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基于融合基因和基因组缺失的急性淋巴细胞白血病微小残留病灶（MRD）检测：迈向全面的 MRD 检测。

Minimal residual disease (MRD) detection in acute lymphoblastic leukaemia based on fusion genes and genomic deletions: towards MRD for all.

机构信息

Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.

Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.

出版信息

Br J Haematol. 2021 Sep;194(5):888-892. doi: 10.1111/bjh.17744. Epub 2021 Aug 1.

DOI:10.1111/bjh.17744
PMID:34337744
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9291030/
Abstract

Minimal residual disease (MRD) diagnostics are implemented in most clinical protocols for patients with acute lymphoblastic leukaemia (ALL) and are mostly performed using rearranged immunoglobulin (IG) and/or T-cell receptor (TR) gene rearrangements as molecular polymerase chain reaction targets. Unfortunately, in 5-10% of patients no or no sensitive IG/TR targets are available, and patients therefore cannot be stratified appropriately. In the present study, we used fusion genes and genomic deletions as alternative MRD targets in these patients, which retrospectively revealed appropriate MDR stratification in 79% of patients with no (sensitive) IG/TR target, and a different risk group stratification in more than half of the cases.

摘要

微小残留病灶 (MRD) 诊断已在大多数急性淋巴细胞白血病 (ALL) 患者的临床方案中实施，并且大多使用重排免疫球蛋白 (IG) 和/或 T 细胞受体 (TR) 基因重排作为分子聚合酶链反应的靶标。不幸的是，在 5-10%的患者中，没有或没有敏感的 IG/TR 靶标可用，因此这些患者无法进行适当的分层。在本研究中，我们在这些患者中使用融合基因和基因组缺失作为替代的 MRD 靶标，回顾性分析显示，在 79%没有 (敏感) IG/TR 靶标的患者中，MRD 分层适当，而且在一半以上的病例中，风险组分层也不同。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2118/9291030/40bfa8077a20/BJH-194-888-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2118/9291030/71d3266c6c80/BJH-194-888-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2118/9291030/40bfa8077a20/BJH-194-888-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2118/9291030/71d3266c6c80/BJH-194-888-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2118/9291030/40bfa8077a20/BJH-194-888-g001.jpg

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