中文摘要：

目的研究伴染色体结构异常的骨髓增生异常综合征（MDS）患者的临床和实验室特点。方法584例有可分析细胞遗传学资料的MDS患者，对其中有染色体结构异常患者按WHO标准重新进行诊断分型，对这些患者的临床和实验室特点进行回顾性分析。结果MDS患者染色体结构异常发生率为7．4％，常见染色体结构异常有i（17）（q10）、t（1；3）（p36；q21）、der（1；7）（q10；p10）和der（22），另13例患者的染色体结构异常迄今尚无文献报道。i（17）（q10）患者表现中、重度贫血，骨髓易见粒系核左移，少颗粒，假Pelger—Hiiet异常及淋巴样小巨核，多为单纯核型异常，预后差。t（1；3）（p36；q21）患者表现大细胞性贫血，骨髓可见粒系成熟障碍，单核细胞比例高，巨核系病态增生，以MEL1基因表达为主或仅表达MEL1。der（1；7）（q10；p10）患者多以感染起病，大细胞或正细胞性贫血，骨髓三系病态造血，中位生存期短。der（22）患者表现贫血，血小板不低，骨髓可见粒系少颗粒，假Pelger-Hiiet异常及单元核、双元核巨核细胞，伴累及22q11的易位。结论伴i（17）（q10）、t（1；3）（p36；q21）和der（1；7）（q10；p10）的MDS可能为独立的临床病理遗传学病种，而der（22）尚有待更多的病例进一步证实。

英文摘要：

Objective To study the clinical and laboratory features of myelodysplastic syndromes （MDS） with chromosomal structural changes. Methods Among 584 MDS cases with cytogenetic data, 50 patients with chromosomal structural changes, 34 males and 16 females, aged 50. 5 （9 - 77 ） , were reclassified according to the WHO criteria, and their clinical and laboratory features were analyzed retrospectively. Results The incidence of chromosomal structural changes in the MDS patients was 7.4%. i（17） （q10）,t（1;3） （p36;q21）,der（1;7） （q10;p10）, and der（22） occurred frequently. The chromosomal structural changes in 13 cases were reported in the literatures for the first time. The patients with i （17） （q10） were characterized by moderate to severe anemia and a poor prognosis. Predominant dysgranulocytopoiesis and dysmegakaryocytopoiesis, including a nuclear shift to the left, pseudo-Pelger-Hüet anomaly, hypogranularity, and increased micromegakaryocytes. The patients with t （1; 3 ） （p36; q21 ） revealed macrocytic anemia, obvious dysmegakaryocytopoiesis, and dysgranulocytopoiesis, accompanied by defective differentiation and monocytosis. The bone marrow cells from the MDS patients with t （ 1 ; 3 ） （p36; q21） mainly or only expressed MEL1. The initial symptom of the patients with der （1; 7） （q10; p10） was infection. These patients showed macrocytic or normocytic anemia. Trilineage dysplasia was found in the bone marrow smears. The patients had short median survival. The patients with der （22） revealed anemia, and normal or elevated platelet counts. Hypogranularity and pseudo-Pelger-Hüet anomaly were present in all cases with der （22）. The megakaryocytes were small and generally contained one or two nuclei. A translocation involvement of 22q11 was frequently found in the patients with der（22）. Conclusion MDS patients with i （17） （ q10 ）, t （ 1 ; 3 ） （ p36 ; q21 ）, and der （ 1 ; 7 ） （ q10 ; p10 ） may be a new unique clinical-pathol