根据2021年世界卫生组织分类，在现实生活中实施诊断胶质瘤的分子标准：意大利神经肿瘤协会和神经外科学会的一项全国调查。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Journal of neurosurgical sciences Pub Date : 2025-06-23 DOI:10.23736/S0390-5616.25.06457-4

Alessia Pellerino, Teresa Somma, Francesco Bruno, Quintino G D'Alessandris, Valeria Internò, Valentina Polo, Denis Aiudi, Giannantonio Spena, Tamara Ius, Vincenzo Esposito, Antonio Silvani, Roberta Rudà

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引用次数: 0

摘要

背景：意大利神经肿瘤协会（AINO）和意大利神经外科学会（SINch）推动了一项全国性调查，以探索如何将2021年世卫组织胶质瘤分子诊断标准实施到临床实践中。方法：在2022年1月至2022年3月期间，向美国国家教育学会和中国教育学会的成员发送了一份包含38项选择题的调查问卷。结果：共收集问卷152份。来自非学术医院和学术医院的参与者分别为78（51.3%）和74（48.7%）。分别有140例（92.1%）和88例（57.9%）应答者报告了IDH突变和1p/19q密码缺失的评估。在诊断或第二次手术时，分别有110例（72.4%）和82例（53.9%）应答者报告了MGMTp甲基化。研究了53例（34.9%）应答者在idh突变星形细胞瘤中CDKN2A/B纯合缺失。在idh野生型星形细胞瘤中，分别有76人（50.0%）、43人（28.3%）和16人（10.5%）报告了EGFR扩增或pTERT突变或+7-10染色体改变。学术医院与非学术医院分子标记物的可用性更高，包括CDKN2A/B缺失（34/70,48.6%比19/82,23.2%，P=0.001），第二次手术时MGMTp(48/69, 69.6%比34/72,47.2%，P=0.008), EGFR/pTERT/+7-10(46/70, 65.7%比32/77,41.6%，P=0.003)， BRAF突变（14/70,20.0%比4/82,4.9%，P=0.002）， NTRK融合(14/70,20.0%比2/ 81,2.5%，结论：胶质瘤分子标记物的可用性在意大利中心普遍存在。根据WHO 2021分类，在胶质瘤中实施用于诊断和预后的分子标准需要改进。此外，未来的一个关键问题将是寻找罕见的可操作突变，鉴于靶向治疗的使用，这种突变正在不断发展。

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Real-life implementation of molecular criteria for diagnosing gliomas according to 2021 WHO Classification: a national survey from the Italian Association of Neuro-Oncology and Society of Neurosurgery.

Background: The Italian Association of Neuro-Oncology (AINO) and the Italian Society of Neurosurgery (SINch) promoted a national survey to explore how the 2021 WHO molecular diagnostic criteria for gliomas have been implemented into clinical practice.

Methods: A survey containing 38-item multiple-choice questions was sent to members of the AINO and SINch from January 2022 to March 2022.

Results: We collected 152 answers. Participants from non-academic vs academic hospitals were 78 (51.3%) and 74 (48.7%). Assessment of IDH mutations and 1p/19q codeletion was reported by 140 (92.1%) and 88 (57.9%) responders, respectively. MGMTp methylation, either at diagnosis or at second surgery, was reported by 110 (72.4%) and 82 (53.9%) responders, respectively. CDKN2A/B homozygous deletion in IDH-mutant astrocytomas was investigated according to 53 (34.9%) responders. Assessment of either EGFR amplification or pTERT mutation or +7-10 chromosome changes in IDH-wild type astrocytomas was reported by 76 (50.0%), 43 (28.3%), and 16 (10.5%) responders, respectively. Academic vs non-academic hospitals had a higher availability of molecular markers, including CDKN2A/B deletion (34/70, 48.6% vs 19/82, 23.2%, P=0.001), MGMTp at second surgery (48/69, 69.6% vs 34/72, 47.2%, P=0.008), EGFR/pTERT/+7-10 (46/70, 65.7% vs 32/77, 41.6%, P=0.003), BRAF mutation (14/70, 20.0% vs 4/82, 4.9%, P=0.002), NTRK fusion (14/70, 20.0% vs 2/81, 2.5%, P<0.001).

Conclusions: The availability of molecular markers for gliomas is widespread among Italian centers. The implementation of the molecular criteria for diagnostic and prognostic purposes in gliomas according to WHO 2021 Classification needs to be improved. Moreover, a critical issue for the future will be the search for rare actionable mutations, which is continuously evolving, in light of the use of targeted therapy.

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来源期刊

Journal of neurosurgical sciences CLINICAL NEUROLOGY-SURGERY

CiteScore

3.00

自引率

5.30%

发文量

202

审稿时长

>12 weeks

期刊介绍： The Journal of Neurosurgical Sciences publishes scientific papers on neurosurgery and related subjects (electroencephalography, neurophysiology, neurochemistry, neuropathology, stereotaxy, neuroanatomy, neuroradiology, etc.). Manuscripts may be submitted in the form of ditorials, original articles, review articles, special articles, letters to the Editor and guidelines. The journal aims to provide its readers with papers of the highest quality and impact through a process of careful peer review and editorial work.