伴TP53基因异常的急性白血病患者的临床特征和预后分析

Clinical Characteristics and Efficacy Analysis of Acute Leukemia Patients with Abnormal TP53 Gene Abnormalities

目的 探讨伴TP53基因异常的急性白血病患者的临床症状和预后。方法 挑选急性白血病患者560例,经二代测序(NGS)技术检测到136例伴基因异常的急性白血病患者,使用含有108种白血病相关基因的测序技术实施表一研究,常规R显带技术实施核型研究。与TP53基因无异常为对照,分析伴TP53基因异常的急性白血病患者的基因异常检出率、临床特征、疗效、预后。结果 560例急性白血病患者中,136例(24.29%)伴有TP53基因异常,其中骨髓增生异常综合征相关急性髓系白血病4例,急髓系白血病(AML)微化13例,AML成熟43例,急性粒-单核白血病34例,急性单核白血病和纯红组织白血病分别为21例。异常组接受移植和不接受移植情况分别为34.56%(47/136)、65.44%(89/136),与无异常组的33.02%(140/424)、66.98%(284/424)比较,无显著差异(P>0.05);异常组复杂核型[50.00%(68/136)]较无异常组[7.08%(30/424)]高,非复杂核型[43.38%(59/136)]较无异常组[89.86%(381/424)]低(P<0.05),且缺失核型[6.62%(9/136)]与无异常组[3.07%(13/424)]比较无显著差异(P>0.05);与无异常组患者比较,伴有TP53基因异常组患者白细胞计数(WBC)、血红蛋白(HGB)、乳酸脱氢酶(LDH)较低,且血小板(PLT)较高(P<0.05)。无异常组治疗完全缓解率[94.10%(399/424)]较异常组[22.06%(30/136)]高(P<0.05)。截止末期随访日,136例基因异常的急性白血病患者死亡72例(52.94%),较无异常组死亡率(24.06%)高(P<0.05)。结论 伴TP53基因异常的急性白血病患者临床特征复杂,其突变位点主要位于DNA结合结构,且伴TP53基因异常会加重患者临床症状,并影响预后。

Objective To investigate the clinical symptoms and prognosis of acute leukemia patients with abnormal TP53 gene.Methods 560 patients with acute leukemia were selected.136 patients with abnormal genes were detected by second generation sequencing(NGS) technology.The sequencing technology containing 108 leukemia related genes was used to carry out the study in Table 1,and the conventional R-banding technology was used to carry out the karyotype study.Compared with no abnormal TP53 gene,the detection rate,clinical characteristics,therapeutic effect and prognosis of acute leukemia patients with abnormal TP53 gene were analyzed.Results Among 560 patients with acute leukemia,136(24.29%) were accompanied by TP53 gene abnormality,including 4 myelodysplastic syndrome related acute myeloid leukemia,13 acute myeloid leukemia(AML) microminiaturization,43 AML maturation,34 acute myelomonocytic leukemia,21 acute mononuclear leukemia and pure red tissue leukemia,respectively.34.56%(47/136) and 65.44%(89/136) of the abnormal group received and did not receive transplantation,respectively,and there was no significant difference compared with 33.02%(140/424) and 66.98%(284/424) of the normal group(P>0.05);The complex karyotype [50.00%(68/136)] in the abnormal group was higher than that in the non abnormal group [7.08%(30/424)],and the non complex karyotype [43.38%(59/136)] was lower than that in the non abnormal group [89.86%(381/424)](P<0.05),and there was no significant difference between the missing karyotype [6.62%(9/136)] and the non abnormal group [3.07%(13/424)](P>0.05);Compared with the patients without abnormal TP53 gene,the patients with abnormal TP53 gene had lower white blood cell count(WBC),hemoglobin(HGB),lactate dehydrogenase(LDH) and higher platelet count(PLT)(P<0.05).The complete remission rate in the non abnormal group 94.10%(399/424),was higher than that in the abnormal group [(22.06%(30/136) ](P<0.05).In 136 patients with acute leukemia with abnormal gene,72 patients(52.94%) died by the end of follow-up period,which was higher than that in the group without abnormal gene(24.06%)(P<0.05).Conclusion The clinical features of acute leukemia patients with abnormal TP53 gene are complex,and the mutation sites are mainly located in the DNA binding structure,and the patients with abnormal TP53 gene will aggravate the clinical symptoms and affect the prognosis.