Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemia
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 co...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2021-03-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2020-0024 |
| _version_ | 1797705348798218240 |
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| author | Tokgun PE Alay MT Atli Tekin S Güler N Tokgun O Demiray A Karagenc N Durak T Celik B Akca H |
| author_facet | Tokgun PE Alay MT Atli Tekin S Güler N Tokgun O Demiray A Karagenc N Durak T Celik B Akca H |
| author_sort | Tokgun PE |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T05:34:49Z |
| format | Article |
| id | doaj.art-cb1eb041cb9c4bce9fee7ded23034ed1 |
| institution | Directory Open Access Journal |
| issn | 1311-0160 |
| language | English |
| last_indexed | 2024-03-12T05:34:49Z |
| publishDate | 2021-03-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-cb1eb041cb9c4bce9fee7ded23034ed12023-09-03T06:32:19ZengSciendoBalkan Journal of Medical Genetics1311-01602021-03-012329910210.2478/bjmg-2020-0024Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemiaTokgun PE0Alay MT1Atli Tekin S2Güler N3Tokgun O4Demiray A5Karagenc N6Durak T7Celik B8Akca H9Department of Medical Genetics, Pamukkale University, Denizli, TurkeyDepartment of Medical Genetics, Cerrahpaşa University, Istanbul, TurkeyDepartment of Medical Genetics, Pamukkale University, Denizli, TurkeyDepartment of Internal Medicine, Division of Hematology, Pamukkale University, Denizli, TurkeyDepartment of Medical Genetics, Pamukkale University, Denizli, TurkeyDepartment of Medical Genetics, Pamukkale University, Denizli, TurkeyDepartment of Medical Genetics, Pamukkale University, Denizli, TurkeyDepartment of Medical Genetics, Pamukkale University, Denizli, TurkeyDepartment of Internal Medicine, Division of Hematology, Pamukkale University, Denizli, TurkeyDepartment of Medical Genetics, Pamukkale University, Denizli, TurkeyAcute 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.https://doi.org/10.2478/bjmg-2020-0024acute myeloid leukemia (aml)cebpa genenovel mutationperipheral bloodsanger sequencing |
| spellingShingle | Tokgun PE Alay MT Atli Tekin S Güler N Tokgun O Demiray A Karagenc N Durak T Celik B Akca H Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemia Balkan Journal of Medical Genetics acute myeloid leukemia (aml) cebpa gene novel mutation peripheral blood sanger sequencing |
| title | Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemia |
| title_full | Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemia |
| title_fullStr | Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemia |
| title_full_unstemmed | Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemia |
| title_short | Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemia |
| title_sort | two novel cebpa mutations in a turkish patient with acute myeloid leukemia |
| topic | acute myeloid leukemia (aml) cebpa gene novel mutation peripheral blood sanger sequencing |
| url | https://doi.org/10.2478/bjmg-2020-0024 |
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