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[KIT及其他伴随基因突变对核心结合因子急性髓系白血病患者预后的影响]

[The impact of KIT and other concomitant gene mutations on the prognoses of patients with core-binding factor acute myeloid leukemia].

作者信息

Wang F, Wang W, Liu M, Zhang Y, Chen X, Yuan L L, Ma X L, Nie D J, Wang M Y, Zhang Y, Zhang W, Liu M Y, Liu H X

机构信息

Division of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang 065201, China.

Department of Hematology, Affiliated Hospital of Qingdao University, Qingdao 266003, China.

出版信息

Zhonghua Yi Xue Za Zhi. 2020 Jan 21;100(3):225-229. doi: 10.3760/cma.j.issn.0376-2491.2020.03.013.

Abstract

To study the impact of KIT and other concomitant gene mutations on the prognoses of patients with core-binding factor acute myeloid leukemia (CBF-AML). A total of 104 newly diagnosed patients with CBF-AML in Hebei Yanda Lu Daopei Hospital from January 2014 to February 2018 were analyzed, and high-throughput gene sequencing for the detection of mutations among 58 genes was executed. Also, the clinical features of KIT mutation-positive CBF-AML (KIT+CBF-AML) patients and the effects of other concomitant gene mutations on the prognoses of patients were also analyzed. A total of 56 cases (53.85%) with KIT mutations were found in 104 CBF-AML patients. Among this, KIT D816 mutation was the most common (32 patients), followed by the N822 mutation (17 patients). Patients with KIT+CBF-AML have a higher proportion of bone marrow blasts at the time of diagnoses and are more likely to have sex chromosome loss. Among the 52 patients with KIT+CBF-AML who were followed up, the allogeneic hematopoietic stem cell transplantation (allo-HSCT) group had a higher overall survival rate (OS) than that of the chemotherapy group (88.9% vs 57.1%, χ(2)=6.076, 0.05). The event-free survival (EFS) and OS of patients with KIT+CBF-AML with FLT3 mutation were both significantly lower than those of the FLT3 mutation-negative group (EFS: 40.0% vs 72.3%, χ(2)=6.557, 0.05; OS: 60.0% vs 87.2%, χ(2)=8.305, 0.05). The OS of the patient with TET2 mutation was lower than that of the TET2 mutation-negative group (50.0% vs 87.5%, χ(2)=4.130, 0.05). Patients with KIT+CBF-AML with concomitant gene mutations, especially FLT3 and TET2, have poor prognoses, which can be improved by allo-HSCT.

摘要

研究KIT及其他伴随基因突变对核心结合因子急性髓系白血病(CBF-AML)患者预后的影响。分析了2014年1月至2018年2月在河北燕达陆道培医院新诊断的104例CBF-AML患者,并进行了高通量基因测序以检测58个基因中的突变。此外,还分析了KIT突变阳性的CBF-AML(KIT+CBF-AML)患者的临床特征以及其他伴随基因突变对患者预后的影响。104例CBF-AML患者中,共发现56例(53.85%)存在KIT突变。其中,KIT D816突变最为常见(32例患者),其次是N822突变(17例患者)。KIT+CBF-AML患者诊断时骨髓原始细胞比例较高,且更易出现性染色体缺失。在52例接受随访的KIT+CBF-AML患者中,异基因造血干细胞移植(allo-HSCT)组的总生存率(OS)高于化疗组(88.9%对57.1%,χ(2)=6.076,P<0.05)。伴有FLT3突变的KIT+CBF-AML患者的无事件生存率(EFS)和OS均显著低于FLT3突变阴性组(EFS:40.0%对72.3%,χ(2)=6.557,P<0.05;OS:60.0%对87.2%,χ(2)=8.305,P<0.05)。伴有TET2突变患者的OS低于TET2突变阴性组(50.0%对87.5%,χ(2)=4.130,P<0.05)。伴有基因突变,尤其是FLT3和TET2的KIT+CBF-AML患者预后较差,allo-HSCT可改善其预后。

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