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ACUTE LYMPHOBLASTIC LEUKEMIA

Role of transcriptome sequencing in clinical diagnosis of B-cell acute lymphoblastic leukemia

Leukemia volume 35, pages 2135–2137 (2021)Cite this article

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We read with great interest the letter [1] by EuroClonality-NGS working group, where they reported, in acute lymphoblastic leukemia (ALL), the comparison of RNA-Seq and targeted DNA amplicon (DNAamp) sequencing for the identification of IG/TCR rearrangement. In this task, their results suggested that DNAamp is superior to RNA-Seq.

We concur with our European colleagues that a targeted sequencing panel can provide more comprehensive profile of the IG/TCR disease clones [2]. Our aim was not to replace DNAamp for NGS-based MRD assessment. Instead, in most B-ALL patients, we found that the high expression of IGH rearrangements enabled identification of IGH disease clones. These disease clonal rearrangements can be used for current single target RQ-PCR and digital droplet PCR (ddPCR)-based MRD quantitation. This replaces the need for laborious Sanger sequencing of excised heteroduplex bands on PAGE gel [2].

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Fig. 1: Summary of the results of the first 21 patients enrolled in the Ma-Spore ALL 2020 study by RNA-Seq diagnostic workflow.

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Acknowledgements

The computational work for this article was partially performed on resources of the National Supercomputing Centre, Singapore (https://www.nscc.sg). This study is supported by the Singapore National Medical Research Council Clinician Scientist Awards (NMRC/CSA/0053/2013 and MOH-000277), Children’s Cancer Foundation (Singapore), Singapore Tote Board, Goh Foundation (Singapore) and Viva Foundation for Children with Cancer.

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Authors and Affiliations

  1. VIVA-NUS Centre for Translational Research in Acute Leukaemia, Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

    Zhenhua Li, Nan Jiang, Evelyn Huizi Lim, Winnie Hui Ni Chin & Allen Eng-Juh Yeoh

  2. Viva-University Children’s Cancer Centre, Khoo Teck Puat-National University Children’s Medical Institute, National University Hospital, National University Health System, Singapore, Singapore

    Allen Eng-Juh Yeoh

  3. Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore

    Allen Eng-Juh Yeoh

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  1. Zhenhua Li
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Correspondence to Allen Eng-Juh Yeoh.

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Li, Z., Jiang, N., Lim, E.H. et al. Role of transcriptome sequencing in clinical diagnosis of B-cell acute lymphoblastic leukemia. Leukemia 35, 2135–2137 (2021). https://doi.org/10.1038/s41375-021-01185-6

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