Diagnostic Approach to Myeloproliferative Neoplasms and Myelodysplastic/Myeloproliferative Neoplasms

Abstract

The International Consensus Classification (ICC) updated in 2022 the World Health Organization (WHO) classification of hematopoietic tumors (2016 revision of the 4th edition WHO classification). Although the major categories of myeloid neoplasms remained unchanged from the prior WHO classification, many disease entities including those in the myeloproliferative neoplasm (MPN) and myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) categories underwent updates. For all these disease subtypes, a careful integration of clinicopathologic findings and molecular data led to improved diagnostic definitions. Although the classification of MPNs received only minor changes, these included a simpler definition of accelerated phase of chronic myeloid leukemia. For the MDS/MPN group, in addition to the presence of one or more increased peripheral blood cell counts as evidence of myeloproliferative features, concomitant cytopenia as evidence of ineffective hematopoiesis is now an explicit diagnostic requirement for all the entities included in this category. The presence of specific mutations in the appropriate clinicopathologic context is now included in the diagnostic criteria for some of the MPN and MDS/MPN entities. This review aims to briefly discuss the diagnostic approach to MPNs and MDS/MPNs according to the ICC.

Keywords: atypical chronic myeloid leukemia; chronic myelomonocytic leukemia; chronic neutrophilic leukemia; essential thrombocythemia; myelodysplastic/myeloproliferative neoplasm with isolated i(17q); myelodysplastic/myeloproliferative neoplasms; myeloproliferative neoplasms; polycythemia vera; primary myelofibrosis.