Appaji L, Aruna Kumari B S, Babu K Govind, Premalata C S, Pramod K P R, Bhat Gita R, Prem Chinchu
Department of Paediatric Oncology, Kidwai Memorial Institute of Oncology, Bengaluru, Karnataka, India.
Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bengaluru, Karnataka, India.
J Cancer Res Ther. 2017 Oct-Dec;13(6):1015-1022. doi: 10.4103/0973-1482.174536.
Atypical teratoid rhabdoid tumors (AT/RT) constitute a rare group of pediatric brain tumors.
To study the clinical, histopathological, and immunohistochemical (IHC) profile, management and outcome of children with AT/RT of the central nervous system who presented between the years 2007 and 2015 in a regional tertiary care center in South India.
This was a retrospective study. Demographic and clinical data were obtained from the clinical case files. Archived slides and tissue blocks were retrieved. All cases had hematoxylin and eosin stained sections. IHC was available in all the cases.
There were eight cases with the mean age of presentation being 4 years (range: 4 months to 15 years) and with slight male predominance (male:female = 1.66:1). Most of the presenting complaints were due to raised intra-cranial tension. The median duration of symptoms was 0.75 months. About 62.5% of the tumors were infratentorial in location. The tumors were heterogeneous showing variable expression of cytokeratin, epithelial membrane antigen, glial fibrillary acid protein, and synaptophysin. Loss of integrase interactor-1 expression was demonstrated in seven cases in which it was done. Multimodal treatment comprising surgical resection, radiotherapy and chemotherapy was tailored based on location of tumor, resectability and patient's age. The median overall survival was 2.5 months (range: 1.5-30 months).
Awareness of this tumor is important as it portends a poor outcome in most patients, in spite of multi-modal treatment. Several new molecules which aim to prolong survival and improve quality of life are being developed to combat this enigmatic tumor.
非典型畸胎样横纹肌样瘤（AT/RT）是一组罕见的儿童脑肿瘤。
研究2007年至2015年间在印度南部一家地区三级医疗中心就诊的中枢神经系统AT/RT患儿的临床、组织病理学和免疫组化（IHC）特征、治疗及预后。
这是一项回顾性研究。从临床病例档案中获取人口统计学和临床数据。检索存档的玻片和组织块。所有病例均有苏木精和伊红染色切片。所有病例均进行了免疫组化检测。
共8例，平均发病年龄为4岁（范围：4个月至15岁），男性略占优势（男:女 = 1.66:1）。大多数就诊主诉是由于颅内压升高。症状的中位持续时间为0.75个月。约62.5%的肿瘤位于幕下。肿瘤具有异质性，细胞角蛋白、上皮膜抗原、胶质纤维酸性蛋白和突触素表达各异。在7例进行检测的病例中显示整合酶相互作用因子-1表达缺失。根据肿瘤位置、可切除性和患者年龄制定了包括手术切除、放疗和化疗在内的多模式治疗方案。中位总生存期为2.5个月（范围：1.5 - 30个月）。
尽管进行了多模式治疗，但由于大多数患者预后不良，认识这种肿瘤很重要。目前正在研发几种旨在延长生存期和改善生活质量的新分子来对抗这种神秘的肿瘤。
