Molecular Diagnostics of Myeloid Neoplasms

  • Xiaohui Zhang
  • Ling ZhangEmail author
Part of the Cancer Growth and Progression book series (CAGP, volume 16)


According to 2008 World Health Organization (WHO) Classification of Tumors of Hematopoietic and Lymphoid Tissue, myeloid neoplasms include (1) myeloproliferative neoplasms (MPN), (2) myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PFGFRB, or FGFR1, (3) myelodysplastic/myeloproliferative neoplasms (MDS/MPN), (4) myelodysplastic syndromes (MDS), and (5) acute myeloid leukemia (AML) and related precursor neoplasms. The diagnosis and subclassification of myeloid neoplasms is critical and approaches are multifaceted. In an era of advanced molecular biology, the diagnosis of myeloid neoplasms requires an integration of morphology, clinical presentation, laboratory results and immunophenotying with cytogenetics and molecular studies. Emerging novel molecular genetic technologies e.g. DNA microarray, single nucleotide polymorphism (SNP) array, whole genomic sequencing will aid further subclassification and characterization of disease entities of myeloid neoplasm. The common or fundamental molecular markers and associated cytogenetic aberrations, together with the diagnostic approaches are emphasized and reviewed in this chapter.


Myeloid neoplasm Myeloproliferative neoplasm Myelodysplastic syndrome Acute myeloid leukemia Molecular diagnosis 



Atypical chronic myeloid leukemia


Acute lymphoblastic leukemia


Acute myeloid leukemia


Acute promyelocytic leukemia


B lymphoblastic leukemia


Commonly affected regions


Core binding factor translocations


Core-binding factor


Common deletion region


Chronic eosinophilic leukemia


Chronic myelogenous leukemia


Chronic myelomonocytic leukemia


Cytogenetic response


Disseminated intravascular coagulation


Extramedullary hematopoiesis


Essential thrombocythemia




Febroblast growth factor receptor 1


Fluorescence in-situ hybridization


Gene expression profiling


Gastrointestinal stromal tumors


Hematological response


Juvenile myelomonocytic leukemia


Myelodysplastic syndromes


Myeloproliferative neoplasms


Molecular response


Myeloproliferative neoplasms, unclassifiable


Molecular response




Not otherwise specified


Platelet derived growth factor receptor


Primary myelofibrosis


Promyelocytic leukemia


Polycythemia vera


Refractory anemia with excess blasts


Retinoic acid receptor gene, alpha


Refractory anemia with ring sideroblasts


Refractory cytopenia with multilineage dysplasia


Refractory cytopenia with unilineage dysplasia


Restricted fragment length polymorphism


Systemic mastocytosis with associated clonal hematopoetic non-mast cell lineage disease


Spen paralog and ortholog C-terminal


T-lymphoblastic leukemia


World Health Organization


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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  1. 1.Department of Hematopathology and Laboratory MedicineH. Lee Moffitt Cancer Center & Research InstituteTampaUSA
  2. 2.Department of Pathology and Cell Biology, College of MedicineUniversity of South FloridaTampaUSA

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