间期荧光原位杂交在慢性髓系白血病8三体检测中的意义

SIGNIFICANCE OF INTERPHASE FLUORESCENCEIN SITU HYBRIDIZATION ON THE DETECTION OF TRISOMY 8 IN CHRONIC MYELOID LEUKEMIA

目的探讨间期荧光原位杂交(I-FISH)技术检测慢性髓系白血病(CML)8号染色体三体(8三体)异常的价值及其对CML演进监测的意义。方法联合应用染色体G显带和I-FISH技术对22例(慢性期7例、加速期8例、急变期7例)CML患者8三体进行检测并比较。结果①染色体G显带检测发现8三体8例,疑似6例;I-FISH证实12例患者存在8三体。②综合两项检测结果,均为阳性7例;6例疑似患者中I-FISH证实3例阳性;1例核型无8三体的慢性期患者,I-FISH检测8三体阳性(8.0%);1例无分裂相加速期患者,I-FISH发现同时存在8三体(14.6%)和8四体(80.4%)。结论相比传统细胞遗传学技术,I-FISH检测CML8三体具有显著的优势,能为疾病演进的监测提供早期、敏感和准确的依据。

Objective To explore the value of interphase fluorescence in situ hybridization （I-FISH） on the detection of trisomy 8 in chronic myeloid leukemia （CML） and the progression of CML. Methods Chromosomal G-banding and I-FISH were used to detect trisomy 8 in 22 cases with CML including 7 at chronic phase, 8 accelerated phase and 7 at blast crisis, and the results were compared. Results ① 8 cases were found with trisomy 8 and 6 were uncertain by chromosomal G-banding; 12 cases were confirmed to have trisomy 8 by I-FISH. ② In general, 7 cases were confirmed positive both by chromosomal G-banding and I-FISH. 3 of 6 uncertain cases were positive by I-FISH. One case of chronic phase was negative by chromosomal G-banding but positive by I- FISH （8.0%）. One case without metaphase was found to have trisomy 8 （14.6 % ） and tetrasomy 8（80.4% ） by I-FISH. Conclusion Compared with conventional cytogenetics, I-FISH had very remarkable advantages in detecting trisomy 8 in CML, and it was useful for monitoring the progression of CIVIL.