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. ru
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Mar 10;36(3):253-256. doi: 10.3760/cma.j.issn.1003-9406.2019.03.015.
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).
The patient was subjected to cytogenetic, molecular, morphological and immunophenotypic analyses.
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.
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.
描述一例慢性粒细胞白血病（CML）合并t(9;22)(q34;q11)和t(8;21)(q22;q22)患者的实验室及临床特征。
对该患者进行细胞遗传学、分子、形态学及免疫表型分析。
细胞遗传学分析显示该患者除存在t(9;22)(q34;q11)外，还存在t(8;21)(q22;q22)。通过荧光原位杂交（FISH）检测到嵌合型BCR/ABL和AML1/ETO基因。通过相对定量PCR检测到BCR/ABL210和AML1/ETO融合基因的转录本。形态学研究提示该患者处于CML慢性期。流式细胞术未检测到明显的免疫表型异常。
CML中t(8;21)(q22;q22)和t(9;22)(q34;q11)同时出现的情况罕见。此前仅描述过5例类似病例。该病例提示染色体改变可能先于形态学、流式细胞术及临床改变，并加速疾病进展。
