MN1-CXXC5融合转录物的组织病理学不典型星形母细胞瘤的甲基化分类诊断

Wallace Gerald C, Macaulay Robert JB, Etame Arnold B, Aldape Kenneth, Pina Yolanda
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引用次数: 1

摘要

成人星形母细胞瘤是一种极为罕见的原发性脑肿瘤。以前的报告已经提出了这些肿瘤的各种典型的放射学和组织学特征,但诊断可能具有挑战性。我们提出一个独特的病例星形母细胞瘤诊断后13年的治疗作为中枢神经系统胚胎性肿瘤。组织学上,该肿瘤缺乏先前确定的星形母细胞特征,如假小簇、小梁状结构和透明化血管。肿瘤为synaptophysin阳性,进一步混淆了本病例的诊断。甲基化分类与CXXC5-MN1融合的高级别神经上皮肿瘤进行了高可信度匹配。分子鉴定证实了CXX5-MN1融合转录物,这在至少一个其他实例中已经看到。虽然已知CXXC5和MN1参与肿瘤发生,但在这种情况下,其作用仍不清楚。我们讨论了这种肿瘤的不寻常的组织病理学特征和最近更新的WHO中枢神经系统肿瘤分子诊断方案的价值。我们也简要回顾了星状母细胞瘤的相关文献。目前的病例强调了我们对星形母细胞瘤的非典型组织学模式的不断认识,以及有助于诊断的新分子谱的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Histopathologically atypical astroblastoma with MN1-CXXC5 fusion transcript diagnosed by methylation classifier
Adult astroblastoma is an exceedingly rare primary brain tumor. Previous reports have suggested various radiographic and histological features typical for these tumors, but the diagnosis can be challenging. We present a unique case of astroblastoma diagnosed after 13 years of treatment as a CNS embryonal neoplasm. Histologically, this tumor lacked previously identified astroblastic features such as pseudorosettes, trabeculated patterns, and hyalinized vessels. The tumor was synaptophysin positive which further confounded the diagnosis in this case. Methylation classification was performed with a high confidence match to a high-grade neuroepithelial neoplasm with a CXXC5-MN1 fusion. Molecular characterization confirmed a CXX5-MN1 fusion transcript which has been seen in at least one other instance. Though known to be involved in tumorigenesis, the roles of CXXC5 and MN1, in this case, remain unclear. We discuss the unusual histopathological features of this tumor and the value of recent updates to the WHO molecular diagnosis scheme for central nervous system tumors. We also briefly review the literature related to astroblastoma. The current case highlights our evolving recognition of atypical histological patterns for astroblastoma and the importance of new molecular profiles which can aid in the diagnosis.
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