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De novo acute myeloid leukemia with monocytoid blasts and erythrophagocytosis Clifford Blieden1, Yao-Shan Fan2, Jennifer Rose Chapman1 & Francisco Vega1 1

Division of Hematopathology, Department of Pathology and Laboratory Medicine, University of Miami/Sylvester Comprehensive Cancer Center, Miami, Florida 2 Department of Cytogenetics, University of Miami/Sylvester Comprehensive Cancer Center, Miami, Florida

Correspondence Francisco Vega, Division of Hematopathology, Department of Pathology and Laboratory Medicine, University of Miami/Sylvester Comprehensive Cancer Center, Building UMH, Pathology Department, Suite 4061, 1400 NW 12th Ave, Miami, FL 33136. Tel: 305-243-5760; Fax: 305-689-5899; E-mail: [email protected]. edu

Key Clinical Message Acute myeloid leukemia (AML) with t(8:16) is an infrequent acute leukemia subtype. It can occur de novo or more frequently therapy-related. The presence of blasts with monocytoid morphology and erythrophagocytosis suggest the presence of the t(8;16). Keywords AML with t(8;16), CREBBP, erythrophagocytosis, monoblasts, MYST3.

Funding Information No funding information provided. Received: 6 May 2014; Revised: 10 June 2014; Accepted: 12 July 2014 Clinical Case Reports 2014; 2(6): 333–335 doi: 10.1002/ccr3.120

Introduction A 50-year old woman with a history of low-grade carcinoid tumor of the jejunum treated with surgery presented, 14 months after this diagnosis, with epistaxis, shortness of breath, and pancytopenia. Bone marrow core biopsy demonstrated hypercellularity (Fig. 1A; 2009) with 80% blasts in the aspirate smear and mild trilineage dysplasia. The blasts were intermediate to large with monocytic features and small cytoplasmic vacuoles. The blasts were positive for CD4, CD68, and myeloperoxidase and negative for CD34. Some blasts contained in the cytoplasm erythroid cells (Fig. 1B, 5009) or fragments of erythrocytes/erythroid precursors (Fig. 1C and D; 4009, 5009). Cytogenetic studies revealed a complex karyotype: 45,XX,t(6;12) (q21;q12),t(8;16)(p11;p13),der(8)dic(8;18)(q22;p11.2) trp (8)(q11.2q22)[cp14]/46,XX[3]; that included the t(8;16) (p11;p13) (Fig. 1E). The presence of trp(8)(q11.2;q22) indicates triplication of this chromosomal region, confirmed by Flourescent In-Situ Hybridization (FISH) that showed three copies of the RUNX1T1 gene. The patient

subsequently underwent standard induction chemotherapy with daunorubicin and cytarabine. Two subsequent bone marrow samples showed normal morphology and normal karyotypes. The patient is awaiting allogenic bone marrow transplant. Acute myeloid leukemia (AML) with t(8:16) is an infrequent leukemia subtype. This leukemia is more frequent in women, has an aggressive course, frequent extramedullary involvement, disseminated intravascular coagulation, poor prognosis and often has monocytic differentiation [1, 2]. It can occur de novo or more frequently therapyrelated. The t(8;16) fuses MYST3 (at 8p11) with CREBBP (at 16p13) [3, 4]. MYST3 is a histone acetyltransferase which modulates transcription through co-activation of RUNX1. CREBBP interacts with the DNA-binding protein CREB and has also histone acetyltransferase activity. Erythrophagocytosis by blasts has been most frequently associated with monocytic leukemias with cytogenetic abnormalities involving (8p11). The presence of monocytoid blast morphology with eryhtrophagocytosis suggested the presence of the t(8;16) in this AML.

ª 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

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(A) (A)

(B) (B)

(C) (C)

(D) (D)

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Figure 1. Representative image of the blasts in the core biopsy specimen (A) and in the aspirate smears (B–D). Note the monocytoid appearance of the blasts with abundant cytoplasm, small cytoplasmic vacuoles, and erythrophagocytosis. Conventional kariotyping revealed a complex karyotype that included the t(8;16)(p11;p13). The chromosomes with rearrangements are indicated by arrows (E).

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Conflict of Interest None declared. References 1. Haferlach, T., A. Kohlmann, H. U. Klein, C. Ruckert, M. Dugas, P.M. Williams, W. Kern et al. 2009. AML with translocation t(8;16)(p11;p13) demonstrates unique cytomorphological, cytogenetic, molecular, and prognostic features. Leukemia 23:934–943. 2. Gervais, C., A. Murati, C. Helias, S. Truski, A, Eischen, E. Lippert et al. 2008. Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic,

ª 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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cytogenetic and molecular study by the groupe francophone de cytogenetique hematologique. Leukemia 22:1567–1575. 3. Borrow, J., V. P. Stanton, J. M. Andresen, R. Becher, F.G. Behm, R.S. Chaganti et al. 1996. The translocation t(8;16) (p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein. Nat. Genet. 14:33–41. 4. Rozman, M., M. Cam os, D. Colomer, N. Villamor, D. Costa, A. Carrio et al. 2004. Type I MOZ/CBP (MYST3/ CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation. Genes Chromosomes Cancer 40:140–145.

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De novo acute myeloid leukemia with monocytoid blasts and erythrophagocytosis.

Acute myeloid leukemia (AML) with t(8:16) is an infrequent acute leukemia subtype. It can occur de novo or more frequently therapy-related. The presen...
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