Impact of 10q loss, CDKN2A deletions, EGFR amplification, and trisomy of chromosome 7 in the overall survival of IDH-mutant astrocytoma.

IF 0.8 4区医学 Q4 CLINICAL NEUROLOGY

Clinical Neuropathology Pub Date : 2025-05-21 DOI:10.5414/NP301667

Mónica B Mezmezian, Naomi Arakaki, Blanca Diez, Horacio Martinetto, Gustavo Sevlever

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引用次数: 0

Abstract

Introduction: Since progression from grade 2 to grade 4 occurs in the evolution of IDH-mutant astrocytoma (A, IDH-mut), it is crucial to identify the key factors that define the different grades.

Aims: To evaluate the impact on overall survival (OS) of molecular alterations traditionally associated with high-grade gliomas within the grading scheme.

Materials and methods: We retrospectively analyzed the role of 10q loss, CDKN2A deletions, EGFR amplification (Amp), and trisomy of chromosome 7 (trisomy 7) in 189 A, IDH-mut, reclassified according to the WHO 2021 criteria (grade 2, n = 133; grade 3, n = 18; grade 4, n = 38).

Results: Among the 189 cases, 29 presented with CDKN2A hemizygous deletion (hemidel), 17 with CDKN2A homozygous deletion, 18 showed trisomy 7, and 2 showed EGFR Amp. A multivariate test revealed that WHO grade 4 and trisomy 7 significantly impacted OS. CDKN2A hemidel and 10q loss did not influence OS in our cohort. Given that 11 out of 18 cases with trisomy 7 were IDH-mutant grade 2 (G2), we compared G2 cases with and without trisomy 7 and found worse OS in cases with trisomy (p = 0.0034), similar to WHO grade 4.

Conclusion: Our results suggest that trisomy 7 plays a significant role in the OS of A, IDH-mut. Further research is needed to determine whether trisomy 7 is an independent marker or if it is associated with other molecular alterations that affect OS.

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10q缺失、CDKN2A缺失、EGFR扩增和7号染色体三体对idh突变型星形细胞瘤总生存期的影响

导读：由于idh突变型星形细胞瘤（A, IDH-mut）在进化过程中会发生从2级到4级的进展，因此确定定义不同级别的关键因素至关重要。目的：评估分级方案中传统上与高级别胶质瘤相关的分子改变对总生存期（OS）的影响。材料和方法：我们回顾性分析了10q缺失、CDKN2A缺失、EGFR扩增（Amp）和7号染色体三体在189a （IDH-mut）中的作用，根据WHO 2021标准重新分类(2级，n = 133；3年级，n = 18；4级，n = 38)。结果：189例患者中，CDKN2A半合子缺失（hemidel） 29例，CDKN2A纯合子缺失17例，7三体缺失18例，EGFR Amp 2例。多因素检验显示WHO 4级和7三体显著影响OS。CDKN2A hemidel和10q缺失对我们队列中的OS没有影响。考虑到18例7号三体患者中有11例为idh突变2级（G2），我们比较了有和没有7号三体的G2病例，发现三体患者的OS更差（p = 0.0034），与WHO 4级相似。结论：我们的研究结果表明，7三体在a， IDH-mut的OS中起重要作用。需要进一步的研究来确定7号三体是否是一个独立的标记，或者是否与影响OS的其他分子改变有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Neuropathology 医学-病理学

CiteScore

1.60

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Clinical Neuropathology appears bi-monthly and publishes reviews and editorials, original papers, short communications and reports on recent advances in the entire field of clinical neuropathology. Papers on experimental neuropathologic subjects are accepted if they bear a close relationship to human diseases. Correspondence (letters to the editors) and current information including book announcements will also be published.