[Development and performance evaluation of a comprehensive genomic profiling assay for hematological malignancies].

[Rinsho ketsueki] The Japanese journal of clinical hematology Pub Date : 2025-01-01 DOI:10.11406/rinketsu.66.693

Yasunori Kogure, Yuji Oshikawa-Kumade, Suguru Fukuhara, Kenichi Chiba, Ai Okada, Motohiro Kato, Yasuhito Nannya, Mamiko Sakata-Yanagimoto, Masaki Ri, Takahiro Maeda, Hideki Muramatsu, Takayuki Ishikawa, Masashi Sanada, Yasunori Ueda, Daisuke Ennishi, Ryo Higashiyama, Daisuke Koga, Yuichi Shiraishi, Koji Izutsu, Keisuke Kataoka

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Abstract

Evaluation of genetic alterations is important for diagnosis, treatment selection, and prognostic assessment in hematological malignancies, but no comprehensive genomic profiling (CGP) assays for hematological malignancies have been approved for manufacturing and marketing in Japan. We have developed a CGP assay for the analysis of genetic alterations (specifically, mutations, structural variations, and fusion genes) in 452 genes, along with a corresponding analysis and reporting system that runs on Amazon Web Services. This CGP assay, named HemeSight®, successfully detected genetic alterations with an allele frequency of 5-10% in limit of detection testing using non-clinical samples. In testing using human clinical samples, it showed high positive percent agreement (94.4% for mutations, 94.7% for IGH rearrangements [structural variations], and 100% for fusion genes) compared with established clinical tests.

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[血液学恶性肿瘤综合基因组分析方法的开发和性能评估]。

遗传改变的评估对于血液系统恶性肿瘤的诊断、治疗选择和预后评估非常重要，但日本尚未批准生产和销售针对血液系统恶性肿瘤的综合基因组分析（CGP）检测。我们开发了一种CGP分析方法，用于分析452个基因的遗传改变（特别是突变、结构变异和融合基因），以及在Amazon Web Services上运行的相应分析和报告系统。这种名为HemeSight®的CGP检测方法，在使用非临床样本的检测限中，成功检测到等位基因频率为5-10%的遗传改变。在使用人类临床样本的测试中，与已建立的临床测试相比，它显示出高阳性率的一致性（突变94.4%，IGH重排[结构变异]94.7%，融合基因100%）。

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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[Rinsho ketsueki] The Japanese journal of clinical hematology

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