通过先进医疗系统平台 Senshin-Iryo 对更新世界卫生组织修订分类的弥漫性胶质瘤进行内部分子诊断。

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Neuropathology Pub Date : 2024-10-01 Epub Date: 2024-03-13 DOI:10.1111/neup.12970
Nobuhiro Hata, Yutaka Fujioka, Ryosuke Otsuji, Daisuke Kuga, Ryusuke Hatae, Yuhei Sangatsuda, Takeo Amemiya, Naoki Noguchi, Aki Sako, Minoru Fujiki, Masahiro Mizoguchi, Koji Yoshimoto
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引用次数: 0

摘要

自世界卫生组织(WHO)2016 年修订以来,弥漫性胶质瘤所需的分子标记物数量有所增加,给临床实践带来了负担。我们利用日本独特的医疗系统特点--千心-伊吕建立了内部分子诊断平台,并根据世界卫生组织 2021 年修订版对分析方法进行了部分修改。在此,我们回顾了使用该平台 5 年来所取得的成就。对IDH、BRAF和H3点突变、1p/19q和10、17号染色体上的杂合性缺失(LOH)以及MGMT甲基化的分析合并成一套,作为 "抗癌化疗耐药基因检测 "提交给了千心-二老,并于2018年8月获得批准。随后,在2021年10月,该集又增加了TERT启动子突变的Sanger测序,并用多重连接依赖性探针扩增(MLPA)取代LOH分析,以分析1p/19q编码缺失和2021年WHO新要求的遗传标记,如EGFR、PTEN和CDKN2A。在纳入的 200 多例病例中,有 54 例是在 WHO 2021 修订版发布后进行分析的。实验室一直保持着一个诊断平台,分子诊断可在 2 周内得到确认。最初的支出超过了来自患者共付额的收入,但现在已逐渐降至仅剩运行成本,并接近盈利。世卫组织 2021 年修订版发布后,54 例病例中有 38 例(70.1%)通过使用从千心-伊吕奥获得的分子标记物得到确诊。在剩余的 16 例患者中,只有 4 例(7.4%)被诊断为未在别处分类的弥漫性胶质瘤,12 例经组织病理诊断证实为胶质母细胞瘤的患者被排除在外。我们的 "千心-伊吕奥试验 "是一个挽救系统,它克服了世卫组织分类法持续修订之间的过渡期,这在日本医疗系统中造成了临床困境。
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In-house molecular diagnosis of diffuse glioma updating the revised WHO classification by a platform of the advanced medical care system, Senshin-Iryo.

Since the World Health Organization (WHO) 2016 revision, the number of molecular markers required for diffuse gliomas has increased, placing a burden on clinical practice. We have established an in-house, molecular diagnostic platform using Senshin-Iryo, a feature of Japan's unique healthcare system, and partially modified the analysis method in accordance with the WHO 2021 revision. Herein, we review over a total 5 years of achievements using this platform. Analyses of IDH, BRAF, and H3 point mutations, loss of heterozygosity (LOH) on 1p/19q and chromosomes 10 and 17, and MGMT methylation were combined into a set that was submitted to Senshin-Iryo as "Drug resistance gene testing for anticancer chemotherapy" and was approved in August 2018. Subsequently, in October 2021, Sanger sequencing for the TERT promoter mutation was added to the set, and LOH analysis was replaced with multiplex ligation-dependent probe amplification (MLPA) to analyze 1p/19q codeletion and newly required genetic markers, such as EGFR, PTEN, and CDKN2A from WHO 2021. Among the over 200 cases included, 54 were analyzed after the WHO 2021 revision. The laboratory has maintained a diagnostic platform where molecular diagnoses are confirmed within 2 weeks. Initial expenditures exceeded the income from patient copayments; however, it has gradually been reduced to running costs alone and is approaching profitability. After the WHO 2021 revision, diagnoses were confirmed using molecular markers obtained from Senshin-Iryo in 38 of 54 cases (70.1%). Among the remaining 16 patients, only four (7.4%) were diagnosed with diffuse glioma, not elsewhere classified, which was excluded in 12 cases where glioblastoma was confirmed by histopathological diagnosis. Our Senshin-Iryo trial functioned as a salvage system to overcome the transition period between continued revisions of WHO classification that has caused a clinical dilemma in the Japanese healthcare system.

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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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