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首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >Lack of IDH1 mutation in astroblastomas suggests putative origin from ependymoglial cells?
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Lack of IDH1 mutation in astroblastomas suggests putative origin from ependymoglial cells?

机译：星形母细胞瘤中IDH1突变的缺乏提示推定来源于上皮神经胶质细胞吗？

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摘要

Astroblastomas are extremely rare neuroepithelial tumors of uncertain histogenesis, affecting children and young adults, and constitute a new addition to the WHO 2000 classification of CNS tumors. We report the largest series of nine cases diagnosed in a single institute over the last 13 years and review published literature. Mean age at presentation was 12.8 years (range: 22 months to 27years). Seven out of nine cases were supratentorial (frontal/frontoparietal - three, parieto-occipital - three, parafalcine - one), one was intraventricular and another was optochaismatic/suprasellar. Five cases were high grade (anaplastic) astroblastomas with Ki-67 labeling index of 8-10%. Immunohistochemical and ultrastructural evidence suggesting origin from cells intermediate between ependymocytes and astrocytes is presented. The histogenetic origin of these tumors remains speculative. But the lack of Isocitrate dehydrogenase 1 (IDH1) mutation as detected by immunohistochemistry in this study, which is similar to ependymomas supports putative origin from ependymoglial cells. Out of the nine cases, recurrence was noted in one case, 12 months after gross total resection with progression to high grade in the recurrent tumor. There is no recommended treatment protocol due to the rarity of this entity and prognostic factors are yet to be established.
机译：星形细胞瘤是一种罕见的组织发生不确定的神经上皮肿瘤，会影响儿童和年轻人，并且构成了WHO 2000中枢神经系统肿瘤分类的新成员。我们报告了过去13年中在单个机构中诊断出的最大9例病例，并回顾了已发表的文献。演讲时的平均年龄为12.8岁（范围：22个月至27岁）。 9例病例中有7例是幕上病变（额/前额叶-3例，顶枕-3例，帕拉法辛-1例），其中1例为脑室内，另1例为视锥/上睑。 5例为高级别（间变性）星形母细胞瘤，Ki-67标记指数为8-10％。免疫组织化学和超微结构证据表明，起源于表皮细胞和星形胶质细胞之间的细胞。这些肿瘤的组织遗传学起源仍是推测性的。但是，通过免疫组织化学在这项研究中检测到的异柠檬酸脱氢酶1（IDH1）突变的缺乏，这与室管膜瘤相似，支持了假定的上皮神经胶质细胞来源。在这9例病例中，有1例在完全切除后12个月出现复发，而在复发性肿瘤中进展为高级别。由于该实体的稀有性，尚无推荐的治疗方案，尚待确定预后因素。

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