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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Abstract
Acute myeloid leukemia (AML) was first categorized
in 1976 by French, American and British researchers, and
divided into eight subgroups (M0 to M7), depending on the
cytochemical or histological changes in the leukemic cells.
The gene mutations of FLT3-ITD, CEBPA and NPM1 are
the most common that cooperate together in the prognosis
of AML. The CEBPA gene that is a hematopoietic transcription
factor, is located on chromosome 19q13.11, and
its prevalence is between 5.0 and 14.0% in AML. The patient
was referred to our clinic suffering from menorrhagia,
unplanned weight loss in a month and low platelet levels,
and was diagnosed with AML on clinical and laboratory
examination. Here, we report a patient carrying two novel
pathogenic mutations that create a frameshift mutation on
the CEBPA gene, c.940_941insCCGTCG TGGAGACGA
CGAAGG and c.221_222delAC by Sanger sequencing
methodology.
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