TWO NOVEL CEBPA MUTATIONS IN A TURKISH PATIENT
WITH ACUTE MYELOID LEUKEMIA
Tokgun PE, Alay MT, Atli Tekin S, Güler N, Tokgun O, Demiray A,
Karagenc N, Durak T, Celik B, Akca H
*Corresponding Author: Professor Hakan Akca, Department of Medical Genetics, School of Medicine,
Pamukkale University, Çamlaraltı, Denizli, Turkey 20070. Tel.: +90-258-296-48-04. Fax: +90-258-296-
17-65. E-mail: hakca@pau.edu.tr
page: 99
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CASE REPORT
A 37-year-old woman was referred to the Haematology
Department at Pamukkale University Hospital, Denizli,
Turkey, with menorrhagia, unplanned weight loss in
a month and a low platelet count and no family history of
leukemia. Her physical examination was not sufficiently
descriptive for hepatosplenomegaly/lymphadenopathy
and abdominal ultrasonography was normal. The initial
complete blood count showed hemoglobin (Hb) level of
7.7 g/dL, platelet count of 30 K/uL, mean corpuscular
volume (MCV) 70.4 L/L, eosinophils count of 9.2%,
lymphocytes count of 70.3%, and neutrophils count
of 7.7%. Bone marrow biopsy and aspiration showed
that white blood cell (WBC) differential is notable for
60.0% blasts and 30.0-40.0% blast, respectively. On
flow cytometry, these blasts were immunopositive for
CD34, cytoplasmic myeloperoxidase (MPO), CD 36,
CD 33, CD 13, CD 117, TDT and CD24, while they
were negative for CD 79a and cytoplasmic CD3. Cytogenetic
analysis showed a karyotype 46,XX,del(12p)
[5]/46,XX[1]. Molecular analysis revealed no FLT3-ITD
and NPM1 mutations, while on FISH analysis 5q31del,
t(15;17), 17p13.1(p53)del, t(8;21), t(6;11), 20q12del,
inv16, t(16;16) monosomy 7 and absence of del7q was
detected. Tumor markers for CEA, CA 125 and CA 19-9
were normal.
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