造血干细胞移植后白血病细胞遗传学和融合基因表达临床意义

目的 探讨造血干细胞移植后白血病细胞遗传学改变和基因表达的情况。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性白血病患者allo-PBSCT后，染色体检测持续46，XX。最长生存已50个月。4例慢性髓细胞性白血病经allo-PBSCT。后，Ph染色体阳性和bcr／abl融合基因阳性1例，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，最长生存已27个月。Ph染色体阴性bcr／abl融合基因阴性1例，已生存14个月。2例急性髓细胞性白血病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，并指导后续治疗方法的选择。

Significance of leukemia genetics and fusion gene expression after hematopoietic stem cell transplantation

Objective To explore the chromosome karyotype and gene expression of leukemia after hematopoietic stem cell transplantation.Methods Chromosome was studied with short term culture of bone marrow cells and direct Gimsa ; Bcr/abl fusion gene was detected by dual-color fluorescence in situ hybridization(D-FISH) technique.Results 2 male patients with acute myelocytic leukemia(AML) had continued 46,XX chromosome translocation after allo-PBSCT and their donors were female,who survived for maximum of 50 months.In 4 cases of chronic myelocytic leukemia(CML) after allo-PBSCT,one case had chromosome Ph positive and positive bcr/abl fusion gene,whose donor were treated with infusion of lymphocyte plus interferon,survived for 70 months,two cases had chromosome Ph negative but positive bcr/abl fusion gene,who survived for maximum of 27 months and one case had negative chromosome Ph and bcr/abl fusion gene,who survived for 14 months.Two AML patients presented non-specific chromosome karyotype translocation,which completely relieved after chemotherapy after relapse,and survived for maximum of 81 months.Conclusion The short-term curative effect can be observed through detection of leukemia cell genetics after hematopoietic stem cell transplantation,which may instruct the choice of next treatment protocol.