【摘要】 目的 观察慢性粒细胞性白血病（chronic myelogenous leukemia， CML）急变（blast crisis，BC）患者罕见染色体异常的临床及实验室特点。 方法 2010年2月1例患者因咳嗽和高热来我院就诊，采用常规方法检查患者骨髓细胞，应用R显带技术和荧光原位杂交技术分析骨髓细胞核型。 结果 患者具有CML-BC的典型临床及实验室特点，同时核型出现不典型t（1；9；22）合并亚二倍体罕见核型异常，临床表现病情进展快，对伊马替尼疗效差，生存期短。 结论 慢性粒细胞性白血病患者在急变期出现伴不典型Ph染色体的亚二倍体复杂核型为高危核型，此类患者可能存在对伊马替尼的耐药，如能取得血液学缓解应尽早接受异基因骨髓造血干细胞移植，争取获得长期疗效。
【Abstract】 Objective To report a case of chronic myelogenous leukemia (CML) blastic transformation into acute myelogenous leukemia with rare atypical hypodiploid t(1;9;22) complex chromosome abnormalities, and to analyze its clinical and laboratory characteristics. Methods A 47-year-old man was referred to our hospital due to cough and high fever in February 2010. We collected and analyzed the patient’s clinical materials, and performed chromosomal karyotype analysis with R-banding and fluorescence in situ hybridization (FISH). Results The patient demonstrated typical clinical and laboratory characteristics of blastic crisis of chronic myelogenous leukemia (CML-BC) and displayed rare atypical hypodiploid t(1;9;22) complex chromosome abnormalities. Meanwhile, the disease was rapidly progressive, with poor response to imatinib and had short overall survival. Conclusions CML-BC patients with hypodiploidy complex chromosome abnormalities are in high risk. They may show drug-resistance to imatinib. Thus, for this type of patients, once the hematological remission is achieved, allogeneic stem cell transplant should be performed as soon as possible to get better opportunity for long-term survival.
Citation：
ZHOU Jian,GUO Haiying,CHEN Rong,ZHENG Lin,WANG Xiaoyu. Clinical and Laboratory Study of a Case of Chronic Myelogenous Leukemia Blastic Transformation with Rare Hypodiploid t(1;9;22). West China Medical Journal, 2011, 26(9): 1290-1293. doi:
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- 1. 薛永权, 过宇. 介绍一种改良的骨髓细胞染色体热变形姬姆萨R显带法[J]. 中华医学检验杂志, 1986, 9(4): 247-248.
- 2. Shaffer L, Tommerup N. An international system for human cytogenetic nomenclature[M]. Basel: Karger Publishers, 2005: 1-130.
- 3. Swerdlow SH, Campo E, Harris NL, et al. WHO Classifi-cation of tumours of haematopoietic and lymphoid tissue[M]. Lyon: IARC, 2008: 1-439.
- 4. 朱红倩, 张嵩, 刘晓力. 慢性髓系白血病急变期分子遗传学研究进展[J]. 中国实验血液学杂志, 2008, 1 6(1): 217-221.
- 5. 姜道滋, 陈志妹, 楼基余, 等. 1193例慢性粒细胞白血病细胞及分子遗传学分析[J]. 中华血液杂志, 2007, 28(1): 1-5.
- 6. Pedersen B, Boesen AM. Extreme hypodiploidy in a case of myelomonocytic crisis of chronic myelogenous leukemia[J]. Cancer Genet Cytogenet, 1983, 9(2): 101-12.
- 7. Johansson B, Fioretos T, Mitelman F. Cytogenetic and molecular genetic evolution of chronic myeloid leukemia[J]. Acta Haematol, 2002, 107(2): 76-94.
- 8. Kantarjian HM, Cortes J, O’Brien S, et al. Imatinib mesylate (STI571) therapy for Philadelphia chromosome-positive chronic myelogenous leukemia in blast phase[J]. Blood, 2002, 99(10): 3547-3553.
- 9. Kantarjian HM, Talpaz M, O′Brien S, et al. Survival benefit with imatinib mesylate therapy in patients with accelerated-phase chronic myelogenous leukemia-comparison with historic experience[J]. Cancer, 2005, 103(10): 2099-2108.
- 10. Lahaye T, Riehm B, Berger U, et al. Response and resistance in 300 patients with BCR-ABL-positive leukemias treated with imatinib in a single center: a 4.5-year follow-up[J]. Cancer, 2005, 103(8): 1659-1669.
