Dammag Enas A, Hamed Nahla A M, Elhalawani Nabil A, Kassem Heba S, Ayad Mona W
1Hematology Department, Internal Medicine, Faculty of Medicine, Taiz University, Taiz, Yemen.
2Hematology Department, Internal Medicine, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Indian J Hematol Blood Transfus. 2020 Jan;36(1):91-96. doi: 10.1007/s12288-019-01172-z. Epub 2019 Aug 20.
Acute myelogenous leukemia (AML) is a heterogeneous disease characterized by myeloid progenitor cells uncontrolled proliferation gradually replacing normal hematopoiesis. To evaluate Ten Eleven Translocation 2 gene (TET2) single nucleotide polymorphism (SNP) (rs2454206, rs34402524, rs61744960) in AML, and chronic myeloid leukemia (CML) in relation to their disease prognostic criteria. The study included 136 subjects; 52 AML, 54 CML and 30 subjects as control group matched for age and sex. Routine investigations including CBC, bone marrow aspiration, flow cytometry biochemical investigations and cytogenetics and molecular study were performed accordingly. DNA extraction and SNP assay for TET2 gene polymorphism was done using (Thermo-Fisher predesigned SNP, USA) PCR prism 7500. The mean age was 43.4 ± 14.0 years in AML patients, 45.98 ± 15.7 years in CML patients and 39.3 ± 6.587 years in control group ( > 0.05). The frequency of TET2 SNP rs 34402524 ranged from heterozygous to homozygous in both AML (46%, 54%) and CML (48%, 46.2%) groups but was mainly homozygous among the control (80%) group ( = 0.012). TET2 SNP rs 2454206 was mainly wild in CML (65.4%) and control (63.3%) groups compared to AML as wild was only in (46%) and heterozygous in (44%) with only 10% being homozygous ( = 0.046). TET2 SNP rs 61744960 showed a homozygous pattern among all three group (AML CML and control) showing no statistical significance ( = 0.528). Eventhough, higher non responders to treatment were among homozygous and heterozygous groups yet, response to therapy as respect to specific TET2 SNP showed no significant variation ( > 0.05). TET2 SNP in CML cases did not alter the prognostic criteria as no statistical significance was noted ( > 0.05) except for TET2 SNP rs 34402524 where homozygous cases had larger spleen size ( = 0.019). TET2 SNP is common in Egyptian myeloid neoplasm. This is the first study in this field and further studies are recommended to investigate TET2 and relation to other hematological malignancies and leukemogenesis transformation.
急性髓系白血病（AML）是一种异质性疾病，其特征为髓系祖细胞不受控制地增殖，逐渐取代正常造血功能。为了评估急性髓系白血病（AML）和慢性髓系白血病（CML）中10-11易位基因2（TET2）单核苷酸多态性（SNP）（rs2454206、rs34402524、rs61744960）与疾病预后标准的关系。该研究纳入了136名受试者，其中52例AML患者、54例CML患者以及30名年龄和性别匹配的对照组受试者。相应地进行了包括全血细胞计数、骨髓穿刺、流式细胞术生化检查以及细胞遗传学和分子研究等常规检查。使用（美国赛默飞世尔预设计SNP）PCR棱镜7500进行TET2基因多态性的DNA提取和SNP检测。AML患者的平均年龄为43.4±14.0岁，CML患者为45.98±15.7岁，对照组为39.3±6.587岁（>0.05）。TET2 SNP rs34402524在AML组（46%，54%）和CML组（48%，46.2%）中的频率从杂合子到纯合子不等，但在对照组（80%）中主要为纯合子（P=0.012）。与AML组相比，TET2 SNP rs2454206在CML组（65.4%）和对照组（63.3%）中主要为野生型，AML组中野生型仅占46%，杂合子占44%，纯合子仅占10%（P=0.046）。TET2 SNP rs61744960在所有三组（AML、CML和对照组）中均呈现纯合子模式，无统计学意义（P=0.528）。尽管纯合子和杂合子组中对治疗无反应者较多，但针对特定TET2 SNP的治疗反应无显著差异（>0.05）。CML病例中的TET2 SNP未改变预后标准，除TET2 SNP rs34402524外无统计学意义（>0.05），rs34402524纯合子病例的脾脏肿大更明显（P=0.019）。TET2 SNP在埃及髓系肿瘤中很常见。这是该领域的第一项研究，建议进一步研究以探讨TET2及其与其他血液系统恶性肿瘤和白血病发生转化的关系。
