Sandra LAZAR, Despina Calamar POPOVICI, Oana SARAU, Hortensia IONITA, Claudiu Octavian IONITA, Dacian Nicolae OROS, Ioana IONITA
Abstract
Myeloproliferative neoplasms, including essential thrombocythemia, are characterized by clonal proliferations of hematopoietic stem cells, leading to an increase in mature myeloid lineage cells. Essential thrombocythemia is a rare condition, with an incidence of 1-5 cases per 100,000 population, and it is more prevalent in females and older individuals. The JAK2 mutation was a key diagnostic factor in the 2008 World Health Organization classification for BCR-ABL negative myeloproliferative neoplasms, with the JAK2V617F mutation identified in over 50% of ET patients, while CALR, MPL, and “triple-negative” mutations are reported in 10% of ET patients. This review provides a comprehensive summary of the key factors related to the diagnosis and management of essential thrombocythemia, including considerations for specific patient populations.
Keywords: Myeloproliferative neoplasms; Essential thrombocythemia; Platelets; JAK2 mutation; CALR gene; MPL gene;
https://doi.org/10.59854/dhrrh.2024.2.3.125