Lai Yue-yun, Li Na, Feng Lin, Shi Yan, Dang Hui, He Qi, Wang Zheng, Wang Xiao-yan, Li Ye, Liu Qing, Huang Xiao-jun
Peking University People's Hospital, Peking University Institute of Hematology, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, China.
Peking University People's Hospital, Peking University Institute of Hematology, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, China; Peking-Tsinghua Center for Life Sciences, Beijing 100871, China. Email:
Zhonghua Yi Xue Za Zhi. 2013 Oct 29;93(40):3175-9.
To compare the results of fluorescence in situ hybridization (FISH) versus conventional cytogenetics (CC) in the detection of common chromosomal abnormalities and evaluate the significance of FISH in myelodysplastic syndrome (MDS) .
A total of 344 patients with de novo MDS from June 2008 to October 2012 were detected by 6 pairs of probes, including CSF1R/D5S23-D5S721 (5q33) , EGR1/ D5S23-D5S721 (5q31) , D7S486 (7q31) /CSP7, D7S522 (7q31) /CSP7, D20S108/CSP8 (20q12/CSP8) and CSPX/CSPY. The results were compared with those of CC.
CC revealed cytogenetic abnormalities in 168/344 cases (48.8%) and the frequency of common aberrations such as +8, 20q-, -7/7q-, -5/5q- and -Y were 18.9% (65/344) , 9.3% (32/344), 8.4% (29/344), 8.4% (29/344) and 2.4% (5/206) respectively. While FISH revealed chromosome abnormalities in 147/344 patients (42.7%) and the frequency of +8, 20q-, -7/7q-, -5/5q- and -Y were 20.9% (72/344), 11.6% (40/344), 11.6% (40/344), 10.2% (35/344) and 2.9% (6/206) respectively. Overall 187/344 patients (54.4%) carried clonal aberrations by a combination of CC and FISH. Among 158 patients with normal karyotype by CC, 14 cases (8.9%) were detected to have clonal aberrations by FISH. FISH also confirmed 4 carriers of clonal aberrations out of 9 patients with non clonal abnormalities by CC.
FISH is effective for improving the probability of detecting chromosome abnormalities in MDS cases with normal karyotypes and karyotype failure. FISH may provide rationales for clonal abnormalities in patients with non clonal aberrations by CC. A combination of FISH and CC shows complementary advantages.
比较荧光原位杂交（FISH）与传统细胞遗传学（CC）检测常见染色体异常的结果，并评估FISH在骨髓增生异常综合征（MDS）中的意义。
对2008年6月至2012年10月共344例初发MDS患者，采用6对探针进行检测，包括CSF1R/D5S23 - D5S721（5q33）、EGR1/D5S23 - D5S721（5q31）、D7S486（7q31）/CSP7、D7S522（7q31）/CSP7、D20S108/CSP8（20q12/CSP8）和CSPX/CSPY。将结果与CC检测结果进行比较。
CC检测出168/344例（48.8%）存在细胞遗传学异常，常见异常如 +8、20q -、 -7/7q -、 -5/5q - 和 -Y的频率分别为18.9%（65/344）、9.3%（32/344）、8.4%（29/344）、8.4%（29/344）和2.4%（5/206）。而FISH检测出147/344例（42.7%）存在染色体异常， +8、20q -、 -7/7q -、 -5/5q - 和 -Y的频率分别为20.9%（72/344）、11.6%（40/344）、11.6%（40/344）、10.2%（35/344）和2.9%（6/206）。总体而言，187/344例（54.4%）患者通过CC和FISH联合检测发现存在克隆性异常。在CC检测核型正常的158例患者中，FISH检测出14例（8.9%）存在克隆性异常。FISH还在CC检测无克隆性异常的9例患者中确认了4例克隆性异常携带者。
FISH可有效提高检测核型正常及核型分析失败的MDS病例中染色体异常的概率。FISH可为CC检测无克隆性异常的患者的克隆性异常提供依据。FISH与CC联合显示出互补优势。
