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背景:有报告显示,70%的慢性髓细胞性白血病患者异基因造血干细胞移植后1-5个月的细胞遗传学和基因标志检测阴性,但个别病例移植后1-3个月内反复变化,移植3-12个月的阴性率可达89.5%。目的:监测异基因造血干细胞移植治疗慢性髓细胞性白血病后的细胞分子遗传学标志变化,探讨其预后意义。方法:纳入异基因造血干细胞移植治疗慢性髓细胞性白血病患者17例,移植后30 d及2,3,4,6,12,24,36,48,60,72个月,采用骨髓细胞短期培养法和直接法G显带分析患者染色体,双色荧光原位杂交检测bcr/abl融合基因,RQ-PCR检测骨髓原代细胞的bcr/abl基因。结果与结论:17例患者中,8例为男患/男供者异基因造血干细胞移植,7例为男患/女供者异基因造血干细胞移植(同胞姐妹),移植后多次复查染色体核型为46XX(女性核型),未见Y染色体及其他畸变染色体核型;1例为女患/女供者异基因造血干细胞移植(其姐妹);1例为女患/无亲缘男供异基因造血干细胞移植,移植后1个月时染色体核型46XY,但bcr/abl阳性,4个月后持续表达46XY,bcr/abl阴性,观察超过96个月,为持续缓解,说明疗效良好;其中1男患/男供(全相合同胞弟)异基因造血干细胞移植后,1-12个月Ph染色体bcr/abl基因持续阳性表达,施行供者淋巴细胞输注,48个月后染色体bcr/abl转阴性表达,为持续缓解。结果表明,慢性髓细胞性白血病患者实施异基因造血干细胞移植后,染色体核型、bcr/abl融合基因监测对后续治疗选择、预后判断有重要参考价值。
Background: It has been reported in 70% of patients with chronic myelogenous leukemia that allogeneic hematopoietic stem cell transplantation 1-5 months after the cytogenetics and gene signature test negative, but individual cases repeated changes within 1-3 months after transplantation, The negative rate of 3-12 months after transplantation was 89.5%. OBJECTIVE: To monitor the changes of cell molecular genetic markers after allogeneic hematopoietic stem cell transplantation for chronic myelogenous leukemia, and to explore the prognostic significance. Methods: Seventeen patients with chronic myelogenous leukemia were enrolled in allogeneic hematopoietic stem cell transplantation. After 30 days and 2, 3, 4, 6, 12, 24, 36, 48, 60 and 72 months after transplantation, The bcr / abl fusion gene was detected by two-color fluorescence in situ hybridization and the bcr / abl gene was detected by RQ-PCR. RESULTS AND CONCLUSION: Among the 17 patients, 8 were allogeneic hematopoietic stem cell transplantation for male / male donors, 7 were allogeneic hematopoietic stem cell transplantation (sibling) for male / female donors, and were repeatedly examined for chromosomal nuclei Type 46XX (female karyotype), no Y chromosome and other aberrant chromosomal karyotypes; 1 case of allogeneic hematopoietic stem cell transplantation (their sister) for female / donor donors; 1 case of female patient / unrelated male donor Gene hematopoietic stem cell transplantation, one month after transplantation chromosome karyotype 46XY, but bcr / abl positive, 4 months after the continued expression of 46XY, bcr / abl negative, observed over 96 months for sustained remission, indicating good effect; of which 1 male / male donor (full-fledged sibling) allogeneic hematopoietic stem cell transplantation, 1-12 months Ph chromosome bcr / abl gene expression was sustained, the donor lymphocyte transfusion, 48 months after the chromosome bcr / abl Negative expression, for sustained remission. The results showed that the detection of chromosomal karyotype and bcr / abl fusion gene in patients with chronic myeloid leukemia after allogeneic hematopoietic stem cell transplantation have important reference value for the follow-up treatment selection and prognosis.