Primary myelofibrosis: 2014 update on diagnosis, risk‐stratification, and management

• Published in: American journal of hematology 2014-09, Vol.89 (9), p.915-925
• Main Author: Tefferi, Ayalew
• Format: Article
• Language: English
• Subjects: Bone marrow; Bone Marrow - pathology; Decision Trees; Diagnosis, Differential; Hematology; Humans; Leukemia; Mutation; Practice Guidelines as Topic; Primary Myelofibrosis - diagnosis; Primary Myelofibrosis - genetics; Primary Myelofibrosis - mortality; Primary Myelofibrosis - therapy; Prognosis; Risk Assessment; Severity of Illness Index; Stem cells; World Health Organization
• ISSN: 0361-8609; 1096-8652
• DOI: 10.1002/ajh.23703

Disease overview: Primary myelofibrosis (PMF) is a myeloproliferative neoplasm characterized by stem cell‐derived clonal myeloproliferation, 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). Prefibrotic PMF mimics ET in its presentation and the distinction, enabled by careful bone marrow morphological examination, is prognostically relevant. Differential diagnosis also includes chronic myeloid leukemia, myelodysplastic syndromes, chronic myelomonocytic leukemia, and acute myeloid leukemia.Risk Stratification: The Dynamic International Prognostic Scoring System‐plus (DIPSS‐plus) uses eight predictors of inferior survival: age >65 years, hemoglobin 25 × 109/L, circulating blasts ≥1%, constitutional symptoms, red cell transfusion dependency, platelet count