Two Novel CEBPA Mutations in a Turkish Patient with Acute Myeloid Leukemia

P E Tokgun; M T Alay; S Atli Tekin; N Güler; O Tokgun; A Demiray; N Karagenc; T Durak; B Celik; H Akca

doi:10.2478/bjmg-2020-0024

Two Novel CEBPA Mutations in a Turkish Patient with Acute Myeloid Leukemia

Balkan J Med Genet. 2021 Mar 23;23(2):99-102. doi: 10.2478/bjmg-2020-0024. eCollection 2020 Nov.

Authors

P E Tokgun¹, M T Alay², S Atli Tekin¹, N Güler³, O Tokgun¹, A Demiray¹, N Karagenc¹, T Durak¹, B Celik³, H Akca¹

Affiliations

¹ Department of Medical Genetics, Pamukkale University, Denizli, Turkey.
² Department of Medical Genetics, Cerrahpaşa University, Istanbul, Turkey.
³ Department of Internal Medicine, Division of Hematology, Pamukkale University, Denizli, Turkey.

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.

Keywords: Acute myeloid leukemia (AML); CEBPA gene; Novel mutation; Peripheral blood; Sanger sequencing.