Akel S, Kolialexi A, Mavrou A, Metaxotou C, Loukopoulos D, Yataganas X
First Department of Medicine, University of Athens School of Medicine, Athens, Greece.
Clin Lab Haematol. 2002 Dec;24(6):361-7. doi: 10.1046/j.1365-2257.2002.00470.x.
Conventional cytogenetic analysis (CCA) is the standard method for monitoring of the Philadelphia (Ph) chromosome in chronic myeloid leukemia (CML). Evaluation of breakpoint cluster region/abelson murine leukemia (BCR/ABL) fusion using interphase fluorescence in situ hybridization on peripheral blood smears (PB-FISH) might be another approach allowing more frequent and less invasive follow-up investigations. Herein, BCR/ABL fusion gene was assessed on 21 PB smears from 16 CML patients in chronic phase. Results of PB-FISH were compared with those of CCA and interphase FISH on bone marrow aspirates (BM-FISH). PB-FISH analysis was combined with CD3 immunophenotyping that allowed simultaneous investigation of the leukemic status of CD3(+) T lymphocytes and scoring CD3(-) cells for BCR/ABL fusion gene. Moreover, the frequency of BCR/ABL fusion in nonlymphoid PB cells was estimated according to the differential leukocyte counts. The incidence of BCR/ABL(+) fusion signals in CD3(+) T cells of CML patients was 5.3% (SD +/- 1.9) and did not exceed the normal cut-off value of 8%. A significant correlation (P < 0.001) was found between results of PB-FISH and methods of BM analysis (CCA or BM-FISH). Correction of PB-FISH results to include only nonlymphoid or CD3(-) cells reduced the mean of differences and improved agreement between PB-FISH and CCA or BM-FISH methods. The best agreement was noted between CCA and PB-FISH on nonlymphoid cells. On the other hand, results of BM-FISH agreed well with those of PB-FISH on CD3(-) cells. These findings imply that PB-FISH on nonlymphoid or CD3(-) cells is reliable and may replace BM analysis for monitoring of response to treatment in CML patients.
传统细胞遗传学分析(CCA)是监测慢性髓性白血病(CML)中费城(Ph)染色体的标准方法。使用外周血涂片间期荧光原位杂交(PB-FISH)评估断裂点簇集区/阿贝尔逊鼠白血病病毒(BCR/ABL)融合可能是另一种方法,可实现更频繁且侵入性更小的随访研究。在此,对16例慢性期CML患者的21份外周血涂片进行了BCR/ABL融合基因评估。将PB-FISH结果与CCA以及骨髓穿刺间期荧光原位杂交(BM-FISH)结果进行了比较。PB-FISH分析与CD3免疫表型分析相结合,从而能够同时研究CD3(+) T淋巴细胞的白血病状态,并对CD3(-)细胞进行BCR/ABL融合基因评分。此外,根据白细胞分类计数估算非淋巴细胞外周血细胞中BCR/ABL融合的频率。CML患者CD3(+) T细胞中BCR/ABL(+)融合信号的发生率为5.3%(标准差±1.9),未超过正常临界值8%。发现PB-FISH结果与骨髓分析方法(CCA或BM-FISH)之间存在显著相关性(P < 0.001)。将PB-FISH结果校正为仅包括非淋巴细胞或CD3(-)细胞,可降低差异均值,并改善PB-FISH与CCA或BM-FISH方法之间的一致性。在非淋巴细胞上,CCA与PB-FISH之间的一致性最佳。另一方面,BM-FISH结果与CD3(-)细胞上的PB-FISH结果吻合良好。这些发现表明,对非淋巴细胞或CD3(-)细胞进行PB-FISH是可靠的,并且可以替代骨髓分析来监测CML患者的治疗反应。