Atypical teratoid/rhabdoid tumor of the central nervous system: A highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma - A pediatric oncology group study
Atypical teratoid/rhabdoid tumor of the central nervous system: A highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma - A pediatric oncology group study
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DOI：
10.1097/00000478-199809000-00007
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发表时间：
1998-09-01
影响因子：
5.6
通讯作者：
Perlman, EJ
中科院分区：
文献类型：
--
作者：
Burger, PC;Yu, IT;Perlman, EJ
55例中枢神经系统非典型畸胎瘤样/横纹肌样肿瘤进行了研究，以确定这种新描述的肿瘤的临床和病理特征。病变主要发生在2岁以下的儿童（诊断时的平均年龄为17个月）。肿瘤位于后颅窝（36例患者）和幕上室（17例患者），或在两个室中呈多灶性（2例患者）。组织学上，肿瘤由小细胞和大的苍白细胞组成，排列杂乱。小细胞成分类似髓母细胞瘤，偶尔在粘液背景中有细胞索，类似脉络膜。较大细胞的细胞质明显，有点“横纹肌样”的外观，但横纹肌样特征并不总是突出的。在少数病变中观察到上皮样特征，其形式为形成不良的腺体或Flexner-Wintersteiner结节。肿瘤表现出显着的多表型免疫反应，包括波形蛋白，胶质细胞酸性蛋白，上皮膜抗原，细胞角蛋白，突触素，嗜铬粒蛋白，平滑肌肌动蛋白。使用22号染色体探针，8个可评分病例中有7个通过荧光原位杂交（FISH）显示与单体22一致的孤立信号。第8例可评分病例荧光原位杂交显示3个信号，常规细胞遗传学报告22号染色体易位。与髓母细胞瘤患者相反，这些病变经常与肿瘤混淆，患者的结局一致较差。非典型畸胎样/横纹肌样肿瘤患者的平均术后生存期仅为11个月。局部复发、脑脊液通路的接种或两者都是常见的终末事件。这项研究强调了这种异常侵袭性肿瘤独特的临床、组织病理学、免疫组化和细胞遗传学特征。
Fifty-five patients with atypical teratoid/rhabdoid tumors of the central nervous system were studied to define the clinical and pathologic features of this newly described neoplasm. The lesion occurred primarily in children younger than 2 (mean age at diagnosis, 17 months). The neoplasms were located in the posterior fossa (36 patients) and the supratentorial compartment (17 patients) or were multifocal in both compartments (2 patients) at presentation. Histologically, the tumors were composed of small cells and large, pale cells in a jumbled architectural arrangement. The small cell component resembled medulloblastoma and occasionally had cords of cells in a mucinous background, simulating chordoma. The cytoplasm of the larger cells was conspicuous with a somewhat ''rhabdoid'' appearance, although rhabdoid features were not always prominent. Epithelioid features in the form of poorly formed glands or Flexner-Wintersteiner rosettes were noted in a minority of lesions. The neoplasms showed striking polyphenotypic immunoreactivity, including that for vimentin, glial fibrillary acidic protein, epithelial membrane antigen, cytokeratins, synaptophysin, chromogranin, and smooth muscle actin. Using a probe for chromosome 22, seven of eight scorable cases showed a solitary signal by fluorescence in situ hybridization (FISH) consistent with monosomy 22. The eighth scorable case showed three signals by fluorescence in situ hybridization and had a translocation involving chromosome 22 reported by conventional cytogenetics. In contrast to patients with medulloblastoma, the neoplasm with which these lesions are often confused, the outcome of the patients was uniformly poor. The mean postoperative survival of patients with atypical teratoid/rhabdoid tumors was only 11 months. Local recurrence, seeding of the cerebrospinal fluid pathways, or both, were common terminal events. This study underscores the distinctive clinical, histopathologic, immunohistochemical, and cytogenetic character of this unusually aggressive tumor.