伴有和不伴有1型神经纤维瘤病的小儿胶质肉瘤：2例患者的全外显子组比较
Pediatric Gliosarcoma With and Without Neurofibromatosis Type 1: A Whole-exome Comparison of 2 Patients.
作者信息
Graham Richard T, Bell Erica H, Webb Amy, Zhao Yue, Timmers Cynthia, Fleming Jessica L, Sells Blake E, Robison Nathan J, Palmer Joshua D, Finlay Jonathan L, Chakravarti Arnab
机构信息
Division of Neuro-Oncology, St. Jude Children's Research Hospital, Memphis, TN.
Department of Radiation Oncology, The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute.
出版信息
J Pediatr Hematol Oncol. 2021 Nov 1;43(8):e1201-e1204. doi: 10.1097/MPH.0000000000002020.
Gliosarcoma is rare among pediatric patients and among individuals with Neurofibromatosis Type 1 (NF1). Here we compare 2 pediatric gliosarcoma patients, one of whom has NF1. We performed whole-exome sequencing, methylation, and copy number analysis on tumor and blood for both patients. Whole-exome sequencing showed higher mutational burden in the tumor of the patient without NF1. Copy number analysis showed differences in chromosomal losses/gains between the tumors. Neither tumor showed O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation. The NF1 patient survived without progression while the other expired. This is the first reported case of gliosarcoma in a child with NF1.
胶质肉瘤在儿科患者和1型神经纤维瘤病（NF1）患者中较为罕见。在此，我们比较了2例儿科胶质肉瘤患者，其中1例患有NF1。我们对两名患者的肿瘤和血液进行了全外显子测序、甲基化和拷贝数分析。全外显子测序显示，没有NF1的患者肿瘤中的突变负担更高。拷贝数分析显示，两个肿瘤之间在染色体缺失/增加方面存在差异。两个肿瘤均未显示O6-甲基鸟嘌呤-DNA甲基转移酶（MGMT）启动子甲基化。患有NF1的患者存活且无病情进展，而另一名患者死亡。这是首例报道的患有NF1的儿童胶质肉瘤病例。
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