伴1号染色体异常骨髓增生异常综合征临床及细胞遗传学研究

OBJECTIVE: To explore the incidence of chromosome 1 abnormality in myelodysplastic syndrome (MDS) to couple its association with clinical presentation and prognosis. METHODS: R-band karyotype analyses were performed in 672 cases of MDS between 2010 and 2013. Clinical data of those with abnormal chromosome l were collected and then analyzed factors affecting the prognosis. RESULTS: Of 672 cases of patients with MDS, chromosome 1 aberration [der (1), dup (1), −1 were most frequent] were found in 41 (6.1%) cases. 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. Of 41 patients with chromosomal 1 abnormality, 32 cases were accompanied with other chromosomal aberration, usually involving 3 or more abnormal chromosomal karyotypes, e.g., chromosome 8, 7 abnormalities. According to IPSS-R scoring system, 19 patients were diagnosed with very high risk, 10 patients high risk, 10 patients intermediate risk and 2 patients low risk MDS. 9 patients transformed into acute leukemia with median transforming time of 7.18(0.56–54.28) months. Median survival of 36 cases after 2010 was 17.48(95% CI 14.38–20.58) months. There were significant differences on median survival between RAEB and non-RAEB groups (χ(2)=10.398, P=0.001), and between with more than 3 chromosome abnormalities and with less than 3 groups (χ(2)=3.939, P=0.047). RAEB was identified as an independent risk factor for the prognosis of MDS with chromosome 1 abnormality. CONCLUSION: Chromosome 1 aberration was not rare in MDS. 1q trisomy was the most common abnormal karyotype in China, which often accompanied with other chromosomal abnormalities. The prognosis of MDS 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 less than 5%, the prognosis of patients with 1q trisomy was better than those without 1q trisomy. RAEB was identified as an independent risk factor for the prognosis of MDS with chromosome 1 abnormality.