Wang Yong, Xue Yongquan, Chen Suning, Wu Yafang, Pan Jinlan, Zhang Jun, Shen Juan
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Thrombosis and Hemostasis Key Laboratory of the Ministry of Health, Soochow University, Suzhou, Jiangsu, 215006 P.R.China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):34-7. doi: 10.3760/cma.j.issn.1003-9406.2010.01.007.
To explore the clinical and laboratory features of 6 cases of acute myeloid leukemia (AML) with t(6;9)(p23;q34).
Chromosome preparation of bone marrow cells was performed with regular method. R-banding by heating using Giemsa banding technique (RHG) was used for karyotype analysis. The immunoprofile was studied by flow cytometry (FCM) using a panel of monoclonal antibodies. Chromosome painting was performed by using whole chromosome paint probes for chromosomes 6 and 9 in all the 6 cases. The expression of fusion gene DEK/CAN and FLT3-ITD mutation were analyzed by reverse transcription-PCR(RT-PCR).
The t(6;9)(p23;q34) was found in all the 6 cases including 4 cases of M2 and 2 cases of M4. Blast cells were positive for CD13 and CD33 in 6 patients, for HLA-DR in 4 patients, for CD34 and CD117 in 3 cases, for CD38 or CD15 each in 1 case, respectively. A reciprocal translocation between chromosome 6 and 9 was confirmed by chromosome painting technique in the 6 cases. The DEK/CAN fusion gene was found in all the 6 cases, FLT3-ITD mutation was detected in three of them. Follow-up showed that 3 patients died with a survival time of 3 months, 5 months and 6 months, respectively. The other three obtained complete remission and are still alive.
The t(6;9)(p23;q34) is a rare recurrent abnormity. AML with t(6;9)(p23;q34) has unique clinical and laboratory features and its prognosis is poor in most cases.
探讨6例伴t(6;9)(p23;q34)的急性髓系白血病（AML）的临床及实验室特征。
采用常规方法制备骨髓细胞染色体。应用吉姆萨显带技术加热进行R显带（RHG）分析核型。采用一组单克隆抗体通过流式细胞术（FCM）研究免疫表型。对所有6例患者使用6号和9号染色体的全染色体涂染探针进行染色体涂染。通过逆转录-聚合酶链反应（RT-PCR）分析融合基因DEK/CAN的表达及FLT3-ITD突变情况。
6例患者均检测到t(6;9)(p23;q34)，其中M2型4例，M4型2例。6例患者原始细胞CD13和CD33均阳性，4例HLA-DR阳性，3例CD34和CD117阳性，1例CD38阳性，1例CD15阳性。染色体涂染技术证实6例患者6号和9号染色体之间存在相互易位。6例患者均检测到DEK/CAN融合基因，其中3例检测到FLT3-ITD突变。随访显示，3例患者分别于3个月、5个月和6个月死亡。另外3例获得完全缓解，仍存活。
t(6;9)(p23;q34)是一种罕见的复发性异常。伴t(6;9)(p23;q34)的AML具有独特的临床及实验室特征，多数病例预后较差。
