异基因造血干细胞移植治疗慢性髓细胞性白血病监测染色体核型及融合基因表达

发布时间：2018-08-25 19:14

【摘要】：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。
[Abstract]:Background: cytogenetics and genetic markers were negative in 70% of chronic myeloid leukemia patients 1-5 months after allogeneic hematopoietic stem cell transplantation, but repeated changes in individual cases within 1-3 months after transplantation. The negative rate of transplantation in 3-12 months was 89. 5%. Objective: to investigate the prognostic significance of allogeneic hematopoietic stem cell transplantation (HSCT) in patients with chronic myeloid leukemia (CML). Methods: 17 patients with chronic myeloid leukemia were treated by allogeneic hematopoietic stem cell transplantation. The chromosome of 17 patients with chronic myeloid leukemia were analyzed by short-term culture of bone marrow cells and direct G-banding analysis 30 days after transplantation and 72 months after transplantation. Two color fluorescence in situ hybridization was used to detect the bcr/abl gene of primary bone marrow cells by bcr/abl fusion gene and RQ-PCR. Results and conclusion among 17 cases, 8 cases were male / male donor allogeneic hematopoietic stem cell transplantation. 7 cases were male / female donor allogeneic hematopoietic stem cell transplantation (sibling). Chromosome karyotype was 46XX (female). There was no Y chromosome and other aberrant chromosome karyotypes: one female / female donor allogeneic hematopoietic stem cell transplantation (sister), one female / unrelated male donor allogeneic hematopoietic stem cell transplantation, The chromosome karyotype 46XY was positive at one month after transplantation, but bcr/abl was positive. After 4 months, the expression of 46XYY bcr-ABL was negative. It was observed for more than 96 months. One male / male donor (allogeneic hematopoietic stem cell) had sustained positive expression of bcr/abl gene on Ph chromosome in 1-12 months after transplantation. Donor lymphocyte infusion was performed, and the expression of chromosome bcr/abl was negative after 48 months of transplantation, which was a continuous remission. The results showed that after allogeneic hematopoietic stem cell transplantation (HSCT) in patients with chronic myeloid leukemia (CML), the monitoring of chromosome karyotype bcr-abl fusion gene had important reference value for the selection of subsequent treatment and the judgement of prognosis.
【作者单位】：云南省第一人民医院血液内科;
【基金】：云南省自然科学基金云南省人民医院科研基金资助项目(2000C030Q,2003YK011)~~
【分类号】：R457.7;R733.72

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