40. Available from: https://www.panafrican-med-journal.com/content/article/40/33/full
Miller AA, Ramsden F. A cerebral neuroblastoma with unusual fibrous tissue reaction. 1966;25(2):328–340. Available from: https://doi.org/10.1097/00005072-196604000-00011
Durity FA, Dolman CL, Moyes PD. Ganglioneuroblastoma of the Cerebellum Case Report, Vancouver. 1968;28(3):270–273. Available from: https://doi.org/10.3171/jns.1968.28.3.0270
Henriquez AS, Robertson DM, John W, Marshall S. Primary neuroblastoma of the central nervous system with spontaneous extracranial metastases. Case report. 1973;38:226–231. Available from: https://doi.org/10.3171/jns.1973.38.2.0226
Latchaw RE, L'Heureux PR, Young G, Priests JR. Neuroblastoma Presenting as Central Nervous System Disease. 1982;3:623–630. Available from: https://pubmed.ncbi.nlm.nih.gov/6816038/
Berger MS, Edwards MSB, Wara WM, Levln VA, Wilson CB. Primary cerebral neuroblastoma: Long-term follow-up review and therapeutic guidelines. J Neurosurg. 1983;59:418–423. Available from: https://doi.org/10.3171/jns.1983.59.3.0418
Torres LF, Grant N, Harding BN, Scaravilli F. Intracerebral neuroblastoma: Report of a case with neuronal maturation and long survival. Acta Neuropathol. 1985;68:110–114. Available from: https://doi.org/10.1007/bf00688631
Davis PC, Wichman RD, Takei Y, Hoffman JC. Primary cerebral neuroblastoma: CT and MR findings in 12 cases. AJNR Am J Neuroradiol. 1990;11:115–120. Available from: https://doi.org/10.2214/ajr.154.4.2107684
Etus V, Kurtkaya Ö, Sav A, Ilbay K, Ceylan S. Primary cerebral neuroblastoma: A case report and review. Tohoku J Exp Med. 2002;197:55–65. Available from: https://doi.org/10.1620/tjem.197.55
Yarýþ N, Yavuz MN, Reis A, Yavuz AA, Ökten A. Primary cerebral neuroblastoma: a case treated with adjuvant chemotherapy and radiotherapy. Turk J Pediatr. 2004;46:182–185. Available from: https://pubmed.ncbi.nlm.nih.gov/15214753/
Ren AJ, Ning HY, Lin W. Serial diffusion-weighted and conventional MR imaging in primary cerebral neuroblastoma treated with radiotherapy and chemotherapy: A case report and literature review. Neuroradiol J. 2014;27:417–421. Available from: https://doi.org/10.15274/NRJ-2014-10059
Mishra A, Beniwal M, Nandeesh BN, Srinivas D, Somanna S. Primary pediatric intracranial neuroblastoma: A report of two cases. J Pediatr Neurosci. 2018;13:366–370. Available from: https://doi.org/10.4103/JPN.JPN_68_18
Furuta T, Moritsubo M, Muta H, Koga M, Komaki S, Nakamura H, et al. Central nervous system neuroblastic tumor with FOXR2 activation presenting both neuronal and glial differentiation: A case report. Brain Tumor Pathol. 2020;37:100–104. Available from: https://doi.org/10.1007/s10014-020-00370-2
Taschner U, Diebold M, Shah MJ, Prinz M, Urbach H, Erny D, et al. Freiburg Neuropathology Case Conference: A 6-year-old girl presenting with vomiting and right-sided facial paresis. Clin Neuroradiol. 2021;31:885–892. Available from: https://doi.org/10.1007/s00062-021-010693
Sharkey B, Conner KM, McGarvey CR, Nair A, Dorn A, Reinard K, et al. Pediatric central nervous system (CNS) neuroblastoma: A case report. Surg Neurol Int. 2024;15:1–5. Available from: https://doi.org/10.25259/SNI_794_2023