骨髓增生异常综合征中fms样酪氨酸激酶3突变频率的研究

Nesim Akın, A. Turgutkaya, S. I. Yavaşoğlu, Esra Örenlili Yaylagül, Celal Ülger, A. Bolaman, I. Yavaşoğlu
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摘要

简介:fms样酪氨酸激酶3类(FLT3)突变在急性髓母细胞白血病(AML)中预后差,复发率高,总生存率降低。这种突变也被证明在骨髓增生异常综合征(MDS),慢性髓细胞白血病和急性淋巴细胞白血病。本研究纳入94例mds诊断患者,我们试图调查FLT3突变频率(酪氨酸激酶结构域tkd和内部串联重复itd)。材料与方法:采用聚合酶链反应(PCR)、限制性内切片段长度多态性、琼脂糖凝胶电泳等方法对突变株进行分析。采用K3-EDTA管采集血样,采用基因组DNA分离试剂盒(GeneMark, Cat No: DP023P)分离总DNA。为了检测FLT3- itd突变,使用FAM (Carboxyfluorescein)标记的ITD-11F和HEX (Hexachloro-Fluorescein)标记的ITD-12R引物在热循环器(Eppendorf)中扩增FLT3外显子11和12的330碱基对片段。同样,为了检测D835突变,使用引物扩增FLT3基因区域外显子17的115- bp区域。结果:1例患者FLT3-ITD阳性(1.1%)。患者64岁,根据世界卫生组织2016年髓系肿瘤分类,被诊断为mds -过量blast 2型。他在19个月内转化为AML,随后在1个月后死亡。未发现酪氨酸激酶结构域突变患者。结论:FLT3突变被认为是确定AML预后的重要参数。FLT3筛查的常规检查和靶向FLT3抑制高风险MDS的潜力可能在未来被考虑。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Investigation of FMS-Like Tyrosine Kinase 3 Mutation Frequency in Myelodysplastic Syndrome
Introduction: FMS-Like Tyrosine Kinase Class 3 (FLT3) mutations harbor poor prognosis, high relapse, and decreased overall survival in acute myeloblastic leukemia (AML). This mutation is also known to be demonstrated in myelodysplastic syndrome (MDS), chronic myelomonocytic leukemia and acute lymphoblastic leukemia. This study included 94 MDS-diagnosed patients and we tried to investigate FLT3 mutation frequency (as tyrosine kinase domain-TKD and internal tandem duplication-ITD). Materials and Methods: Polymerase chain reaction (PCR), restriction fragment length polymorphism, and agarose-gel electrophoresis methods were used to analyze the mutation. The blood samples were collected in K3-EDTA tubes, and total DNA was isolated using genomic DNA isolation kits (GeneMark, Cat No: DP023P). For the detection of FLT3-ITD mutation, PCR was performed to amplify a 330- base pair fragment of exons 11 and 12 of FLT3 using FAM (Carboxyfluorescein)-labeled ITD-11F and HEX (Hexachloro-Fluorescein )-labeled  ITD-12R primers in a thermal cycler (Eppendorf). Similarly, to detect D835 mutation, a 115- bp region of exon 17 of the FLT3 gene region was amplified using primers. Results: One patient was found FLT3-ITD positive (1.1%). The patient was 64-year-old and diagnosed with MDS-excess blast type 2 according to the World Health Organisation 2016 myeloid neoplasm classification. He transformed to AML within 19 months and subsequently died after 1 month. No patient with tyrosine kinase domain mutation was detected. Conclusion: FLT3 mutation is considered a significant parameter to define prognosis in AML. The routine workup of FLT3 screening and the potential of targeting FLT3 inhibition for high-risk MDS may be taken into consideration in the future.
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