慢性髓性白血病中罕见的三方复杂变异易位t(6;9;22)(p21;q34;q11)：一例报告
A rare case of three-way complex variant translocation in chronic myeloid leukemia t(6;9;22)(p21;q34;q11): A case report.
作者信息
Asif Muhammad, Hussain Abrar, Wali Abdul, Ahmad Nazeer, Sajjad Naheed, Amir Muhammad, Ali Irfan, Pushparaj Peter Natesan, Rasool Mahmood
机构信息
Department of Biotechnology, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta 87300, Pakistan.
Department of Biotechnology, Sardar Bahadur Khan Women's University, Quetta 87500, Pakistan.
出版信息
Biomed Rep. 2017 Oct;7(4):377-379. doi: 10.3892/br.2017.967. Epub 2017 Aug 17.
Philadelphia (Ph)-positive chromosome or Ph translocation has been recognized in 90-95 chronic myeloid leukemia (CML) cases worldwide. However, only 5-8% CML patients show complex variant translocations. In the present study, hematological tests for a 47-year-old female CML patient were performed to determine the hemoglobin, platelets and total leukocyte values. A FISH test was carried out to recognize the gene fusion, and a cytogenetic analysis was performed. The hematological results showed an increase in WBC (414000/mm) and a decrease in hemoglobin (8.9 mg/dl), indicating the anemic condition in the CML patient. Furthermore, cytogenetic karyotyping results showed 46,XX,t(6;9;22)(p21;q34;q11) and positive for Ph chromosome. In conclusion, in the present study, we report a rare three-way complex variant translocation in a CML patient.
在全球范围内，90% - 95%的慢性髓性白血病（CML）病例中可检测到费城（Ph）阳性染色体或Ph易位。然而，仅有5% - 8%的CML患者表现出复杂的变异易位。在本研究中，对一名47岁女性CML患者进行了血液学检测，以确定血红蛋白、血小板和白细胞总数。进行了荧光原位杂交（FISH）检测以识别基因融合，并进行了细胞遗传学分析。血液学结果显示白细胞计数升高（414000/mm），血红蛋白降低（8.9 mg/dl），表明该CML患者存在贫血状况。此外，细胞遗传学核型分析结果显示为46,XX,t(6;9;22)(p21;q34;q11)，且Ph染色体呈阳性。总之，在本研究中，我们报告了一例CML患者中罕见的三向复杂变异易位。
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