混合表型急性白血病中的克隆VDJ重排可成功用于追踪最小残留病(MRD)。

IF 1.3 4区 医学 Q3 ANATOMY & MORPHOLOGY Applied Immunohistochemistry & Molecular Morphology Pub Date : 2024-08-01 Epub Date: 2024-05-02 DOI:10.1097/PAI.0000000000001203
Marah Hennawi, Faatima Quadeer, Nagehan Pakasticali, Sami Osman, Hammad Tashkandi, Mohammad Omar Hussaini
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引用次数: 0

摘要

简介:多重聚合酶链反应(PCR)和下一代测序(NGS)都可用于通过靶向 CDR3 和评估 IgH、IgK、IgL、TCR-β 和 TCR-gamma 基因位点的重排来确定肿瘤克隆型。克隆型序列可用于追踪最小残留病(MRD)。在混合表型急性白血病(MPAL)中通过 NGS 追踪 MRD 的能力尚不清楚,值得研究:方法:已获得机构审查委员会 (IRB) 批准。搜索莫菲特癌症中心(MCC)中央数据库,从 600,000 多个条目中找出任何 MPAL 患者。对患者病历进行人工整理,以确定那些有 clonoSEQ 数据的患者,并从电子病历 (EMR) 中获取临床数据:结果:确定了 29 名 MPAL 患者。结果:共发现 29 名 MPAL 患者,其中只有 2 名患者进行了 clonoSEQ 检测。这两名患者均表现为 B 型/髓系表型,且均为双线型。NGS(clonoSEQ)分别鉴定出 4 个显性序列(IGH)(患者 A;8/2019)和 2 个显性序列(患者 B;10/2019)。在这两名患者中,clonoSEQ 检测都成功追踪了最小残留病,并反映了临床疾病负担:本报告首次证实了基于 NGS 的 MRD 追踪在 MPAL 患者中的实用性,并显示 NGS 比 MRD 流式细胞术的灵敏度更高。
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Clonotypic VDJ Rearrangements in Mixed Phenotype Acute Leukemia can be Successfully Utilized to Track Minimal Residual Disease.

Introduction: Multiplex polymerase chain reaction (PCR) and next-generation sequencing (NGS) can both be used to identify a neoplastic clonotype by targeting CDR3 and assessing rearrangements in IgH, IgK, IgL, TCR-β, and TCR-gamma loci. The clonotypic sequence can be robustly used to track minimal residual disease (MRD). The ability to track MRD by NGS in mixed phenotype acute leukemia (MPAL) is unknown and warrants investigation.

Methods: Institutional Review Board (IRB) approval was obtained. Central Moffitt Cancer Center (MCC) database was searched to locate any patients with MPAL from over 600,000 entries. Patient charts were manually curated to identify those with clonoSEQ data, and clinical data was procured from the electronic medical record (EMR).

Results: Twenty-nine patients with MPAL were identified. Only 2 patients with clonoSEQ testing were found. Both demonstrated a B/myeloid phenotype, and both were bilineal. NGS (clonoSEQ) identified 4 dominant (IGH) (patient A; 8/2019) and 2 dominant sequences (patient B; 10/2019), respectively. In both patients, clonoSEQ testing successfully tracked minimal residual disease and mirrored clinical disease burden.

Conclusions: This report is the first to confirm the utility of NGS-based MRD tracking in patients with MPAL and shows increased sensitivity of NGS over MRD flow cytometry.

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来源期刊
Applied Immunohistochemistry & Molecular Morphology
Applied Immunohistochemistry & Molecular Morphology ANATOMY & MORPHOLOGY-MEDICAL LABORATORY TECHNOLOGY
CiteScore
3.20
自引率
0.00%
发文量
153
期刊介绍: ​Applied Immunohistochemistry & Molecular Morphology covers newly developed identification and detection technologies, and their applications in research and diagnosis for the applied immunohistochemist & molecular Morphologist. Official Journal of the International Society for Immunohistochemisty and Molecular Morphology​.
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