AJHE2207 - CME/CMLE - How I Diagnose Primary Myelofibrosis-How I Diagnose Primary Myelofibrosis

How I Diagnose Primary Myelofibrosis

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Primary myelofibrosis (PMF) is a rare clonal myeloproliferative neoplasm characterized by abnormal cells in the bone marrow, fibrosis, and a higher risk of leukemic transformation. Diagnostic criteria for PMF include clinical, morphologic, and molecular aspects, with driver mutations often present. Clinical features may involve anemia, organ enlargement, fatigue, and weight loss. It is essential to differentiate PMF from similar conditions like myelodysplastic syndrome with fibrosis and essential thrombocythemia through various factors such as morphology and genetic mutations. Accurate diagnosis is crucial for appropriate management due to the potential for acute leukemia and impact on survival.<br /><br />The document also compares autoimmune myelofibrosis (AIMF) to PMF, highlighting distinct morphological and clinical characteristics. AIMF is associated with autoimmune disorders and diffuse bone marrow fibrosis, while PMF shows specific megakaryocyte abnormalities and spleen enlargement. Diagnostic challenges may arise in cases without typical mutations, necessitating advanced genetic testing. Case discussions underscore the importance of integrating morphological, clinical, and genetic data to confirm PMF diagnosis and guide treatment decisions effectively.

Keywords

Primary myelofibrosis

PMF

clonal myeloproliferative neoplasm

bone marrow abnormalities

leukemic transformation risk

driver mutations

anemia

organ enlargement

fatigue

autoimmune myelofibrosis