TWO NOVEL CEBPA MUTATIONS IN A TURKISH PATIENT WITH ACUTE MYELOID LEUKEMIA

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

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TWO NOVEL CEBPA MUTATIONS IN A TURKISH PATIENT WITH ACUTE MYELOID LEUKEMIA

机译：在土耳其患者中有两种新的CEBPA突变，急性髓性白血病

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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.

机译：1976年，法国、美国和英国的研究人员首次对急性髓系白血病（AML）进行了分类，并根据白血病细胞的细胞化学或组织学变化将其分为八个亚组（M0至M7）。FLT3-ITD、CEBPA和NPM1的基因突变在AML预后中最常见。CEBPA基因是一种造血转录因子，位于染色体19q13上。其在AML中的患病率在5.0%到14.0%之间。该患者因月经过多、一个月内计划外体重减轻和血小板水平低而被转诊到我们的诊所，并在临床和实验室检查中被诊断为AML。在此，我们报告一例患者携带两种新的致病性突变，通过Sanger测序方法在CEBPA基因上产生移码突变，即c.940_941; NSCCGTCG TGGAGACGAAGG和c.221_222delAC。

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来源
《Balkan journal of medical genetics: BJMG》 |2020年第2期|共4页
作者
Tokgun P. E.; Alay M. T.; Tekin Atli S.; Guler N.; Tokgun O.; Demiray A.; Karagenc N.; Durak T.; Celik B.; Akca H.;
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作者单位

Pamukkale Univ Dept Med Genet Denizli Turkey;

Cerrahpasa Univ Dept Med Genet Istanbul Turkey;

Pamukkale Univ Dept Med Genet Denizli Turkey;

Pamukkale Univ Dept Internal Med Div Hematol Denizli Turkey;

Pamukkale Univ Dept Med Genet Denizli Turkey;

Pamukkale Univ Dept Med Genet Denizli Turkey;

Pamukkale Univ Dept Med Genet Denizli Turkey;

Pamukkale Univ Dept Med Genet Denizli Turkey;

Pamukkale Univ Dept Internal Med Div Hematol Denizli Turkey;

Pamukkale Univ Dept Med Genet Denizli Turkey;

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原文格式 PDF
正文语种 eng
中图分类遗传学;
关键词
Acute myeloid leukemia (AML); CEBPA gene; Novel mutation; Peripheral blood; Sanger sequencing;

机译：急性髓性白血病（AML）;CEBPA基因;新型突变;外周血;Sanger测序;

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2. Efficacy and safety of decitabine combined with low-dose cytarabine,aclarubicin,and granulocyte colony-stimulating factor compared with standard therapy in acute myeloid leukemia patients with TP53 mutation [J] . Si-Si Chen, Qian Sun, Lan Cao, 中华医学杂志（英文版） . 2021,第012期
3. FLT3 and NPM1 mutations in Chinese patients with acute myeloid leukemia and normal cytogenetics [J] . Lei WANG, Yin-jun LOU, Zhi-mei CHEN, 浙江大学学报（英文版）（B辑：生物医学和生物技术） . 2010,第010期
4. FLT3 and NPM1 mutations in Chinese patients with acute myeloid leukemia and normal cytogenetics [J] . Lei WANG, Wei-lai XU, Hai-tao MENG, 浙江大学学报：B卷英文版 . 2010,第010期
5. Molecular Evaluation of CEBPA Gene Mutation in Normal Karyotype Acute Myeloid Leukemia: A Comparison of Two Methods and Report of Novel CEBPA Mutations from Indian Acute Myeloid Leukemia Patients [J] . Firoz Ahmad, Saket Rajput, Swarna Mandava, Genetic testing and molecular biomarkers . 2012,第7期

机译：正常核型急性髓性白血病中CEBPA基因突变的分子评估：两种方法的比较和印度急性髓性白血病患者新型CEBPA突变的报道
6. Prognostic significance of CEBPA mutations in a large cohort of younger adult patients with acute myeloid leukemia: impact of double CEBPA mutations and the interaction with FLT3 and NPM1 mutations. [J] . Green CL, Koo KK, Hills RK, Journal of Clinical Oncology . 2010,第16期

机译：CEBPA突变在一大批年轻的急性髓性白血病患者中的预后意义：双重CEBPA突变的影响以及与FLT3和NPM1突变的相互作用。
7. Classification of acute myeloid leukemia by the revised fourth edition World Health Organization criteria: a retrospective single-institution study with appraisal of the new entities of acute myeloid leukemia with gene mutations in NPM1 and biallelic CEBPA [J] . Kansal Rina Human Pathology . 2019,第1期

机译：经修订的第四版世界卫生组织标准的急性髓性白血病分类：回顾性单机制研究，评估急性髓性白血病新实体，NPM1和双裂式CEBPA中的基因突变
8. Ras gene mutation in acute myeloid leukemia and Myelodysplastic syndromes: a meta-analysis of its occurrence and prognostic relevance [C] . Cheng Jingru, Wang Peng, Zhang Tai, International Conference on Advanced Materials and Computer Science . 2016

机译：RAS基因突变在急性髓性白血病和髓细胞增强综合征中：荟萃分析其发生和预后相关性
9. Loss of Egr1 plays a role in murine leukemogenesis and may play a role in the development of acute myeloid leukemia and therapy-related acute myeloid leukemia. [D] . Joslin, John M. 2006

机译：Egr1的丢失在小鼠白血病的发生中起作用，并且可能在急性髓细胞性白血病和与治疗有关的急性髓细胞性白血病的发展中起作用。
10. Two Novel CEBPA Mutations in a Turkish Patient with Acute Myeloid Leukemia [O] . PE Tokgun, MT Alay, S Atli Tekin, 2020

机译：在土耳其患者中有两种新的CEBPA突变急性髓性白血病
11. Characterization of CEBPA Mutations in Acute Myeloid Leukemia: Most Patients with CEBPA Mutations Have Biallelic Mutations and Show a Distinct Immunophenotype of the Leukemic Cells [O] . Liang-In Lin, Chien-Yuan Chen, Dong-Tsamn Lin, 2005

机译：急性髓性白血病中CEBPA突变的表征：大多数CEBPA突变患者具有双噬突变，显示出白血病细胞的不同免疫蛋白型
12. Chemotherapy in a Transplantable Myeloid Leukemia in Brown Norway Rats: Studies on BNML as a Model for Human Acute Myeloid Leukemia [R] . Golly, L. P. 1980

机译：Brown Norway大鼠可移植骨髓性白血病的化疗：BNmL作为人类急性髓性白血病模型的研究

TWO NOVEL CEBPA MUTATIONS IN A TURKISH PATIENT WITH ACUTE MYELOID LEUKEMIA

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