临床神经外科杂志2025，Vol.22Issue(3)：356-360,5.DOI:10.3969/j.issn.1672-7770.2025.03.022
SCAPER-NTRK2融合突变成人高级别星形细胞瘤1例报告并文献复习
SCAPER-NTRK2 fusion mutation in adult high-grade astrocytoma:report of 1 case and literature review
摘要
Abstract
Objective To explore the molecular features of glioma with NTRK fusion and the effectiveness of Stupp regimen for newly diagnosed high-grade gliomas with NTRK fusion mutations.Methods The clinical data of one adult high-grade glioma with SCAPER-NTRK2 mutation admitted to Affiliated Hospital of Jining Medical University in March 2023 were analyzed retrospectively.The immunohistochemistry and molecular testing were used,and the relevant literature were reviewed.Results The cranial MRI suggested a tumorous lesion in the left parietal temporal lobe.Surgical resection of the tumour was followed by simultaneous Stupp regimen treatment.Genetic testing of tumour tissue Ⅱ showed IDH1 P.R132H exon 4 missense mutation,NTRK2(SCAPER-NTRK2)fusion mutation,CDKN2A/2B copy number deletion.At 13-month follow-up,there were no signs and symptoms of neurological deficits,and there were no signs of recurrence of the tumour on repeat cranial MRI.Conclusions The Stupp regimen is an effective treatment option for newly diagnosed high-grade glioma with NTRK2 fusion mutations,and second-generation genetic testing is recommended as the preferred test for NTRK gene fusions.关键词
NTRK融合/星形细胞瘤/Stupp方案/CDKN2A/B/病理诊断Key words
NTRK fusion/astrocytoma/Stupp regimen/CDKN2A/B/pathological diagnosis分类
临床医学引用本文复制引用
孙中钱,申强,常雷,孟玮,王全义,张军臣..SCAPER-NTRK2融合突变成人高级别星形细胞瘤1例报告并文献复习[J].临床神经外科杂志,2025,22(3):356-360,5.基金项目
山东省青年自然科学基金项目(ZR2021QH337) （ZR2021QH337）
