关西中枢神经系统肿瘤分子诊断网络（关西网络）中组蛋白 H3 K27 突变弥漫性中线胶质瘤的神经放射学、遗传和临床特征：多中心回顾性队列。
Neuroradiological, genetic and clinical characteristics of histone H3 K27-mutant diffuse midline gliomas in the Kansai Molecular Diagnosis Network for CNS Tumors (Kansai Network): multicenter retrospective cohort.
发表日期：2024 Jul 27
作者：
Nobuhide Hayashi, Junya Fukai, Hirokazu Nakatogawa, Hiroshi Kawaji, Ema Yoshioka, Yoshinori Kodama, Kosuke Nakajo, Takehiro Uda, Kentaro Naito, Noriyuki Kijima, Yoshiko Okita, Naoki Kagawa, Yoshinobu Takahashi, Naoya Hashimoto, Hideyuki Arita, Koji Takano, Daisuke Sakamoto, Tomoko Iida, Yoshiki Arakawa, Takeshi Kawauchi, Yukihiko Sonoda, Yuta Mitobe, Kenichi Ishibashi, Masahide Matsuda, Takamune Achiha, Takahiro Tomita, Masahiro Nonaka, Keijiro Hara, Noriyoshi Takebe, Takashi Tsuzuki, Yoshikazu Nakajima, Shiro Ohue, Nobuyuki Nakajima, Akira Watanabe, Akihiro Inoue, Masao Umegaki, Daisuke Kanematsu, Asako Katsuma, Miho Sumida, Tomoko Shofuda, Masayuki Mano, Manabu Kinoshita, Kanji Mori, Naoyuki Nakao, Yonehiro Kanemura
来源：
Acta Neuropathologica Communications
摘要：
本研究旨在阐明组蛋白 H3 K27 突变型弥漫性中线胶质瘤患者的临床和分子特征、治疗结果和预后因素。我们回顾性分析了关西中枢神经系统肿瘤分子诊断网络24家附属医院治疗的93例弥漫性中线胶质瘤患者（47个丘脑、24个脑干、12个脊髓和10个其他中线位置）。考虑到术语“中线”区域在之前的报告中被混淆，我们根据之前的报告和解剖发现将四个中线位置分类。研究队列的临床和分子特征包括：年龄 4-78 岁、女性 (41%)、组织学级别较低 (56%)、术前卡诺夫斯基功能状态 (KPS) 评分 ≥ 80 (49%)、切除术 (36 %)、辅助放疗加化疗 (83%)、替莫唑胺治疗 (76%)、贝伐单抗治疗 (42%)、HIST1H3B p.K27M 突变 (2%)、TERT 启动子突变 (3%)、MGMT 启动子甲基化 (9%) ）、BRAF p.V600E 突变（1%）、FGFR1 突变（14%）和 EGFR 突变（3%）。中位无进展生存时间和总生存时间分别为 9.9±±1.0 (7.9-11.9, 95% CI) 和 16.6±±1.4 (13.9-19.3, 95% CI) 个月。女性、术前 KPS 评分 ≥80、辅助放疗 替莫唑胺和放疗 ≥ 50 Gy 与良好的预后相关。女性性别和术前KPS评分 ≥ 80被确定为独立的良好预后因素。这项研究展示了弥漫性中线胶质瘤患者的临床实践现状以及现实环境中弥漫性中线胶质瘤的分子分析。对更大人群的进一步研究将有助于更好地了解弥漫性中线神经胶质瘤的病理学。© 2024。作者。
This study aims to elucidate the clinical and molecular characteristics, treatment outcomes and prognostic factors of patients with histone H3 K27-mutant diffuse midline glioma. We retrospectively analyzed 93 patients with diffuse midline glioma (47 thalamus, 24 brainstem, 12 spinal cord and 10 other midline locations) treated at 24 affiliated hospitals in the Kansai Molecular Diagnosis Network for CNS Tumors. Considering the term "midline" areas, which had been confused in previous reports, we classified four midline locations based on previous reports and anatomical findings. Clinical and molecular characteristics of the study cohort included: age 4-78 years, female sex (41%), lower-grade histology (56%), preoperative Karnofsky performance status (KPS) scores ≥ 80 (49%), resection (36%), adjuvant radiation plus chemotherapy (83%), temozolomide therapy (76%), bevacizumab therapy (42%), HIST1H3B p.K27M mutation (2%), TERT promoter mutation (3%), MGMT promoter methylation (9%), BRAF p.V600E mutation (1%), FGFR1 mutation (14%) and EGFR mutation (3%). Median progression-free and overall survival time was 9.9 ± 1.0 (7.9-11.9, 95% CI) and 16.6 ± 1.4 (13.9-19.3, 95% CI) months, respectively. Female sex, preoperative KPS score ≥ 80, adjuvant radiation + temozolomide and radiation ≥ 50 Gy were associated with favorable prognosis. Female sex and preoperative KPS score ≥ 80 were identified as independent good prognostic factors. This study demonstrated the current state of clinical practice for patients with diffuse midline glioma and molecular analyses of diffuse midline glioma in real-world settings. Further investigation in a larger population would contribute to better understanding of the pathology of diffuse midline glioma.© 2024. The Author(s).