Han Eunhee, Lee Hyeyoung, Kim Myungshin, Kim Yonggoo, Han Kyungja, Lee Sung-Eun, Kim Hee-Je, Kim Dong-Wook
Department of Laboratory Medicine, Catholic Blood and Marrow Transplantation Center, The Catholic University of Korea, Seoul, Korea.
Department of Hematology, Department of Internal Medicine, Catholic Blood and Marrow Transplantation Center, The Catholic University of Korea, Seoul, Korea.
Blood Res. 2014 Mar;49(1):22-8. doi: 10.5045/br.2014.49.1.22. Epub 2014 Mar 24.
The coexistence of t(9;22)(q34;q11.2) and inv(16)(p13q22) chromosomal abnormalities is extremely uncommon, and only a small number of such cases have been reported. Here, we characterized 7 cases of hematologic malignancy exhibiting t(9;22) and inv(16) coexistence.
We reviewed the cytogenetic data for hematologic malignancies treated at the Catholic Blood and Marrow Transplantation Center between January 2004 and June 2013. We identified 7 cases exhibiting t(9;22) and inv(16) coexistence. In addition, we analyzed mutations in the IKZF1, NPM1, FLT3, N-RAS, K-RAS, c-KIT, and TP53 genes.
Four cases of chronic myelogenous leukemia (CML; 1 chronic phase, 2 accelerated phase, and 1 blast phase) and 3 cases of acute myeloid leukemia (AML; 1 de novo and 2 therapy-related) were identified. The percentages of circulating blasts and bone marrow eosinophils were higher in AML cases than in CML cases (53% vs. 5% and 30% vs. 5.5%, respectively). The proportions of each chromosomal abnormality were used along with follow-up karyotyping results to identify secondary changes. In BCR/ABL, a p210 fusion transcript was associated with CML, whereas a p190 fusion transcript was associated with AML. One patient with AML harbored 2 mutations: c-KIT D816V and TP53 E11Q. All patients except 1 with CML blast phase sustained clinical remission after treatment, which included an imatinib mesylate regimen.
This study shows that observations of bone marrow morphology, initial and follow-up cytogenetic studies, and karyotyping of BCR/ABL1 and CBFB/MYH11 provide valuable information for characterizing hematologic malignancies exhibiting t(9;22) and inv(16) coexistence.
t(9;22)(q34;q11.2)和inv(16)(p13q22)染色体异常共存极为罕见，仅有少数此类病例被报道。在此，我们对7例呈现t(9;22)和inv(16)共存的血液系统恶性肿瘤病例进行了特征分析。
我们回顾了2004年1月至2013年6月在天主教血液和骨髓移植中心接受治疗的血液系统恶性肿瘤的细胞遗传学数据。我们识别出7例呈现t(9;22)和inv(16)共存的病例。此外，我们分析了IKZF1、NPM1、FLT3、N-RAS、K-RAS、c-KIT和TP53基因的突变情况。
识别出4例慢性髓性白血病（CML；1例慢性期、2例加速期和1例急变期）和3例急性髓系白血病（AML；1例初发和2例治疗相关）。AML病例中循环原始细胞和骨髓嗜酸性粒细胞的百分比高于CML病例（分别为53%对5%和30%对5.5%）。利用每种染色体异常的比例以及后续核型分析结果来识别继发性改变。在BCR/ABL中，p210融合转录本与CML相关，而p190融合转录本与AML相关。1例AML患者存在2种突变：c-KIT D816V和TP53 E11Q。除1例CML急变期患者外，所有患者经包括甲磺酸伊马替尼方案在内的治疗后均持续临床缓解。
本研究表明，骨髓形态学观察、初始和后续细胞遗传学研究以及BCR/ABL1和CBFB/MYH11的核型分析为表征呈现t(9;22)和inv(16)共存的血液系统恶性肿瘤提供了有价值的信息。
