Molecular diagnostics of myeloid neoplasms

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.