伴t(8;21)(q22;q22)和t(9;22)(q34;q11)的慢性粒细胞白血病一例  

Co-occurrence of t(8;21)(q22;q22) and t(9;22)(q34;q11) in a case with chronic myelogenous leukemia

作　　者：贡金英 李建强 盖伊 田欣 冯小芳 蔺亚妮 刘恩彬 汝昆 Gong Jinying;Li Jianqiang;Gai Yi;Tian Xin;Feng Xiaofang;Lin Yani;Liu Enbin;Ru Kun(Department of Pathology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Tianjin 300020, China;Sino-US Diagnostics Co., Ltd., Tianjin 301600, China;Department of Hematology, Weihai Central Hospital, Weihai, Shandong 301600, China)

机构地区：[1]中国医学科学院、北京协和医学院血液学研究所、血液病医院病理中心,天津300020 [2]天津协和华美医学技术诊断有限公司,301600 [3]山东省威海市中心医院血液科,264200

出　　处：《中华医学遗传学杂志》2019年第3期253-256,共4页Chinese Journal of Medical Genetics

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。Objective 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.

关 键 词：慢性粒细胞白血病 t(9 22) t(8 21) BCR/ABL基因 AML1/ETO基因 急性髓系白血病 

分 类 号：R733.72[医药卫生—肿瘤]