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

Clinical and cytogenetic study of chromosome 1 abnormality in myelodysplastic syndrome

目的：观察1号染色体异常在骨髓增生异常综合征（MDS）中的发生率，并分析其临床及细胞遗传学特征。方法回顾性分析2010年至2013年672例MDS患者临床资料，研究伴l号染色体异常的发生率及其临床、细胞遗传学特征，分析影响预后的因素。结果672例MDS患者中伴1号染色体异常41例（6.1%），其中难治性贫血（RA）6例、难治性贫血伴有环状铁粒幼红细胞（RARS）2例、难治性血细胞减少伴有多系发育异常（RCMD）9例、难治性贫血伴有原始细胞过多（RAEB）-110例、RAEB-213例、MDS不能分类（MDS-U）1例。1号染色体异常以der（1）、dup（1）、－1多见，1q三体18例（43.9%），以1q片段重复和1q与其他染色体发生不平衡易位多见。32例合并有其他染色体异常，多涉及3个及以上异常核型。9例转变为急性白血病（转白），中位转白时间为7.18（0.56～54.28）个月；36例患者纳入生存分析，中位生存时间为17.48（95%CI 14.38～20.58）个月。RAEB组（RAEB-1、RAEB-2）、染色体异常＞3种组中位生存时间分别短于非RAEB组（RA、RARS、RCMD、MDS-U）、染色体异常≤3种组（χ2=10.398，P=0.001；χ2=3.939，P=0.047）。RAEB是影响1号染色体异常MDS患者预后的独立危险因素。结论1号染色体异常在MDS中并不罕见，以1q三体最为常见，且常伴其他异常核型。伴1号染色体异常MDS患者总体预后较差，RAEB是伴1号染色体异常MDS患者独立预后因素。

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（χ2=10.398, P=0.001）, and between with more than 3 chromosome abnormalities and with less than 3 groups（χ2=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.