Neuro-Oncology Unit, Haemato-Oncology and Neurosurgery Department, Giannina Gaslini Children's Research Hospital, Genova, Italy.
Pediatr Blood Cancer. 2010 Apr;54(4):647-8. doi: 10.1002/pbc.22377.
Atypical teratoid/rhabdoid tumors (AT/RTs) of the CNS have been recently characterized as a distinct clinicopathologic entity with an unusually poor prognosis and with the highest incidence in the first 2 years of life. It often arises in the posterior fossa and its distinctive immunohistochemical (negative stain for INI-1) and cytogenetic features (monosomy or deletion of chromosome 22) permit an adequate diagnosis in most of cases. AT/RT of the CNS is a usually fatal disease virtually unresponsive to chemotherapy (CT) and radiotherapy (RT). Rapid progression and CNS dissemination are commonly reported. Whether combined regimens including high-dose CT are able to prolong survival or change the natural history of this tumor are under evaluation.
中枢神经系统（CNS）的非典型畸胎样/横纹肌样肿瘤（AT/RTs）最近被认为是一种独特的临床病理实体，具有异常不良的预后，并且发病率在生命的头 2 年最高。它通常发生在后颅窝，其独特的免疫组织化学（INI-1 阴性染色）和细胞遗传学特征（22 号染色体单体或缺失）允许在大多数情况下进行充分诊断。CNS 的 AT/RT 是一种通常致命的疾病，对化疗（CT）和放疗（RT）几乎没有反应。快速进展和 CNS 播散是常见的报道。包括高剂量 CT 的联合方案是否能够延长生存或改变这种肿瘤的自然史正在评估中。
