Primary myelofibrosis: 2017 update on diagnosis, risk ‐stratification, and management

Disease overview: Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell‐derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR or MPL mutation, abnormal cytokine expression, bone marrow fibrosis, anemia, splenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression and shortened survival. Diagnosis: Diagnosis is based on bone marrow morphology. The presence of JAK2, CALR or MPL mutation is supportive but not essential for diagnosis; approximately 90% of patients carry one of these mutations and 10% are “triple‐negative.” None of these mutations are specific to PMF and are also seen in essential thrombocythemia (ET). According to the revised 2016 World Health Organization (WHO) classification and diagnostic criteria, “prefibrotic” PMF (pre‐PMF) is distinguished from “overtly fibrotic” PMF; the former might mimic ET in its presentation and it is prognostically relevant to distinguish the two. Risk stratification: The Dynamic International Prognostic Scoring System‐plus (DIPSS‐plus) uses eight predictors of inferior survival: age >65 years, hemoglobin <10 g/dL, leukocytes >25 × 109/L, circulating blasts ≥1%, constitutional symptoms, red cell transfusion dependency, platelet count <100 × 109/L and unfavorable karyotype (i.e., complex karyotype or sole or two abnormalities that include +8, −7/7q‐, i(17q), inv(3), 5/5q‐, 1...
Source: American Journal of Hematology - Category: Hematology Authors: Tags: CME Information: Primary myelofibrosis: 2017 update on diagnosis, risk ‐stratification and management Source Type: research