The Transcriptomic Landscape of Pediatric Astrocytoma. The Transcriptomic Landscape of Pediatric Astrocytoma

Tumors of the central nervous system are the most common solid neoplasia during human childhood, representing one of the leading causes of cancer-related mortality. Tumors that originate from astrocyte cells (astrocytoma) in the brain are the most frequently found. According to their histological and pathological features, these tumors are classified into four categories. However, recently an extra layer of molecular classification of the tumorigenesis-associated genes IDH1/2 and H3F3A has been incorporated into the classification guidelines. While mutations in H3F3A are exclusively found in a subtype of pediatric astrocytoma grade IV, mutations in IDH1/2 are very rare in children younger than 14 years old. The transcriptomic profiles of astrocytoma in adults and children have been extensively studied however focusing on the study of the transcriptomic profile of the different grades of astrocytoma (including the additional layer of molecular classification) in pediatric populations are scarce. Therefore, we have profiled the transcriptomic landscape of the four grades of pediatric astrocytoma by RNA sequencing. Overall design: Next Generation Sequencing of total RNA from 15 biopsies of pediatric astrocytoma from cerebrum and cerebellum and five healthy matching tissues

中枢神经系统肿瘤是人类儿童时期最常见的实体性新生物，亦是癌症相关死亡的主要诱因之一。起源于大脑星形胶质细胞的星形细胞瘤（astrocytoma）最为多见。根据组织学与病理学特征，该类肿瘤可分为四大类。但近年来，与肿瘤发生相关的IDH1/2及H3F3A基因的分子分型分层已被纳入分类指南。其中，H3F3A突变仅见于Ⅳ级儿童星形细胞瘤的特定亚型，而IDH1/2突变在14岁以下儿童中极为罕见。此前已有大量研究针对成人与儿童星形细胞瘤的转录组谱展开分析，但聚焦于儿童人群中不同级别星形细胞瘤（含新增分子分型分层）的转录组特征研究仍较为匮乏。为此，本研究通过RNA测序技术对四类儿童星形细胞瘤的转录组全景进行了表征分析。整体实验设计：对取自大脑及小脑的15例儿童星形细胞瘤活检样本，以及5例匹配健康组织的总RNA进行二代测序（Next Generation Sequencing）。