Analysis Of Clinical And Laboratory Characteristics Of Myelodysplastic Syndrome Patients With Trisomy 8

BackgroundMyelodysplastic syndromes(MDS)is a group of heterogeneous clonal hematopoietic stem cell diseases characterized by ineffective hematopoietic function leading to one or more lineage cytopenia and a high risk of transformation to acute myeloid leukemia.The clinical course of MDS is varied,some patients are asymptomatic for a long time,mild hemocytopenia,other patients develop progressive leukemia in a short time after diagnosis.The incidence of MDS is about 3-5/100000 people.The incidence of elderly male patients over 70 years old is higher.With the increase of age,this incidence will increase significantly.Cytogenetic abnormalities in MDS are the most valuable independent prognostic factors,such as Del(5q),trisomy 8,del(20q),del(7q),monosomy 7 and complex karyotypes are common chromosome aberrations in MDS.It is reported that about 70%of MDS patients have clonal chromosome aberrations at the first visit.These chromosomal abnormalities have a significant impact on the behavior of malignant cells,disease progression,response to therapeutic drugs,and the overall survival rate of patients with MDS.For example,some treatments show particular efficacy in specific cytogenetic subgroups.Among the cytogenetic abnormalities in MDS,trisomy 8(+8)is one of the most common chromosomal abnormalities in adult MDS patients,with an incidence of about 10%.Trisomy 8 is thought to be a secondary or late event in the MDS transformation process.In 2016,WHO classified trisomy 8 as the type of moderate chromosome prognosis.Although+8 has a high frequency in MDS,its epidemiology,etiology,clinical effects,association with other chromosome abnormalities and functional and pathogenic consequences need to be further clarified.ObjectivesTo analyze and compare the clinical and laboratory characteristics of patients with myelodysplastic syndrome(MDS)with trisomy 8 and normal karyotype,in order to find important clinical prognostic factors and guide clinical treatment decision.MethodsTo collect the clinical and laboratory data of 56 patients with myelodysplastic syndrome treated in our hospital from January 2010 to September 2019,including symptoms of onset,age,sex,WHO subtype,IPSS-R score,hemoglobin,platelet,neutrophil,monocyte,primordial cell ratio,bone marrow primordial cell ratio,chromosome karyotype,gene mutation,survival time,etc.Then all the subjects were divided into four groups:normal karyotype,+8,isolated+8 and+8 with additional karyotype abnormalities for comparison and summary analysis.Results1.There were 56 cases in this study,including 39 male patients and 17 female patients.The age was 17 to 76 years old,and the median age was 50 years old.Among them,28 cases(50%)had trisomy 8,8 cases had isolated+8,8 cases had+8 cases with one extra chromosome abnormality,and 2 cases had+8 with additional two kinds of chromosome abnormalities(that is,complex karyotype).According to WHO 2016 revised classification,there were 23 cases of MDS-EB-1,21 cases of MDS-EB-2,8 cases of MDS-MLD and 4 cases of MDS-U.2.(1)The median survival time((OS))of patients with normal karyotype and patients with extra chromosome abnormalities in+8 and+8 was 9 months,22 months and 7 months,respectively.There was no significant difference in OS between patients with normal karyotype and patients with isolated+8MDS,but OS in patients with+8 extra abnormal MDS was significantly shorter than that in patients with isolated+8MDS(p=0.009).(2)In our study,the age of onset and the absolute value of neutrophils had significant effects on OS(p=0.025 and 0.019,respectively).Most of the MDS patients with+8 were male,accounting for 71.4%of all these+8 patients.Besides,isolated+8 MDS was also mostly male,accounting for 88.9%of all isolated+8 patients,suggesting that trisomy 8 was related to gender.(3)The median age of onset of isolated+8MDS patients in this study was 43.5 years old,which was significantly lower than that of+8 patients with additional abnormalities(62 years old).The difference was statistically significant(p=0.02).(4)The proportion of U2AF1 mutations in patients with+8 was higher than those with normal karyotype,and all of them were isolated+8,mostly male,mainly distributed in MDS-EB-1 subtypes,suggesting that U2AF1 mutation may be related to trisomy 8.ConclusionIn MDS patients,trisomy 8 is related to sex,mostly male patients,mainly distributed in MDS-EB-1 subtype,the age of onset is younger for isolated+8,and is closely related to U2AF1.