一名长期存活儿童的具有独特分子特征和弥漫性软脑膜播散的非典型间变性星形细胞瘤。
Atypical anaplastic astrocytoma with unique molecular features and diffuse leptomeningeal spread in a child with long-term survival.
作者信息
Aghajan Yasmin, Malicki Denise M, Levy Michael L, Crawford John Ross
机构信息
School of Medicine, UC San Diego, La Jolla, California, USA.
Pathology, Rady Children's Hospital University of California San Diego, San Diego, California, USA.
出版信息
BMJ Case Rep. 2019 Feb 13;12(2):e228153. doi: 10.1136/bcr-2018-228153.
Paediatric high-grade gliomas, including glioblastoma and anaplastic astrocytoma, make up 8%-12% of paediatric central nervous system tumours and have poor prognosis, with 2-year survival less than 30% and overall survival less than 10%. The only known prognostic factors in this population include extent of resection and tumour histological grade. We present the case of a 9-year-old boy with disseminated anaplastic astrocytoma treated with subtotal resection, craniospinal radiation and temozolomide, with 8-year survival despite metastatic disease at presentation and subtotal resection. Next generation cancer gene panel sequencing revealed an usual pattern of 12 amplifications and four mutations not previously described.
儿童高级别胶质瘤，包括胶质母细胞瘤和间变性星形细胞瘤，占儿童中枢神经系统肿瘤的8%-12%，预后较差，2年生存率低于30%，总生存率低于10%。该人群中唯一已知的预后因素包括切除范围和肿瘤组织学分级。我们报告了一例9岁男孩，患有播散性间变性星形细胞瘤，接受了次全切除、颅脊髓放疗和替莫唑胺治疗，尽管初诊时存在转移性疾病且为次全切除，但仍存活了8年。下一代癌症基因panel测序揭示了12个扩增和4个以前未描述的突变的异常模式。
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