摘要目的 探讨1例伴t(8;21)和t(9;22)的慢性髓系白血病(chronic myelogenous leukemia,CML)患者的实验室和临床特征.方法 对同时伴有t(8;21)和t(9;22)CML患者进行细胞遗传学、分子生物学、细胞形态学及流式细胞学的研究.结果 患者的染色体核型为t(8;21)和t(9;22),BCR/ABL及AML1/ETO的荧光原位杂交检测结果均阳性;融合基因BCR/ABL210及AML1/ETO为阳性,形态学考虑为CML慢性期,流式细胞学检测未发现明显异常.结论 同时伴有t(8;21)和t(9;22)的CML极为罕见.遗传学改变早于形态学、流式细胞学及临床表现,并可能加速疾病进程.

abstractsObjective To delineate laboratory and clinical characteristics of a case with chronic myelogenous leukemia (CML) and co-occurrence of t(9;22) (q34;q11) and t(8;21) (q22;q22).Methods The patient was subjected to cytogenetic,molecular,morphological and immunophenotypic analyses.Results Cytogenetic analysis revealed presence of t(8;21)(q22;q22) in addition to t(9;22)(q34;q11) in the patient.Chimeric BCR/ABL and AML1/ETO genes were detected by fluorescence in situ hybridization (FISH).Transcripts of BCR/ABL210 and AML1/ETO fusion genes were detected by relative quantity PCR.Morphological study suggested that the patient was at the chronic phase of CML.No significant immunophenotypic abnormality was detected by flow cytometry.Conclusion Co-occurrence of t (8;21)(q22;q22) and t(9;22) (q34;q11) is rare in CML.Only 5 similar cases have been described previously.This case suggested that chromosomal alterations may precede morphological,flow cytometric and clinical changes and accelerate progression of the disease.