Central nervous system atypical teratoid/ rhabdoid tumor with retained INI-1: a pediatric case
Tumor rabdoide teratoide atípico del sistema nervioso central con INI1 positivo : presentación de un caso pediátrico.
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Central nervous system atypical teratoid/ rhabdoid tumor with retained INI-1: a pediatric case.
Rev. colomb. hematol. oncol. [Internet]. 2020 Aug. 1 [cited 2024 Dec. 22];7(2):52-5. Disponible en: https://doi.org/10.51643/22562915.110
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We report a case of AT/RT in an 11 years old female, with a retained expression of INI1 by immunohistochemistry and loss of expression of BRG1 protein by immunohistochemistry. Genetic tests reveal no alteration related to chromosome 22. Complete resection of the lesion was performed, then she received chemotherapy and radiotherapy treatment. She is in remission 3 years following completion of treatment. This case shows that positivity for INI1 in immunohistochemistry, does not rule out a diagnosis of AT/RT, and additional testing, like BRG1 protein by immunohistochemistry, could be useful to establish the diagnosis.
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- Tsai C, Wong T, Lee Y, Chao M, Lin S, et al. Intact INI1 gene region with paradoxical loss of protein expression in AT/RT: implications for a possible novel mechanism associated with absence of INI1 protein immunoreactivity. Am J Surg Pathol [Internet]. 2012;36(1):128-33. https://doi.org/10.1097/PAS.0b013e3182348cc4.
- Ryzhova M, Kadyrov S, Kumirova E, Shishkina L, Nikitin P, et al. Central nervous system atypical teratoid/rhabdoid tumor without loss of nuclear expression of INI1. Arkh Patol [Internet]. 2019;81(2):36-42. https://doi.org/10.17116/patol20198102136
- Bush J, Hancock B, Israels S, Ellison D, Stefanovici C, et al. Intracranial Atypical Teratoid/Rhabdoid Tumor Presenting as an Axillary Mass: A Case Report and Review of Literature. Pediatric and Developmental Pathology [Internet]. 2014;17(2):122–125. https://doi.org/10.2350/14-01-1427-CR.1
- Lafay L, Hawkins C, Carret A, Johnston D, Zelcer S, et al. Central nervous system atypical teratoid rhabdoid tumours: The Canadian Paediatric Brain Tumour Consortium experience. Eur J Cancer [Internet]. 2012;48(3):353–359. https://doi.org/10.1016/j.ejca.2011.09.005
- Buscariollo D, Park H, Roberts K, Yu J. Survival outcomes in atypical teratoid rhabdoid tumour for patients undergoing radiotherapy in a surveillance, epidemiology, and end results analysis. Cancer [Internet]. 2012;118(17):4212–4219. https://doi.org/10.1002/cncr.27373
- Haberler C, Laggner U, Slavc I, et al. Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype. Am J Surg Pathol [Internet]. 2006;30(11):1462–1468. https://doi.org/10.1097/01.pas.0000213329.71745.ef
- Bookhout C, Bouldin T, Ellison D. Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4). Neuropathology [Internet]. 2018;38(3):305-308. https://doi.org/10.1111/neup.12452
- Hasselblatt M, Nagel I, Oyen F, et al. SMARCA4 mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Acta Neuropathol [Internet]. 2014;128(3):453–456. https://doi.org/10.1007/s00401-014-1323-x
- Biegel J, Tan L, Zhang F, et al. Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. Clin Cancer Res. 2002; 8(11):3461-7. PMID: 12429635
- Lee R, Stewart C, Carter S, et al.: A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. J Clin Invest [Internet]. 2012; 122(8): 2983-8. https://doi.org/10.1172/JCI64400
- PDQ® sobre el tratamiento pediátrico. PDQ Tratamiento del tumor teratoideo/rabdoide atípico del sistema nervioso central infantil. Bethesda, MD: National Cancer Institute. [Internet] Actualización: 03/01/2020. Disponible en: https://www.cancer.gov/espanol/tipos/cerebro/pro/tratamiento-atrt-snc-infantil-pdf
- Rao S, Konar S, Shukla D, Bhat D, Beniwal M, et al. Factors Influencing Survival of Children with Atypical Teratoid/Rhabdoid Tumors: A Single-Institute Experience in a Developing Country. World Neurosurg [Internet]. 2019;129:e264-e272. https://doi.org/10.1016/j.wneu.2019.05.126
- Nesvick C, Nageswara, Raghunathan A, Biegel J, Daniels D. Case-based review: atypical teratoid/rhabdoid tumor. Neuro-Oncology Practice [Internet]. 2018;6(3):163–178. https://doi.org/10.1093/nop/npy037
- Meena R, Doddamani R, Chipde H, Mahajan S, Chandra S, et al. Primary spinal atypical teratoid/rhabdoid tumour presenting with hematomyelia and subarachnoid haemorrhage-a case report. Childs Nerv Syst [Internet]. 2019 Oct 29. https://doi.org/10.1007/s00381-019-04412-9. [Epub ahead of print]
- ChoiJ, Kang H, Hong K, Hong C, Lee Y, et al. Tandem high-dose chemotherapy with topotecan–thiotepa–carboplatin and melphalan–etoposide–carboplatin regimens for pediatric high-risk brain tumors. Int J Clin Oncol [Internet]. 2019; 24(12): 1515–1525. https://doi.org/10.1007/s10147-019-01517-8
- Ishisaka E, Usami K, Kiyotani C, Terashima K, Ogiwara H. Neoadjuvant chemotherapy for atypical teratoid rhabdoid tumors (AT/RTs). Child's Nervous System [Internet]. 2020:(36):721–727. https://doi.org/10.1007/s00381-019-04422-7
- Quinn T, Almahariq M, Siddiqui Z, Thompson A, Hamstra D, et al. Trimodality therapy for atypical teratoid/rhabdoid tumor is associated with improved overall survival: A surveillance, epidemiology, and end results analysis Pediatr Blood Cancer [Internet]. 2019;66(12):e27969. https://doi.org/10.1002/pbc.27969
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