Clinical And Cytogenetic Study Of Chromosome 1 Abnormality In Myelodysplastic Syndrome

Backgroud:40 to 60 percent patients with myelodysplastic syndrome had nonrandom chromosomal abnormalities, the aberration of chromosome -5/5q-、-7/7q-、+8、20q-和-Y is common in myelodysplastic syndrome, Other exceptions include 1q trisomy, t(1;7)(q10;p10)、idic(X) (q13)、t(3;5)(q25;q34) and complex anomaly, etc. Chromosome 1 abnormality in myelodysplastic syndrome incidence is about 3-8%. At present, such reports hadn’t been seen so much.Objective:To explore the incidence, karyotype characteristics, clinical features and outcome of chromosome 1 abnormality in myelodysplastic syndrome, provide a reference for treatment and prognosis of this patients.Methods:672 diagnosed patients of MDS between January 2010 and December 2013 were enrolled in our hospital. In these investigated patients there were 41 cases (6.1%) with chromosome 1 anomaly. This patients’age, sex, hemogram, bone marrow cell percentage, immunophenotype, bone marrow biopsy, chromosome karyotype data were analyzed retrospectively, Check the diagnosis and classification based on diagnosis and effect appraisal of blood diseases, Expert consensus on diagnosis and treatment of myelodysplastic syndrome (2014), description and review the chromosome karyotype with ISCN2013,Prognosis grouping according to IPSS-R, Curative effect evaluation of MDS reference international working group on the curative effect of standard. The effects were evaluated mainly by overall survival (OS) and the time progression into acute leukemia., Survival analysis according to the RAEB group and non RAEB group, abnormal chromosome number> 3 groups and≤3 groups,1q trisomy and non 1q trisomy.Results:41cases(6.1%) were found with chromosome 1 aberration in 672 patients,MDS, According to WHO 2008, RA in 6 cases, RARS in 2 cases, RCMD in 9 cases, RAEB-1 in 10 cases, RAEB-2 in 13 cases,MDS-U in 1 case, and der(1), dup(1),-1 were most frequent in the chromosome karyotype. 1q trisomy was found in 18/41(43.9%) cases, and the most common patterns were duplication of the long arm as well as unbalanced translocation with other chromosomes. Among 41 patients with chromosomal 1 abnormality,32 cases were accompanied with other chromosomal aberration, usually involving 3 or more abnormal chromosomal karyotypes, among which chromosome 8,7 abnormalities were most common. Most of the patients with onset of symptoms is dizziness or anaemic, hemogram as two or more cytopenias, marrow as two or more department ineffective hematopoiesis or marrow blast> 5%. According to IPSS-R scoring system,19 patients were diagnosed with very high risk MDS,10 patients with high risk MDS,10 patients with intermediate risk MDS and 2 patients with low risk MDS.9 patients transformed into acute leukemia with median transforming time of 7.18 months. Median survival time of 36 newly diagnosed cases after 2010 was 17.48 months. There are significant differences on median survival time between RAEB group and non-RAEB group, and between group with more than 3 chromosome abnormalities and group with less than 3. For patients whose percentage of bone marrow blasts is less than 5%, the prognosis of patients with 1q trisomy was better than those without lq trisomy. Bone marrow blasts>5% is indentified as an independent risk factor for the prognosis of myelodysplastic syndrome with chromosome 1 abnormality.Conclusion:Chromosome 1 aberration was not rare in myelodysplastic syndrome, 1q trisomy was the most common abnormal karyotype in China, and was often accompanied with other chromosomal abnormalities. The prognosis of myelodysplastic syndrome patients with chromosome 1 abnormality was poor, especially worse in those diagnosed with RAEB-1,RAEB-2 and with more than 3 chromosome abnormality. For patients whose percentage of bone marrow blasts is less than 5%, the prognosis of patients with 1q trisomy was better than those without 1q trisomy.