两种异常核型髓系肿瘤的基因突变及临床相关性分析

doi:10.3969/j.issn.1004-616x.2021.04.010

Abstract

Abstract: OBJECTIVE: To investigate clinical features, laboratory findings and survival in myeloid leukemia patients who had +1,der (1;7)(p10;q10) or -7/7q- abnormal karyotypes,and to guide their clinical diagnosis,treatment and prognosis. METHODS: From January 2013 to November 2020,clinical data of 21 patients with the mentioned karyotype abnormalities,including myelodysplastic syndrome (MDS),acute myeloid leukemia (AML) and myeloproliferative neoplasm (MPN),were analyzed. Bone marrow fluid samples were collected and used to detect 38 disease-related gene mutations using a next generation sequencing method and collected data were evaluated to achieve our objectives. RESULTS: Among the 21 patients,those with der(1;7) were predominantly male (P=0.024),had significantly lower platelet counts (P=0.036) and higher CRP (P=0.029) than those with -7/7q-. Immunophenotypes of the two groups were similar (χ²=0.078,P=1.000). There were 37 mutations in 13 genes among 15 patients (71.4%). The mutation frequencies of RUNX1 (21.4%),IDH1/IDH2 (21.4%) and JAK2 (21.4%) were higher in patients with der(1;7),and SETBP1 (17.4%),TET2 (17.4%),ASXL1 (13%),U2AF1 (13%) and DNMT3A (13%) were higher in patients with 7/7q- than the comparison groups. There was significant differences in gene mutation compositions between the two groups (P=0.012),and significant correlations between gene mutations and karyotype abnormalities (r_s=0.522,P=0.001). The der(1;7) patients had significantly shorter overall and median survival durations than the -7/7q- patients (P=0.045,HR=2.844). In the der(1;7) patients,the median survival times of those with the RUNX1 mutation were shorter than those with the wild type (P=0.435). The median survival and total survival times for those with the ASXL1 mutation were significantly shorter than those with the wild type among the 7/7q- patients (P=0.018).CONCLUSION: Our data indicate that myeloid leukemia with the two abnormal karyotypes:der(1;7) or -7/7q-,were independent disease subtypeswith significant differences in laboratory findings,gene mutations and clinical outcomes.

Key words: cytogenetics, der(1;7), abnormal karyolypes, myelodysplastic syndrome, acute myelogenous leukemia, genetic mutations

CLC Number:

R551.3

XU Qilu, GAO Hui, RAN Xuehong, WANG Junjun, ZHANG Junying, LIU Liping. Gene mutation and clinical correlation analyses of myeloid leukemia with abnormal karyotypes[J]. Carcinogenesis, Teratogenesis & Mutagenesis, 2021, 33(4): 296-301,306.

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Gene mutation and clinical correlation analyses of myeloid leukemia with abnormal karyotypes

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