【摘要】 目的 觀察慢性粒細胞性白血病(chronic myelogenous leukemia, CML)急變(blast crisis,BC)患者罕見染色體異常的臨床及實驗室特點。 方法 2010年2月1例患者因咳嗽和高熱來我院就診,采用常規方法檢查患者骨髓細胞,應用R顯帶技術和熒光原位雜交技術分析骨髓細胞核型。 結果 患者具有CML-BC的典型臨床及實驗室特點,同時核型出現不典型t(1;9;22)合并亞二倍體罕見核型異常,臨床表現病情進展快,對伊馬替尼療效差,生存期短。 結論 慢性粒細胞性白血病患者在急變期出現伴不典型Ph染色體的亞二倍體復雜核型為高危核型,此類患者可能存在對伊馬替尼的耐藥,如能取得血液學緩解應盡早接受異基因骨髓造血干細胞移植,爭取獲得長期療效。
【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: Copy
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