FLT3-ITD and NPM1 Double Mutation Acute Myeloid Leukemia Case Presenting with Diffuse Skin Granulocytic Sarcoma

Abstract

Objective: Acute myeloid leukemia (AML) is characterized by leukemic blasts that are not limited to the bone marrow or peripheral blood, may be presented with granulocytic sarcoma, and leukemic cells outside of the blood or bone marrow are called extramedullary involvement (EMI). Skin, bone, and lymph nodes are the most prevalent locations of extramedullary illness. Granulocytic sarcoma (GS) should be considered in the differential diagnosis of nodules, pustules, or plaque-like lesions, especially in patients with suspected hematological disease. No EMI-specific treatment regimens have been established; patients who are suitable for intensive therapy are typically treated with anthracycline and cytarabine-containing regimens. The most common genetic aberration in adult AML is somatic mutations in exon 12 of the NPM gene (NPM1), which affect up to 60% of individuals with normal karyotype AML and around 35% of all cases. Patients with NPM1 mutations are twice as likely to also have a FMS-like tyrosine kinase internal transmembrane duplications (FLT3-ITD) mutation as patients without NPM1 mutations. AML frequently harbors FLT3 mutations that result in (FLT3-ITD) or alterations to the kinase domain's activating loop (FLT3-TKD). Short remissions and unfavorable outcomes are linked to leukemia cells that have a high mutation proportion of FLT3-ITD molecules on their surface.  Case: Here in this study, we report a patient diagnosed with FLT3-ITD and NPM1 double mutation AML (FAB classification M0, M1), admitted with diffuse granulocytic sarcoma.