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

DISCUSSION

Our patient revealed no FLT3-ITD and NPMI mutations but double novel CEBPA mutations. The CEBPA gene mutations without a FLT3-ITD mutation were observed to have a better prognosis when they are biallelic, therefore, this may contribute to the literature by identification of monoallelic novel mutations with a good clinical outcome. In AML patients, the rate of having chromosomal aberrations increase compared to those carrying an additional CEBPA mutations. Biallelic CEBPA mutations generally result in favorable outcomes. Even limited clinical alterations show different clinical prognosis than expected CEBPA mutations, these changes are still not clearly understood in order to enlighten the clinical role of the CEBPA gene. There are limited studies about monoallelic CEBPA mutations showing the importance of the relationship between mutation and clinical outcomes [4,9,11,12]. Two duplications on the bZIP region including c.935_ 991dup (p.Gln330_Leu331insGlnLysValLeuGluLeuThr SerAspAsnAspArgLeuArgLysArgValGlu Gln) and c.925_ 951dup (p.Leu317_Thr318insGluThrGlnGlnLysValLeu GluLeu) that localize nearest to the site of the c.940_941 insCCGTCG TGG AGA CGA CGAAGG mutation, were also reported as pathogenic for AML in online databases. Despite the fact that clinical progresses of some monoallelic mutations are similar to biallelic mutations, more cases have to be evaluated for understanding how these frameshift mutations affect the prognosis in a favorable manner. Acknowledgments. We would like to thank all staff at the Department of Medical Genetics, Pamukkale University, Denizli, Turkey, for their technical support. Declaration of Interest. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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