伴复杂核型异常的髓系恶性血液病8号染色体异常分析

Analysis of Chromosome-8 Aberrations in Myeloid Malignancies with Complex Chromosome Abnormalities

为研究伴复杂核型异常(complex chromosome abnormalities,CCA)的髓系恶性血液病的8号染色体异常,采用常规染色体分析和多重荧光原位杂交技术检测81例伴CCA的髓系恶性血液病患者的染色体异常,其中急性髓系白血病(AML)25例、慢性髓系白血病(CML)35例和骨髓增生异常综合征(MDS)21例。结果表明:81例标本中CCA涉及所有染色体,而8号染色体异常发生率为35.8%(29/81),其中AML为56%(14/25)、CML为28.6%(10/35)、MDS为23.8%(5/21),CML加速期、急变期发生率分别为20%(1/5)、33.3%(9/27)。29例伴8号染色体异常的髓系恶性血液病中有15例为非平衡易位,占51.7%。结论:8号染色体异常是伴CCA的髓系恶性血液病中常见的染色体异常,可能与疾病进展相关,多为不平衡性易位。

To investigate the chromosome-8 aberrations in myeloid malignancies with complex chromosome abnormalities （CCAs）, 81 cases of myeloid malignancies with CCAs were analysed by conventional chromosome analysis and multiplex fluorescence in situ hybridization. The 81 cases included 25 cases of acute myeloid leukemia （ AML ）, 35 cases of chronic myeloid leukemia （CML） and 21 cases of myelodysplastic syndrome （ MDS ）. The results showed that all chromosomes were involved in CCAs, and the incidence of chromosome-8 abnormalitiy was 35.8 % （29 out of 81 cases） in myeloid malignancies with CCAs, which in AML, CML and MDS patients were 56% （14/25）, 28.6% （ 10/35 ） and 23.81% （ 5/21 ）, respectively. In CML, the incidences of accelerated phase and blast phase were 20% （1/5） and 33.3% （9/27）, respectively. The most common aberrations involving chromosome 8 were unbalanced translocations （ 19 out of 29 cases, 51.7% ）. In conclusion, aberrations of chromosome 8 were common in myeloid malignancies with CCAs, and may be related to progression of the disease. The most common aberrations were unbalanced translocations.