Extramedullary Myeloid Leukemia in the Setting of a Myeloproliferative Neoplasm

Abstract

Extramedullary acute myeloid leukemia (EML), also known as myeloid sarcoma (MS), is an extramedullary solid mass derived from the proliferation of myeloblasts outside of the bone marrow. EML can present independently or concurrently with intramedullary acute myeloid leukemia (iAML). It can happen de novo or secondary to iAML, myeloproliferative neoplasm (MPN), chronic myelomonocytic leukemia (CMML), or myelodysplastic syndrome (MDS). We present a 57-year-old female with a history of Janus kinase 2 (JAK-2)-positive essential thrombocythemia (ET) evolving into EML in the setting of a persistent TP53 mutation. We discuss the essential diagnostic studies including tissue biopsy and fluorodeoxyglucose positron emission tomography/computed tomography (F-FDG PET/CT) imaging. We also investigate the significance of cytogenetics and next-generation sequencing (NGS) along with the unique pathogenesis, treatment and prognostic implications.