Erlecke Jörn, Hartmann Isabell, Hoffmann Martin, Kroll Torsten, Starke Heike, Heller Anita, Gloria Alexander, Sayer Herbert G, Johannes Tilman, Claussen Uwe, Liehr Thomas, Loncarevic Ivan F
Jena University Hospital, Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07743 Jena, Germany.
Mol Cytogenet. 2009 May 29;2:12. doi: 10.1186/1755-8166-2-12.
A new chimerism analysis based on automated interphase fluorescence in situ hybridization (FISH) evaluation was established to detect residual cells after allogene sex-mismatched bone marrow or blood stem-cell transplantation.Cells of 58 patients were characterized as disease-associated due to presence of a bcr/abl-gene-fusion or a trisomy 8 and/or a simultaneous hybridization of gonosome-specific centromeric probes. The automatic slide scanning platform Metafer with its module MetaCyte was used to analyse 3,000 cells per sample.
Overall 454 assays of 58 patients were analyzed. 13 of 58 patients showed residual recipient cells at one stage of more than 4% and 12 of 58 showed residual recipient cells less than 4%, respectively. As to be expected, patients of the latter group were associated with a higher survival rate (48 vs. 34 month). In only two of seven patients with disease-marker positive residual cells between 0.1-1.3% a relapse was observed. Besides, disease-marker negative residual cells were found in two patients without relapse at a rate of 2.8% and 3.3%, respectively.
The definite origin and meaning of disease-marker negative residual cells is still unclear. Overall, with the presented automatic chimerism analysis of interphase FISH slides, a sensitive method for detection of disease-marker positive residual cells is on hand.
建立了一种基于自动间期荧光原位杂交（FISH）评估的新型嵌合分析方法，用于检测异基因性别不匹配的骨髓或血液干细胞移植后的残留细胞。58例患者的细胞因存在bcr/abl基因融合、三体8或性染色体特异性着丝粒探针的同时杂交而被鉴定为与疾病相关。使用带有MetaCyte模块的自动玻片扫描平台Metafer对每个样本的3000个细胞进行分析。
共分析了58例患者的454次检测。58例患者中，分别有13例在某一阶段显示残留受者细胞超过4%，12例显示残留受者细胞少于4%。正如预期的那样，后一组患者的生存率更高（48个月对34个月）。在7例疾病标志物阳性残留细胞在0.1%-1.3%之间的患者中，仅2例观察到复发。此外，在2例未复发的患者中发现了疾病标志物阴性残留细胞，比例分别为2.8%和3.3%。
疾病标志物阴性残留细胞的确切来源和意义仍不清楚。总体而言，通过本文介绍的间期FISH玻片自动嵌合分析，有了一种检测疾病标志物阳性残留细胞的灵敏方法。
