Balkan Journal of Medical Genetics

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

RESULTS

The patient exhibited two novel CEBPA in-frame mutations in leukemic cells: c.221_222delAC and c.940_941 insCCGTCG TGG AGACGACGAAGG deletion/insertion mutations which localized on the TAD1 and bZIP regions of the CEBPA gene, respectively (Figure 1). The c.940_ 941insCCGTCGTGGAGACGACGAAGG and c221_222 delAC frameshift mutations were monoallelic [Figure 2(a) and 2(b)]. The c.221_222delAC mutation corresponds to the amino acid alteration p.Asn74Arg fs*33 that was classified as pathogenic due to resulting in a premature stop codon, while c.940_941insCCGTCGTGG AGACGACGA AGG corresponds to an insertion of more than two amino acids. These alterations have not been found in ExAC or in 1000Genomes and the SNP database of human genome variations (http://www.ncbi.nlm.nih.gov/snp). We report for the first time double-frameshift mutations together in an AML patient.

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