Myelodysplastic/myeloproliferative neoplasms - recent advances and diagnostic issues

Abstract

Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are rare clonal myeloid neoplasms characterized by the simultaneous presence of both myelodysplatic and myeloproliferative features. Most MDS/MPN cases are clinically and histopathologically more closely related to the classical myeloproliferative diseases, they are therefore called “myeloproliferative diseases with dysplastic features”. This group includes three main entities: chronic myelomonocytic leukemia, atypical chronic myeloid leukemia and juvenile myelomonocytic leukemia. It also includes several less defined entities determined as unclassifiable myelodysplastic/myeloproliferative neoplasms, the most well known of which is refractory anemia with ring sideroblasts and thrombocytosis. Despite considerable progress in molecular and genetic understanding of myeloid neoplasm pathogenesis, correct MDS/MPN diagnosis still requires accurate and multidirectional clinical, morphological and immunophenotypical peripheral blood and bone marrow studies as well as genetic testing.
Hematologia 2010; 1, 3: 185-194