Abstract
Background
Atypical teratoid/rhabdoid tumours (AT/RT) are uncommon but aggressive, malignant tumours in the paediatric age group. Presentation of concomitant supratentorial and infratentorial lesions in an infant is extremely rare. We discuss an infant diagnosed with such lesions. Systematic PubMed search was conducted using keywords ‘atypical teratoid /rhabdoid tumor’, ‘paediatric’ and ‘multifocal’. Reports were included for patients younger than 18 years with two or more lesions. The search yielded additional five cases and were tabulated. Age, sex, location, treatment given and survival/outcome were noted.
Case report
A 10-month-old child presented with complaints of drowsiness and intractable vomiting. Imaging showed multifocal supra- and infratentorial lesions with obstructive hydrocephalus. The child underwent ventriculoperitoneal shunt followed by surgical removal of the posterior fossa lesion. Histopathological features were consistent with AT/RT.
Conclusions
Multifocal AT/RT are very rare. The impact of multifocality in the outcome is not known as very few reports are available. Newer targeted therapies may offer insight in improving outcomes in the future.
Similar content being viewed by others
References
Ostrom QT, Chen YM, de Blank P, Ondracek A, Farah P, Gittleman H et al (2014) The descriptive epidemiology of atypical teratoid/rhabdoid tumors in the United States, 2001-2010. Neuro Oncol 16(10):1392–1399
Radner H, Blümcke I, Reifenberger G, Wiestler OD (2002) The new WHO classification of tumors of the nervous system 2000. Pathology and genetics. Pathologe 23(4):260–283
Masoudi MS, Derakhshan N, Ghaffarpasand F, Geramizadeh B, Heydari M (2016) Multifocal atypical teratoid/rhabdoid tumor: a rare entity. Childs Nerv Syst 32(12):2287–2288
Silva AHD, Habermann S, Craven CL, Bhagawati D, O’Hare P, Jorgensen M et al (2023) Atypical teratoid rhabdoid tumours (ATRTs)—a 21-year institutional experience. Child’s Nerv Syst 39(6):1509–1518
Judkins AR, Mauger J, Ht A, Rorke LB, Biegel JA (2004) Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol 28(5):644–650
Hasselblatt M, Gesk S, Oyen F, Rossi S, Viscardi E, Giangaspero F et al (2011) Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Am J Surg Pathol 35(6):933–935
Paun L, Lavé A, Jannelli G, Egervari K, Janssen I, Schaller K et al (2023) Pediatric posterior fossa ATRT: a case report, new treatment strategies and perspectives. Brain Sci 13(5):712
Minh Thong P, Minh Duc N (2020) The role of apparent diffusion coefficient in the differentiation between cerebellar medulloblastoma and brainstem glioma. Neurol Int 12(3):34–40
Koral K, Gargan L, Bowers DC, Gimi B, Timmons CF, Weprin B et al (2008) Imaging characteristics of atypical teratoid–rhabdoid tumor in children compared with medulloblastoma. Am J Roentgenol 190(3):809–814
Guo G, Zhuang J, Zhang K, Zhou Z, Wang Y, Zhang Z (2022) Atypical teratoid/rhabdoid tumor of the central nervous system in children: case reports and literature review. Front Surg 9:864518
Hilden JM, Meerbaum S, Burger P, Finlay J, Janss A, Scheithauer BW et al (2004) Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. J Clin Oncol 22(14):2877–2884
Jin B, Feng XY (2013) MRI features of atypical teratoid/rhabdoid tumors in children. Pediatr Radiol 43:1001–1008
Duc NM (2023) A rare case of multifocal atypical teratoid rhabdoid tumor. Radiol Case Rep 18(2):495–498
Burger PC, Yu IT, Tihan T, Friedman HS, Strother DR, Kepner JL et al (1998) Atypical teratoid/ rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a Pediatric Oncology Group study. Am J Surg Pathol 22
Rorke LB, Packer RJ, Biegel JA (1996) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 85
Mohapatra I, Santosh V, Chickabasaviah YT, Mahadevan A, Tandon A, Ghosh A, Chidambaram B, Sampath S, Bhagavatula ID, Chandramouli BA, Kolluri SV, Shankar SK (2010) Histological and immunohistochemical characterization of AT/RT: a report of 15 cases from India. Neuropathology 30(3):251–259
Author information
Authors and Affiliations
Contributions
AP, LP, GV and DN wrote the main manuscript text. All authors reviewed the manuscript.
Corresponding author
Ethics declarations
Conflict of Interests
The authors declare no competing interests.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.
About this article
Cite this article
Pai, A., Prasad, G.L., Vasudevan, G. et al. Multifocal atypical teratoid/rhabdoid tumour in an infant—a rare case report. Childs Nerv Syst 40, 1591–1596 (2024). https://doi.org/10.1007/s00381-023-06274-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00381-023-06274-8