造血干细胞移植后白血病细胞染色体核型和bcr/abl融合基因表达观察

目的：探讨造血干细胞移植(HSCT)后白血病细胞染色体核型和基因表达观察的意义。方法：用骨髓细胞短期培养法和直接法G显带分析染色体；双色荧光原位杂交检测bcr／abl融合基因。结果：2例供者为女性的男性急性髓细胞白血病(AML)患者异体外周血干细胞移植(allo-PBSCT)后染色体检测持续46，XX。最长生存50个月。4例慢性髓细胞白血病(CML)经allo-PBSCT后，Ph染色体和bcr／abl融合基因阳性1例，经供者淋巴细胞输注加干扰素治疗，已生存70个月。Ph染色体阴性bcr／abl融合基因阳性2例，最长生存27个月。Ph染色体阳性bcr／abl融合基因阴性1例，已生存14个月。2例AML自体造血干细胞移植后检测出非特征性染色体畸变，复发后再化疗达完全缓解，最长生存期达81个月。结论：造血干细胞移植后白血病细胞遗传学检测可观察近期疗效，指导后续治疗选择。

Detection of chromosome karyotype and bcr/abl fusion gene after hematopoietic stem cell transplantation in leukemia

Objective:To explore the cytogenetic change after hematopoietic stem cell transplantation in patients with leukemia.Method:Chromosome karyotype of bone marrow cells was studied by short time culture and direct method of Giemsa banding metaphase, the status of bcr/abl fusion gene was studied by dual-color fluorescence in situ hybridization (D-FISH) technique.Result:Two male patients with female donors had 46, XX chromosome after allo-PBSCT, one had survived up to 50 months. In four CML patients after allo-PBSCT, one had Ph chromosome positive and bcr/abl fusion gene positive, and he had survived up to 70 months after donor lymphocyte infusion and interferon treatment. Two cases with Ph chromosome negative but bcr/abl fusion gene positive, and they had survived 2~27 months. One case with Ph chromosome and bcr/abl fusion gene negtive, and she had survived 14 months. Two AML patients had been found no-particular chromosome karyotype translocation, relapsed in 3~24 months after auto-HSCT. But reched complete reucission after chemotherapy. They had survived 81 months.Conclusion:Cytogenetic examination after hematopoietic stem cell transplantation in leukemia may be useful for observing short term effect of HSCT.