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.
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References
Advani AS, Pendergast AM. Bcr-Abl variants: biological and clinical aspects. Leuk Res. 2002;26(8):713–20.
Pui CH, Relling MV, Downing JR. Acute lymphoblastic leukemia. N Engl J Med. 2004;350(15):1535–48.
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.
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.
Treon SP, et al. MYD88 L265P somatic mutation in Waldenstrom’s macroglobulinemia. N Engl J Med. 2012;367(9):826–33.
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.
Old J, Thalassaemia International Federation. Prevention of thalassaemias and other haemoglobin disorders. Volume 1, principles. Nicosia: Thalassaemia International Federation; 2013. p. 1. Online resource.
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.
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.
Vogelstein B, Kinzler KW. Digital PCR. Proc Natl Acad Sci. 1999;96(16):9236–41.
Marum JE, Branford S. Current developments in molecular monitoring in chronic myeloid leukemia. Ther Adv Hematol. 2016;7(5):237–51.
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.
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.
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.
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.
Weinhold N, et al. Clinical value of molecular subtyping multiple myeloma using gene expression profiling. Leukemia. 2016;30(2):423–30.
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.
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.
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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
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DOI: https://doi.org/10.1007/978-3-319-97873-4_24
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