Broggi Giuseppe, Gianno Francesca, Shemy Doron Theodore, Massimino Maura, Milanaccio Claudia, Mastronuzzi Angela, Rossi Sabrina, Arcella Antonietta, Giangaspero Felice, Antonelli Manila
Department of Medical, Surgical Sciences and Advanced Technologies "G.F. Ingrassia", Anatomic Pathology, University of Catania, 95123, Catania, Italy.
Department of Radiological, Oncological and Anatomo-Pathological Sciences, University Sapienza, Viale Regina Elena 324, 00161, Rome, Italy.
J Neurooncol. 2022 Mar;157(1):1-14. doi: 10.1007/s11060-022-03959-z. Epub 2022 Feb 25.
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.
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.
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.
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%.
非典型畸胎样/横纹肌样瘤（AT/RT）是一种侵袭性很强的胚胎性中枢神经系统肿瘤，其特征是SMARCB1（INI1）失活，很少情况下是SMARCA4（BRG1）失活。虽然它主要是儿童肿瘤，但在成人中很少见。
我们对文献进行了全面的系统综述并进行荟萃分析；从74篇文章中发现了92例成人病例。我们还报告了4例成人AT/RT（年龄在19至29岁之间），2例位于小脑，1例位于桥小脑角，其余1例位于脊髓。
我们4例病例的显微镜下特征显示为细胞丰富的肿瘤，具有横纹肌样形态和高有丝分裂活性。所有肿瘤细胞均缺乏核SMARCB1/INI1蛋白表达。在病例3中，我们还进行了甲基化分析，结果显示该肿瘤与儿童AT/RT-MYC亚组聚类。儿童和成人患者的预后仍然很差，总生存期的中位数为11个月。我们的综述显示成人患者的总生存期中位数为15个月。然而，与最近的一项综述一致，成人AT/RT的预后似乎高度可变，一些患者实现了长期生存，5年无病生存率为22.9%，平均随访时间为35.9个月（标准差=36.5）。在成人患者中还报告了27.1%的播散情况。
成人AT/RT主要发生在女性患者和幕上部位。中线结构，包括鞍区，是受影响最严重的部位，尤其是在40岁以上的女性中。男性在18至40岁之间更为常见，且更常与非中线肿瘤相关。与较好预后显著相关的因素包括患者年龄（<40岁）、放化疗联合辅助治疗方法以及Ki-67评分<40%。
