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目的:探讨孤立性染色体异常i(17q)在血液肿瘤中表达的意义。方法:对172例血液肿瘤患者的骨髓细胞进行常规核型分析,对伴有i(17q)染色体异常者采用荧光原位杂交及RT-PCR技术检测RARα基因重排,流式细胞术检测骨髓细胞免疫表型,并分析患者临床特点。结果:172例患者中,12例出现染色体异常i(17q),其中9例伴有其他染色体异常,3例为孤立性i(17q)。3例孤立性i(17q)患者中,1例为急性髓系白血病,1例为骨髓增生异常综合征,1例为慢性粒单核细胞白血病,均无RARα基因重排,且对常规化疗效果差,生存期分别为45d、4个月和2个月。结论:孤立性i(17q)染色体异常在血液肿瘤中非常少见,主要见于髓系肿瘤,预后可能较差。
Objective: To investigate the significance of isolated chromosome abnormalities i (17q) expression in hematological tumors. Methods: Bone marrow cells from 172 patients with hematologic malignancies were subjected to routine karyotyping. RARα gene rearrangements were detected by fluorescence in situ hybridization and RT-PCR in patients with i (17q) chromosomal abnormalities. Flow cytometry was used to detect bone marrow cells Immunophenotype, and analyze the clinical features of patients. Results: Of the 172 patients, 12 had chromosomal abnormalities i (17q), 9 with other chromosomal abnormalities and 3 with isolated i (17q). Of the 3 isolated i (17q) patients, 1 was acute myeloid leukemia, 1 was myelodysplastic syndrome and 1 was chronic myelomonocytic leukemia. No RARα gene rearrangement was observed and the effect of conventional chemotherapy Poor, the survival period was 45d, 4 months and 2 months. CONCLUSIONS: Solitary i (17q) chromosomal abnormalities are rare in hematologic tumors, mainly in myeloid neoplasms, and the prognosis may be poor.