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Molecular Diagnostics of Myeloid Neoplasms

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Molecular Pathology and Diagnostics of Cancer

Part of the book series: Cancer Growth and Progression ((CAGP,volume 16))

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Abstract

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.

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Abbreviations

aCML:

Atypical chronic myeloid leukemia

ALL:

Acute lymphoblastic leukemia

AML:

Acute myeloid leukemia

APL:

Acute promyelocytic leukemia

B-ALL:

B lymphoblastic leukemia

CARs:

Commonly affected regions

CBBF:

Core binding factor translocations

CBF:

Core-binding factor

CDR:

Common deletion region

CEL:

Chronic eosinophilic leukemia

CML:

Chronic myelogenous leukemia

CMML:

Chronic myelomonocytic leukemia

CyR:

Cytogenetic response

DIC:

Disseminated intravascular coagulation

EMH:

Extramedullary hematopoiesis

ET:

Essential thrombocythemia

FAB:

French-American-British

FGFR1:

Febroblast growth factor receptor 1

FISH:

Fluorescence in-situ hybridization

GEP:

Gene expression profiling

GIST:

Gastrointestinal stromal tumors

HR:

Hematological response

JMML:

Juvenile myelomonocytic leukemia

MDS:

Myelodysplastic syndromes

MPN:

Myeloproliferative neoplasms

MR:

Molecular response

MPN-U:

Myeloproliferative neoplasms, unclassifiable

MR:

Molecular response

MS:

Mastocytosis

NOS:

Not otherwise specified

PDGFR:

Platelet derived growth factor receptor

PMF:

Primary myelofibrosis

PML:

Promyelocytic leukemia

PV:

Polycythemia vera

RAEB:

Refractory anemia with excess blasts

RARA:

Retinoic acid receptor gene, alpha

RARS:

Refractory anemia with ring sideroblasts

RCMD:

Refractory cytopenia with multilineage dysplasia

RCUD:

Refractory cytopenia with unilineage dysplasia

RFLP:

Restricted fragment length polymorphism

SM-AHNMD:

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

SPOC:

Spen paralog and ortholog C-terminal

T-ALL:

T-lymphoblastic leukemia

WHO:

World Health Organization

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Authors and Affiliations

  1. Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer Center & Research Institute, 12902 Magnolia Drive, Tampa, FL, 33612, USA

    Xiaohui Zhang M.D., Ph.D. & Ling Zhang M.D.

  2. Department of Pathology and Cell Biology, College of Medicine, University of South Florida, 12902 Magnolia Drive, Tampa, FL, 33612, USA

    Ling Zhang M.D.

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  1. Anatomic Pathology, University of South Florida, Moffitt Cancer Center, Tampa, Florida, USA

    Domenico Coppola

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Zhang, X., Zhang, L. (2014). Molecular Diagnostics of Myeloid Neoplasms. In: Coppola, D. (eds) Molecular Pathology and Diagnostics of Cancer. Cancer Growth and Progression, vol 16. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-7192-5_18

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