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

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【中图分类号】 R739.41 【文献标志码】B 【文章编号】1672-7770(2025)03-0356-05
Abstract:ObjectiveTo explore the molecular features of glioma with NTRK fusionand the effectiveness of Stuppregimen for newlydiagnosed high-grade gliomas withNTRK fusion mutations.MethodsTheclinical dataof oneadulthigh-gradeglioma with SCAPER-NTRK2mutationadmittedto Affiliated HospitalofJining Medical Universityin March2O23wereanalyzedretrospectively.The immunohistochemistryand molecular testing were used, andthe relevantliterature were reviewed.ResultsThe cranial MRI suggesteda tumorous lesion in the left parietal temporal lobe.Surgical resection of the tumour was folowed by simultaneous Stupp regimen treatment.Genetic testing of tumour tissue IIshowed IDH1 P.R132H exon 4 missense mutation,NTRK2(SCAPER-NTRK2) fusion mutation, CDKN2A/2B copy number deletion.At 13-month follw-up,there were no signs andsymptoms of neurological deficits,and there were no signs of recurrence of the tumour on repeat cranial MRI. ConclusionsThe Stupp regimenis an efective treatment option for newlydiagnosed high-grade glioma with NTRK2 fusion mutations,and second-generation genetic testing is recommended as the preferred test for NTRK gene fusions.
Key Words:NTRK fusion;astrocytoma;Stupp regimen;CDKN2A/B;pathological diagnosis
星形细胞瘤是中枢神经系统最常见的原发性恶性肿瘤之一。(剩余8489字)