Primary myelofibrosis with extramedullary hematopoiesis – A case report with a review of literature

Primary myelofibrosis (PMF) is the least common of all myeloproliferative neoplasms (MPNs), characterized by a neoplastic transformation of early hematopoietic stem cells, predominantly megakaryocytes and granulocytes. The disease shows gradual evolution from an initial prefibrotic stage to an overt fibrotic stage. Janus kinase (JAK) 2, CALR, and MPL mutations are most common in nonchronic myeloid leukemia MPNs but are not always present. Ineffective marrow hematopoiesis leads to extramedullary hematopoiesis and associated symptoms such as splenomegaly, hepatomegaly, anemia, and pro-inflammatory cytokines-induced constitutional symptoms. The WHO criteria, 2016, consider the combination of clinical, morphological, and molecular genetics features for the diagnosis of the condition. Currently, Dynamic International Prognostic Scoring System is most widely used to predict the prognosis. Here, we report the case of a 63-year-old male diagnosed with the rare disease PMF with extramedullary hematopoiesis and bleeding gastric varices. PMF was diagnosed by bone marrow biopsy showing diffuse fibrosis, positive JAK2-V617F mutation in genetic analysis, negative Philadelphia chromosome, pancytopenia, splenomegaly, and raised leukocyte dehydrogenase.