Clinical, radiological, and anatomopathological characteristics of patients with atypical teratoid rhabdoid tumor at a national pediatric referral center in Lima, Peru
DOI:
https://doi.org/10.59594/iicqp.2026.v4n1.161Keywords:
Teratoid Tumor, Central Nervous System Neoplasms, Pediatrics, Immunohistochemistry, Diagnostic ImagingAbstract
Objective: To describe the clinical, radiological, and anatomopathological characteristics of patients diagnosed with atypical teratoid rhabdoid tumor (ATRT) treated at a national referral center in Lima, Peru.
Methods: Patients aged < 18 years diagnosed with ATRT and treated at the Instituto Nacional de Salud del Niño San Borja between 2017 and 2024 were included. Sociodemographic data, clinical manifestations, immunohistochemical findings, and computed tomography and magnetic resonance imaging findings at diagnosis were collected from medical records. Data analysis was performed using Microsoft Excel version 16.104.
Results: Fourteen patients were included, aged between 7 months and 12 years, with a predominance of males. The most frequent clinical manifestation was vomiting (85.7%), followed by hydrocephalus. The predominant tumor location was supratentorial (57.1%), followed by infratentorial and spinal locations. Imaging studies showed variable radiological presentations. Diagnosis was confirmed by immunohistochemistry in all cases, demonstrating loss of nuclear INI1 expression, and rhabdoid cells were identified in most cases (64.3%).
Conclusions: In our cohort, ATRTs showed variable clinical and radiological presentations. This study contributes to the characterization of this rare neoplasm in the national context.
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Meel MH, Guillén Navarro M, De Gooijer MC, Metselaar DS, Waranecki P, Breur M, et al. MEK/MELK inhibition and blood–brain barrier deficiencies in atypical teratoid/rhabdoid tumors. Neuro Oncol. 2020;22(1):58-69. doi: 10.1093/neuonc/noz151
Richardson EA, Ho B, Huang A. Atypical Teratoid Rhabdoid Tumour: From Tumours to Therapies. J Korean Neurosurg Soc. 2018;61(3):302-11. doi: 10.3340/jkns.2018.0061
Nesvick CL, Lafay-Cousin L, Raghunathan A, Bouffet E, Huang AA, Daniels DJ. Atypical teratoid rhabdoid tumor: molecular insights and translation to novel therapeutics. J Neurooncol. 2020;150(1):47-56. doi: 10.1007/s11060-020-03639-w
Gastberger K, Fincke VE, Mucha M, Siebert R, Hasselblatt M, Frühwald MC. Current Molecular and Clinical Landscape of ATRT - The Link to Future Therapies. Cancer Manag Res. 2023;15:1369-93. doi: 10.2147/CMAR.S379451
Guo G, Zhuang J, Zhang K, Zhou Z, Wang Y, Zhang Z. Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System in Children: Case Reports and Literature Review. Front Surg. 2022;9:864518. doi: 10.3389/fsurg.2022.864518
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(8):1231-51. doi: 10.1093/neuonc/noab106
Goulart Corrêa D, Rachid De Souza S, Ventura N, Camacho AH, Chimelli L, Gasparetto EL. Suprasellar atypical teratoid/rhabdoid tumor. J Neuroradiol. 2017;44(4):288-90. doi: 10.1016/j.neurad.2017.03.002
Ud Din N, Barakzai A, Memon A, Hasan S, Ahmad Z. Atypical Teratoid/Rhabdoid Tumor of Brain: a Clinicopathologic Study of Eleven Patients and Review of Literature. Asian Pac J Cancer Prev. 2017;18(4):949-54. doi: 10.22034/APJCP.2017.18.4.949
Wu HW, Wu CH, Lin SC, Wu CC, Chen HH, Chen YW, et al. MRI features of pediatric atypical teratoid rhabdoid tumors and medulloblastomas of the posterior fossa. Cancer Med. 2023;12(9):10449-61. doi: 10.1002/cam4.5780
Phuttharak W, Wannasarnmetha M, Wara-asawapati S, Yuthawong S. Diffusion MRI in Evaluation of Pediatric Posterior Fossa Tumors. Asian Pac J Cancer Prev. 2021;22(4):1129-36. doi: 10.31557/APJCP.2021.22.4.1129
Martínez Tamborini N, Báez A, Casas Parera I, Halfon MJ, Báez M, Blumenkrantz Y, et al. Tumores gliales del sistema nervioso: planificación y porcentaje de resección. Neurol Argent. 2013;5(2):129-32. doi: 10.1016/j.neuarg.2013.02.004
Nesvick CL, Nageswara Rao AA, Raghunathan A, Biegel JA, Daniels DJ. Case-based review: atypical teratoid/rhabdoid tumor. Neurooncol Pract. 2019;6(3):163-78. doi: 10.1093/nop/npy037
Park M, Han JW, Hahn SM, Lee JA, Kim JY, Shin SH, et al. Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System in Children under the Age of 3 Years. Cancer Res Treat. 2021;53(2):378-88. doi: 10.4143/crt.2020.756
Gupta NK, Godbole N, Sanmugananthan P, Gunda S, Kasula V, Baggett M, et al. Management of Atypical Teratoid/Rhabdoid Tumors in the Pediatric Population: A Systematic Review and Meta-Analysis. World Neurosurg. 2024;181:e504-15. doi: 10.1016/j.wneu.2023.10.089
Liu YL, Tsai ML, Chen CI, Yar N, Tsai CW, Lee HL, et al. Atypical Teratoid/Rhabdoid Tumor in Taiwan: A Nationwide, Population-Based Study. Cancers. 2022;14(3):668. doi: 10.3390/cancers14030668
Wang RF, Guan WB, Yan Y, Jiang B, Ma J, Jiang MW, et al. Atypical teratoid/rhabdoid tumours: clinicopathological characteristics, prognostic factors and outcomes of 22 children from 2010 to 2015 in China. Pathology (Phila). 2016;48(6):555-63. doi: 10.1016/j.pathol.2016.05.010
Ostrom QT, Chen Y, de Blank PM, Ondracek A, Farah P, Gittleman H, et al. The descriptive epidemiology of atypical teratoid/rhabdoid tumors in the United States, 2001-2010. Neuro Oncol. 2014;16(10):1392-9. doi: 10.1093/neuonc/nou090
Calandrelli R, Massimi L, Pilato F, Verdolotti T, Ruggiero A, Attinà G, et al. Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging Findings. Diagnostics (Basel). 2023;13(3):475. doi: 10.3390/diagnostics13030475
Al-Hussaini M, Dissi N, Souki C, Amayiri N. Atypical teratoid/rhabdoid tumor, an immunohistochemical study of potential diagnostic and prognostic markers. Neuropathology. 2016;36(1):17-26. doi: 10.1111/neup.12231
Sigauke E, Rakheja D, Maddox DL, Hladik CL, White CL, Timmons CF, et al. Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis. Mod Pathol. 2006;19(5):717-25. doi: 10.1038/modpathol.3800581
Kanoto M, Toyoguchi Y, Hosoya T, Kuchiki M, Sugai Y. Radiological Image Features of the Atypical Teratoid/Rhabdoid Tumor in Adults: A Systematic Review. Clin Neuroradiol. 2015;25(1):55-60. doi: 10.1007/s00062-013-0282-2
Parenrengi MA, Permana GI, Suryaningtyas W, Fauziah D. The aggressive progression of primary intracranial atypical teratoid/rhabdoid tumor after surgical resection: A case report. Int J Surg Case Rep. 2022;91:106790. doi: 10.1016/j.ijscr.2022.106790
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