Zureick Andrew H, McFadden Kathryn A, Mody Rajen, Koschmann Carl
University of Michigan Medical School, Michigan Medicine, Ann Arbor, Michigan, USA.
Department of Radiation Oncology, Beaumont Health System, Royal Oak, Michigan, USA.
BMJ Case Rep. 2019 May 31;12(5):e227734. doi: 10.1136/bcr-2018-227734.
A 14-year-old boy with familial Li-Fraumeni syndrome presented with diplopia. Brain MRI revealed a right temporoparietal rim-enhancing mass. Following surgical resection and diagnosis of a gigantocellular-type glioblastoma multiforme (GBM), his family wished to avoid cytotoxic chemotherapy given the amplified risk of secondary malignancy. As such, we performed whole exome and transcriptome sequencing, which revealed germline and somatic mutations. On completion of adjuvant radiotherapy, he was started on maintenance therapy with everolimus per recommendations from our multi-institutional brain tumour precision medicine tumour board. He has achieved a complete remission with resolution of visual symptoms and remains on everolimus therapy with concurrent electromagnetic field therapy, now 33 months from diagnosis. Our data highlight the benefit of precision medicine in children with GBM and offer insight into a targetable pathway that may be involved in similar cases.
一名患有家族性李-弗劳梅尼综合征的14岁男孩出现复视。脑部磁共振成像（MRI）显示右侧颞顶叶有边缘强化肿块。手术切除并诊断为巨细胞型多形性胶质母细胞瘤（GBM）后，鉴于继发恶性肿瘤的风险增加，其家人希望避免细胞毒性化疗。因此，我们进行了全外显子组和转录组测序，结果显示存在胚系和体细胞突变。辅助放疗完成后，根据我们多机构脑肿瘤精准医学肿瘤委员会的建议，他开始接受依维莫司维持治疗。他已实现完全缓解，视觉症状消失，目前仍在接受依维莫司治疗并同时进行电磁场治疗，自确诊以来已过去33个月。我们的数据突出了精准医学对GBM患儿的益处，并为可能涉及类似病例的可靶向通路提供了见解。
