A panel of experts led by Dr. John O. Mascarenhas from the Icahn School of Medicine discussed the symptoms, diagnosis, and treatment of myelofibrosis, a rare bone marrow disorder. The panel presented an overview of how myelofibrosis presents in patients, with symptoms ranging from general constitutional symptoms such as fevers and fatigue to abnormal lab counts. Studies have shown that thrombocytopenia, or low platelet count, is associated with a worse symptom burden and survival rates in myelofibrosis patients. The panelists also discussed the role of genetic testing in diagnosing and risk stratifying patients with myelofibrosis. They emphasized the importance of conducting driver mutation testing using polymerase chain reaction (PCR) tests and next-generation sequencing (NGS) at the time of diagnosis to determine prognostic factors and guide therapeutic decisions. Additionally, the panel discussed how mutational profiling could have a direct impact on therapeutic decisions and how driver mutations do not influence the decision to initiate JAK inhibitor treatment but may influence the need for a bone marrow transplant in certain patients.
