Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.


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

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

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


  1. 1.

    van der Velden VHJ, Brüggemann M, Cazzaniga G, Scheijen B, Tops B, Trka J, et al. Potential and pitfalls of whole transcriptome-based immunogenetic marker identification in acute lymphoblastic leukemia; a EuroMRD and EuroClonality-NGS Working Group study. Leukemia. 2021;35:924–8.

  2. 2.

    Li Z, Jiang N, Lim EH, Chin WHN, Lu Y, Chiew KH, et al. Identifying IGH disease clones for MRD monitoring in childhood B-cell acute lymphoblastic leukemia using RNA-Seq. Leukemia. 2020;34:2418–29.

    Article  Google Scholar 

  3. 3.

    Bolotin DA, Poslavsky S, Mitrophanov I, Shugay M, Mamedov IZ, Putintseva EV, et al. MiXCR: software for comprehensive adaptive immunity profiling. Nat Methods. 2015;12:380–1.

    CAS  Article  Google Scholar 

  4. 4.

    Chang YF, Imam JS, Wilkinson MF. The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem. 2007;76:51–74.

    CAS  Article  Google Scholar 

  5. 5.

    Inaba H, Azzato EM, Mullighan CG. Integration of next-generation sequencing to treat acute lymphoblastic leukemia with targetable lesions: The St. Jude Children’s Research Hospital Approach. Front Pediatrics. 2017;5:258.

    Article  Google Scholar 

  6. 6.

    Tran TH, Loh ML. Ph-like acute lymphoblastic leukemia. Hematol Am Soc Hematol Educ Program. 2016;2016:561–6.

    Article  Google Scholar 

  7. 7.

    Schieck M, Lentes J, Thomay K, Hofmann W, Behrens YL, Hagedorn M, et al. Implementation of RNA sequencing and array CGH in the diagnostic workflow of the AIEOP-BFM ALL 2017 trial on acute lymphoblastic leukemia. Ann Hematol. 2020;99:809–18.

  8. 8.

    Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A, et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinforma. 2013;43:11.10.1–33.

    Article  Google Scholar 

  9. 9.

    Nicorici D, Satalan M, Edgren H, Kangaspeska S, Murumagi A, Kallioniemi O, et al. FusionCatcher—a tool for finding somatic fusion genes in paired-end RNA-sequencing data. bioRxiv. 2014.

  10. 10.

    Lee VS, Kawamoto K, Hess R, Park C, Young J, Hunter C, et al. Implementation of a value-driven outcomes program to identify high variability in clinical costs and outcomes and association with reduced cost and improved quality. JAMA. 2016;316:1061–72.

    Article  Google Scholar 

Download references


The computational work for this article was partially performed on resources of the National Supercomputing Centre, Singapore ( 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.

Author information



Corresponding author

Correspondence to Allen Eng-Juh Yeoh.

Ethics declarations

Conflict of interest

The author declares no competing interests.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Li, Z., Jiang, N., Lim, E.H. et al. Role of transcriptome sequencing in clinical diagnosis of B-cell acute lymphoblastic leukemia. Leukemia (2021).

Download citation


Quick links