title: Acute multilineage (B/myeloid) leukemia with RUNX1 duplication/amplification and hypereosinophilia.
abstract: A 14-year-old girl presented with myalgias and decreased energy and was found to have a white count of 73,000 with 75% eosinophils. Flow cytometry and immunostains showed the blasts in the bone marrow expressed both myeloid and lymphoid markers. Patient was diagnosed with acute multilineage (B/Myeloid) leukemia. Genetic testing revealed four copies of the RUNX1 gene region in 25.5%, with a normal karyotype and no evidence of t(8;21) or t(12;21) by fluorescence in situ hybridization. RUNX1 translocations and amplifications have been implicated in acute myeloblastic leukemia, acute lymphoblastic leukemia, and MDS, but have not yet been seen with acute multilineage leukemia. Additionally, it is unclear what the risk stratification of this unique presentation will turn out to be.
authors.affiliation: San Antonio Military Medical Center, USAF, Fort Sam Houston, TX, USA.
authors.forename: Allen
authors.initials: A
authors.lastname: Holmes
authors.forename: Jean
authors.initials: J
authors.lastname: Coviello
authors.forename: Gopalrao
authors.initials: G
authors.lastname: Velagaleti
mesh_terms: D000293:Adolescent; D001402:B-Lymphocytes / Q000378:metabolism / Q000473:pathology; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D004802:Eosinophilia / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D020440:Gene Duplication; D015870:Gene Expression; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human
keywords: AML; RUNX1; cytogenetics; hematopathology; leukemia