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Acute Myeloid Leukemia: CEBPA

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Diagnostic Molecular Pathology in Practice
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Abstract

The patient was an 18-year-old man who presented to the emergency department complaining of a two-week history of fatigue, lightheadedness, easy bruising, and the acute onset of gross hematuria. The patient had no significant past medical history, and his other family members were reportedly healthy. Physical examination revealed a thin appearing young man with scattered petechiae and ecchymoses of the skin. There was neither hepatosplenomegaly nor enlarged lymph nodes. A complete blood count revealed a white blood cell count of 7.5 K/?L with 15% circulating blasts, hemoglobin of 9.6 g/dL, and a platelet count of 56 K/?L. Due to the suspicion for acute leukemia, a bone marrow aspirate and biopsy was performed. Morphologic examination revealed effacement of the marrow by a population of leukemic blasts with monocytic features. By flow cytometry analysis, the blasts exhibited a precursor cell immunophenotype with surface expression of CD34 and CD117. The blasts expressed myeloid lineage antigens CD13, CD33, and myeloperoxidase with partial expression of monocytic lineage markers CD11c and CD64. The blasts also aberrantly expressed the T cell antigen CD7. Cytogenetic analysis of the bone marrow aspirate revealed a normal 46,XY male karyotype, and there was no evidence by FISH of an MLL, RUNX1(AML1)/RUNX1T1(ETO), or BCR/ABL1 gene rearrangement. Molecular analysis of DNA extracted from the bone marrow aspirate specimen showed no evidence of FLT3 or NPM1 mutations.

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Correspondence to Matthew W. Anderson .

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© 2011 Springer-Verlag Berlin Heidelberg

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Anderson, M.W. (2011). Acute Myeloid Leukemia: CEBPA . In: Schrijver, I. (eds) Diagnostic Molecular Pathology in Practice. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-19677-5_18

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  • DOI: https://doi.org/10.1007/978-3-642-19677-5_18

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-19676-8

  • Online ISBN: 978-3-642-19677-5

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