Myeloproliferative neoplasms and myelodysplastic syndromes: Molecular diagnostics

Abstract

Since the discovery of the Philadelphia chromosome in chronic myelogenous leukemia, numerous molecular genetic events in chronic myeloid neoplasms have been described. The myeloproliferative neoplasms, myelodysplastic syndromes, and mixed myelodysplastic/myeloproliferative neoplasms are now defined by more than just clinical parameters and require recognition of a combination of clinical, morphologic, and genetic features that define specific disease entities. Genetic testing, including karyotype and mutation analysis, is now essential for the proper diagnosis and classification of these disorders. This chapter summarizes the currently recognized recurring molecular genetic alterations in these various proliferations, including required testing for the proper diagnosis and classification of these neoplasms.