ABSTRACT
Deficiency of adenosine deaminase 2 (DADA2), caused by recessive mutations in the adenosine deaminase 2 (ADA2) gene, results in cutaneous or systemic vasculitis with variable clinical manifestations. There is only one other case in literature carrying both ADA2 and MEFV gene pathogenic variants. Here we report the second case that carries both ADA2 and MEFV pathogenic variants, presenting with characteristic phenotypes of both familial Mediterranean fever (FMF) and DADA2. A male patient, currently 29 years old, was initially diagnosed with FMF and developed livedo reticularis and nodular dermal lesions compatible with cutaneous polyarteritis nodosa (PAN) a year after diagnosis. His family history revealed a brother 2 years older than himself who was diagnosed with PAN and died at age 22 because of gut perforation secondary to acute mesenteric ischaemia. ADA2 gene mutation analysis on chromosome 22q11.1 was positive, and the patient responded to colchicine and infliximab.
Subject(s)
Adenosine Deaminase , Polyarteritis Nodosa , Humans , Male , Young Adult , Adult , Adenosine Deaminase/genetics , Intercellular Signaling Peptides and Proteins/genetics , Polyarteritis Nodosa/complications , Polyarteritis Nodosa/diagnosis , Polyarteritis Nodosa/genetics , Mutation , Phenotype , Fever , Pyrin/geneticsABSTRACT
Acute myeloid leukemia (AML) is defined as a highly progressive heterogeneous hematologic malignancy characterized by loss of differentiation with uncontrolled proliferation of progenitor cells. 5-year overall survival rates are as low as 5-10% in adults above 60 years. Until recently, available treatment options for AML had remained mainly unchanged. Along with the development and usage of new generation drugs, novel therapeutic options in various settings began to alter the prognosis of the disease. FMS-like tyrosine kinase 3 (FLT3), a receptor largely expressed in myeloid progenitors, is thought to have a major role in the differentiation and maturation of hematopoietic precursors. Thus, aiming the inhibition of this pathway is gaining profound importance day by day. This review mainly focuses on the FLT3 inhibitor gilteritinib and its utilization in patients with AML. Current data from the most recent trials concerning gilteritinib and new advances are also discussed here.
