H3F3A K27M mutations in thalamic gliomas from young adult patients

被引:146
作者
Aihara, Koki [1 ,2 ,3 ]
Mukasa, Akitake [1 ,2 ]
Gotoh, Kengo [3 ]
Saito, Kuniaki [1 ,2 ]
Nagae, Genta [3 ]
Tsuji, Shingo [3 ]
Tatsuno, Kenji [3 ]
Yamamoto, Shogo [3 ]
Takayanagi, Shunsaku [1 ,2 ]
Narita, Yoshitaka [4 ]
Shibui, Soichiro [4 ]
Aburatani, Hiroyuki [3 ]
Saito, Nobuhito [1 ,2 ]
机构
[1] Univ Tokyo, Dept Neurosurg, Grad Sch, Tokyo 113, Japan
[2] Univ Tokyo, Fac Med, Tokyo 113, Japan
[3] Univ Tokyo, Res Ctr Adv Sci & Technol, Genome Sci Div, Tokyo, Japan
[4] Natl Canc Ctr, Dept Neurosurg & Neurooncol, Tokyo, Japan
关键词
thalamic glioma; young adult; H3F3A mutation; PEDIATRIC GLIOBLASTOMA; HISTONE MODIFICATIONS; SEQUENCING DATA; TUMORS; GENES; GRADE; H3.3; ASTROCYTOMAS; SUBGROUPS; DNA;
D O I
10.1093/neuonc/not144
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Mutations in H3F3A, which encodes histone H3.3, commonly occur in pediatric glioblastoma. Additionally, H3F3A K27M substitutions occur in gliomas that arise at midline locations (eg, pons, thalamus, spine); moreover, this substitution occurs mainly in tumors in children and adolescents. Here, we sought to determine the association between H3F3A mutations and adult thalamic glioma. Genomic H3F3A was sequenced from 20 separate thalamic gliomas. Additionally, for 14 of the 20 gliomas, 639 genesuincluding cancer-related genes and chromatin-modifier genesuwere sequenced, and the Infinium HumanMethylation450K BeadChip was used to examine DNA methylation across the genome. Of the 20 tumors, 18 were high-grade thalamic gliomas, and of these 18, 11 were from patients under 50 years of age (median age, 38 y; range, 1746), and 7 were from patients over 50 years of age. The H3F3A K27M mutation was present in 10 of the 11 (91) younger patients and absent from all 7 older patients. Additionally, H3F3A K27M was not detected in the 2 diffuse astrocytomas. Further sequencing revealed recurrent mutations in TP53, ATRX, NF1, and EGFR. Gliomas with H3F3A K27M from pediatric or young adult patients had similar, characteristic DNA methylation profiles. In contrast, thalamic gliomas with wild-type H3F3A had DNA methylation profiles similar to those of hemispheric glioblastomas. We found that high-grade thalamic gliomas from young adults, like those from children and adolescents, frequently had H3F3A K27M.
引用
收藏
页码:140 / 146
页数:7
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