Skip to main content

Understanding Molecular Testing in Patients Affected by Hematologic Disorders

  • Chapter
  • First Online:
Concise Guide to Hematology

Abstract

The rapid development of molecular testing has transformed diagnostic approaches to hematologic disorders. Morphologic examination and complete blood counts still have a fundamental role to overall indicate the nature of the hematologic disorder; however, molecular testing now serves in a pivotal role in the clinical care of patients with hematologic malignancies, hemoglobinopathies, and congenital hematological disorders for precise diagnosis. Over the last several decades, laboratory diagnostic approaches have grown to be more rapid, sensitive, and accurate to enable a quicker and more complete diagnosis. In this chapter, we review the basis of these new nucleotide-based molecular techniques and their application in hematologic disorders.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 129.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Advani AS, Pendergast AM. Bcr-Abl variants: biological and clinical aspects. Leuk Res. 2002;26(8):713–20.

    Article  CAS  Google Scholar 

  2. Pui CH, Relling MV, Downing JR. Acute lymphoblastic leukemia. N Engl J Med. 2004;350(15):1535–48.

    Article  CAS  Google Scholar 

  3. Yi-Ning Y, et al. Prognostic significance of diagnosed WT1 level in acute myeloid leukemia: a meta-analysis. Ann Hematol. 2015;94(6):929–38.

    Article  Google Scholar 

  4. Michalatos-Beloin S, et al. Molecular haplotyping of genetic markers 10 kb apart by allele-specific long-range PCR. Nucleic Acids Res. 1996;24(23):4841–3.

    Article  CAS  Google Scholar 

  5. Treon SP, et al. MYD88 L265P somatic mutation in Waldenstrom’s macroglobulinemia. N Engl J Med. 2012;367(9):826–33.

    Article  CAS  Google Scholar 

  6. Smith CC, et al. Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia. Nature. 2012;485(7397):260–3.

    Article  CAS  Google Scholar 

  7. Old J, Thalassaemia International Federation. Prevention of thalassaemias and other haemoglobin disorders. Volume 1, principles. Nicosia: Thalassaemia International Federation; 2013. p. 1. Online resource.

    Google Scholar 

  8. Pandey GS, et al. Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A. Nat Med. 2013;19(10):1318–24.

    Article  CAS  Google Scholar 

  9. Kipp BR, et al. Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human alpha-globin gene cluster. J Mol Diagn. 2011;13(5):549–57.

    Article  CAS  Google Scholar 

  10. Vogelstein B, Kinzler KW. Digital PCR. Proc Natl Acad Sci. 1999;96(16):9236–41.

    Article  CAS  Google Scholar 

  11. Marum JE, Branford S. Current developments in molecular monitoring in chronic myeloid leukemia. Ther Adv Hematol. 2016;7(5):237–51.

    Article  CAS  Google Scholar 

  12. Volkert S, et al. Array CGH identifies copy number changes in 11% of 520 MDS patients with normal karyotypes and uncovers prognostically relevant deletions. Molecular subtypes of diffuse large B-cell lymphoma arise by distinct genetic pathways. Leukemia. 2016;30(1):257–60.

    Article  CAS  Google Scholar 

  13. Ito C, et al. Hyperdiploid acute lymphoblastic leukemia with 51 to 65 chromosomes: a distinct biological entity with a marked propensity to undergo apoptosis. Blood. 1999;93(1):315–20.

    CAS  PubMed  Google Scholar 

  14. Heerema NA, et al. Hypodiploidy with less than 45 chromosomes confers adverse risk in childhood acute lymphoblastic leukemia: a report from the children's cancer group. Blood. 1999;94(12):4036–45.

    CAS  PubMed  Google Scholar 

  15. Lenz G, et al. Molecular subtypes of diffuse large B-cell lymphoma arise by distinct genetic pathways. Proc Natl Acad Sci. 2008;105(36):13520–5.

    Article  CAS  Google Scholar 

  16. Weinhold N, et al. Clinical value of molecular subtyping multiple myeloma using gene expression profiling. Leukemia. 2016;30(2):423–30.

    Article  CAS  Google Scholar 

  17. Li MM, et al. Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017;19(1):4–23.

    Article  CAS  Google Scholar 

  18. Richards S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Navid Sadri .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Ryder, C., Zhu, M., Sadri, N. (2019). Understanding Molecular Testing in Patients Affected by Hematologic Disorders. In: Lazarus, H., Schmaier, A. (eds) Concise Guide to Hematology. Springer, Cham. https://doi.org/10.1007/978-3-319-97873-4_24

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-97873-4_24

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-97872-7

  • Online ISBN: 978-3-319-97873-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics