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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)(qlO)、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-Hüet 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-Hüet 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。
Objective To investigate the clinical and laboratory features of patients with myelodysplastic syndrome (MDS) with chromosomal abnormalities. Methods A total of 584 patients with MDS who could analyze cytogenetics were retrospectively analyzed according to the WHO standard. The clinical and laboratory features of these patients were analyzed retrospectively. Results The incidence of chromosomal abnormalities in MDS patients was 7.4%. Common chromosomal structural abnormalities were i (17) (qlO), t (1; 3) (p36; q21), der (22), the other 13 patients with chromosomal abnormalities so far no literature. i (17) (q10) patients with moderate to severe anemia, bone marrow easy to see granulocyte translocation, less particles, fake Pelger-Hüet abnormalities and lymphoid megakaryocytes, mostly simple karyotype, the prognosis is poor. Patients with t (1; 3) (p36; q21) exhibited major cell anemia. Mature granulomatous disorders were observed in the bone marrow, with a high percentage of monocytes and hyperplasia of megakaryocytes. MEL1 gene expression was predominant or only MEL1 was expressed. Der (1; 7) (q10; p10) patients with infection more than the onset of large cells or anaplastic anemia, bone marrow morbid hematopoietic disease with a short median survival. Der (22) patients showed anemia, platelets are not low, the granulocyte granuloma less visible particles, abnormal Pelger-Hüet and mononuclear, nucleated dual nucleated cells, with the involvement of 22q11 translocation. Conclusion MDS with i (17) (q10), t (1; 3) (p36; q21) and der (1; 7) (q10; p10) may be independent clinical pathological genetic diseases and der Still to be more confirmed further cases.