Case Report AcuteMyeloidLeukemiawithConcomitantBCR-ABLand NPM1 Mutations Benedetta Mariotti , 1 FedericoMeconi , 1 Raffaele Palmieri, 1 EleonoraDeBellis, 1 Serena Lavorgna, 1 TizianaOttone, 1 Vincenza Martini, 2 Francesco Lo-Coco, 1 andLauraCicconi 1 1 Department of Biomedicine and Prevention, University Tor Vergata, Rome, Italy 2 UOC Ematologia, Ospedale “Fabrizio Spaziani”, Frosinone, Italy Correspondence should be addressed to Benedetta Mariotti; benedetta_mariotti@hotmail.it Received 14 February 2019; Revised 26 March 2019; Accepted 31 March 2019; Published 11 April 2019 Academic Editor: Stephen Langabeer Copyright © 2019 Benedetta Mariotti et al. is is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. We present a case report of a patient with acute myeloid leukemia (AML) characterized by the simultaneous presence of nucleophosmin 1 (NPM1) mutation and the breakpoint cluster region-Abelson (BCR-ABL) fusion oncogene. Our findings emphasize the importance of routinely including BCR-ABL in the diagnostic workup of AML in order to offer to the patients the most appropriate risk category and treatment options. 1.Introduction Mutations in the NPM1 gene are the most frequent genetic abnormalities occurring in AML and are highly specific for de novo AML [1]. e BCR-ABL fusion gene is the genetic hallmark of chronic myeloid leukemia (CML) but can also be found in approximately 30% of acute lymphoblastic leu- kemia (ALL) and rarely in AML (0.3–2% of newly diagnosed cases). In the updated WHO classification published in 2016, AML with BCR-ABL has been introduced as a provisional new entity [2, 3]. In BCR-ABL-positive AML, molecular and cytogenetic profile may help to distinguish de novo AML cases from CML-blastic phase (CML-BP). To the best of our knowledge, the co-occurrence of BCR- ABL fusion gene and NPM1 mutations in de novo AML has been reported in only few cases [4]. Herein, we report a 74- year-old patient diagnosed with AML harboring a complex three-way translocation t(9;22;12)(q34;q13;q11) encoding for two isoforms of BCR-ABL transcript (b3a2;b2a2) and a concomitant type A mutation in the NPM1 gene. 2.CaseReport A 74-year-old male, with a history of type II diabetes and previous ischemic heart disease, was admitted on September 2014 to the emergency room of the hospital complaining severe asthenia and nasal bleeding. ere was no previous history of hematological disorders. Blood cell count dis- closed Hb 6.4gr/dL (12.0–16.0g/dL), Plts 35 × 10 9 /L (150–450 × 10 9 /L), a WBC of 62 × 10 9 (4.30–10.80 × 10 9 /L), basophils <2% (0–1.5%), and with 50% of blasts. e co- agulation profile showed INR 1.5 (0.8–1.2), fibrinogen 69mg/dL (200–400mg/dL), ATIII 77% (75–128%), and D-dimer 10757ng/mL (0–500ng/mL), suggesting a dis- seminated intravascular coagulopathy (DIC). Bone marrow aspirate showed infiltration by 89% of hypergranular leu- kemic blasts (Figures 1 and 2). Immunophenotyping of the leukemic population showed positivity for CD45, CD33, CD117, and MPO and negativity for CD34, HLA-DR, CD13, and CD56, compatible with a diagnosis of AML. Clinical examination showed mild Hindawi Case Reports in Hematology Volume 2019, Article ID 6707506, 4 pages https://doi.org/10.1155/2019/6707506