Bruzek Amy K, Zureick Andrew H, McKeever Paul E, Garton Hugh J L, Robertson Patricia L, Mody Rajen, Koschmann Carl J
Department of Neurosurgery, University of Michigan Medical School, Ann Arbor, Michigan.
Medical School, University of Michigan Medical School, Ann Arbor, Michigan.
Pediatr Blood Cancer. 2017 Jun;64(6). doi: 10.1002/pbc.26346. Epub 2016 Nov 10.
Pediatric spinal oligodendrogliomas are rare and aggressive tumors. They do not share the same molecular features of adult oligodendroglioma, and no previous reports have examined the molecular features of pediatric spinal oligodendroglioma. We present the case of a child with a recurrent spinal anaplastic oligodendroglioma. We performed whole exome (paired tumor and germline DNA) and transcriptome (tumor RNA) sequencing, which revealed somatic mutations in NF1 and FGFR1. These data allowed us to explore potential personalized therapies for this patient and expose molecular drivers that may be involved in similar cases.
小儿脊髓少突胶质细胞瘤是罕见的侵袭性肿瘤。它们不具有成人少突胶质细胞瘤相同的分子特征，且此前没有关于小儿脊髓少突胶质细胞瘤分子特征的报道。我们报告了一例复发性脊髓间变性少突胶质细胞瘤患儿的病例。我们进行了全外显子组（配对的肿瘤和胚系DNA）及转录组（肿瘤RNA）测序，结果显示NF1和FGFR1存在体细胞突变。这些数据使我们能够探索针对该患者的潜在个性化治疗方法，并揭示可能与类似病例相关的分子驱动因素。
