Two Novel CEBPA Mutations in a Turkish Patient with Acute Myeloid Leukemia
| Autor: | T Durak, Pervin Elvan Tokgun, Onur Tokgun, N Güler, S Atli Tekin, Hakan Akca, M T Alay, B Celik, Karagenç N, Aydın Demiray |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Oncology
Acute myeloid leukemia (AML) CEBPA gene Novel mutation Peripheral NPM1 medicine.medical_specialty Sanger sequencing Peripheral blood Case Report Gene mutation QH426-470 Frameshift mutation 03 medical and health sciences symbols.namesake 0302 clinical medicine Internal medicine hemic and lymphatic diseases CEBPA Genetics Medicine Genetics (clinical) business.industry Chromosome Myeloid leukemia Haematopoiesis 030220 oncology & carcinogenesis blood symbols business 030215 immunology |
| Zdroj: | Balkan Journal of Medical Genetics : BJMG Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 99-102 (2021) |
| ISSN: | 2199-5761 1311-0160 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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