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%.

Atypical teratoid/rhabdoid tumor in adults: a systematic review of the literature with meta‑analysis and additional reports of 4 cases / Broggi, Giuseppe; Gianno, Francesca; Theodore Shemy, Doron; Massimino, Maura; Milanaccio, Claudia; Mastronuzzi, Angela; Rossi, Sabrina; Arcella, Antonietta; Giangaspero, Felice; Antonelli, Manila. - In: JOURNAL OF NEURO-ONCOLOGY. - ISSN 1573-7373. - 157:1(2022), pp. 1-14. [10.1007/s11060-022-03959-z]

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

Francesca Gianno
Secondo
;
Felice Giangaspero
Penultimo
;
Manila Antonelli
Ultimo
2022

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%.
2022
atypical teratoid/rhabdoid tumor; AT/RT; adults; systematic review; meta-analysis
01 Pubblicazione su rivista::01g Articolo di rassegna (Review)
Atypical teratoid/rhabdoid tumor in adults: a systematic review of the literature with meta‑analysis and additional reports of 4 cases / Broggi, Giuseppe; Gianno, Francesca; Theodore Shemy, Doron; Massimino, Maura; Milanaccio, Claudia; Mastronuzzi, Angela; Rossi, Sabrina; Arcella, Antonietta; Giangaspero, Felice; Antonelli, Manila. - In: JOURNAL OF NEURO-ONCOLOGY. - ISSN 1573-7373. - 157:1(2022), pp. 1-14. [10.1007/s11060-022-03959-z]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1677448
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