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Meta-Analysis
. 2022 Mar;157(1):1-14.
doi: 10.1007/s11060-022-03959-z. Epub 2022 Feb 25.

Atypical teratoid/rhabdoid tumor in adults: a systematic review of the literature with meta-analysis and additional reports of 4 cases

Giuseppe Broggi  1 , Francesca Gianno  2 , Doron Theodore Shemy  2 , Maura Massimino  3 , Claudia Milanaccio  4 , Angela Mastronuzzi  5 , Sabrina Rossi  6 , Antonietta Arcella  7 , Felice Giangaspero  2   7 , Manila Antonelli  8
Affiliations
Meta-Analysis

Atypical teratoid/rhabdoid tumor in adults: a systematic review of the literature with meta-analysis and additional reports of 4 cases

Giuseppe Broggi et al. J Neurooncol. 2022 Mar.

Abstract

Introduction: Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive embryonal CNS neoplasm, characterized by inactivation of SMARCB1 (INI1) or rarely of SMARCA4 (BRG1). While it is predominantly a childhood tumor, AT/RT is rare in adults.

Methods: We provide a comprehensive systematic review of literature with meta-analysis; 92 adult cases were found from 74 articles. We additionally present 4 cases of adult AT/RTs (age ranging from 19 to 29 years), located to cerebellum in 2 cases, to ponto-cerebellar angle in 1 case and to spinal cord in the remaining case.

Results: Microscopic features of our 4 cases showed a highly cellular tumor with rhabdoid morphology and high mitotic activity. All tumor cells lacked nuclear SMARCB1/INI1 protein expression. In case no. 3 we also performed methylation profiling which clustered the tumor with pediatric AT/RT-MYC subgroup. Prognosis remains poor in both pediatric and adult population with a median overall survival of 11 months. Our review demonstrated median overall survival of 15 months among the adult populations. However, consistent with a recent review, adult AT/RT seems to have highly variable prognosis and some patients reach long term survival with 22.9% of 5-year survival without evidence of disease and mean follow up time of 35.9 months (SD = 36.5). 27.1% of dissemination was also reported among the adult population.

Conclusions: Adult AT/RTs predominantly arise in female patients and in supratentorial location. Midline structures, including the sellar region, are the most affected sites, especially among females aged > 40 years. Male gender is more prevalent between the age of 18 and 40 years and more frequently associated with non-midline tumors. Factors significantly associated with better prognosis are patient's age (< 40 years), combined radio-chemotherapy adjuvant approach and Ki-67 score < 40%.

Keywords: AT/RT; Adults; Atypical teratoid/rhabdoid tumor; Meta-analysis; Systematic review.

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References

    1. Rorke LB, Packer RJ, Biegel JA (1996) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 85:56–65. https://doi.org/10.3171/jns.1996.85.1.0056 - DOI - PubMed
    1. 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 - DOI - PubMed
    1. 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 - DOI - PubMed
    1. Biswas S, Wood M, Joshi A, Bown N, Strain L, Martinsson T, Campbell J, Ashworth A, Swain A (2015) Exome sequencing of an adult pituitary atypical teratoid rhabdoid tumor. Front Oncol 5:236. https://doi.org/10.3389/fonc.2015.00236 - DOI - PubMed - PMC
    1. Ahmad M, Sekar V, Healy E, Rennie I, Cooke S (2019) Case report: the unusual case of a sellar/suprasellar extrarenal rhabdoid tumour in an adult. Interdiscip Neurosurg 17:36–39. https://doi.org/10.1016/j.inat.2019.01.014 - DOI

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