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SCAPER-NTRK2融合突變成人高級別星形細胞瘤1例報告 并文獻復(fù)習

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【中圖分類號】 R739.41 【文獻標志碼】B 【文章編號】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

星形細胞瘤是中樞神經(jīng)系統(tǒng)最常見的原發(fā)性惡性腫瘤之一。(剩余8489字)

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