Asif Muhammad, Jamal Mohammad Sarwar, Khan Abdul Rehman, Naseer Muhammad Imran, Hussain Abrar, Choudhry Hani, Malik Arif, Khan Shahida Aziz, Mahmoud Maged Mostafa, Ali Ashraf, Iram Saima, Kamran Kashif, Iqbal Asim, Abduljaleel Zainularifeen, Pushparaj Peter Natesan, Rasool Mahmood
Department of Biotechnology, Balochistan University of Information Technology, Engineering and Management Sciences (BUITEMS), Quetta, Pakistan; Office of Research Innovation and Commercialization, Balochistan University of Information Technology, Engineering and Management Sciences (BUITEMS), Quetta, Pakistan.
King Fahd Medical Research Center (KFMRC), King Abdulaziz University , Jeddah , Saudi Arabia.
Front Oncol. 2016 May 30;6:124. doi: 10.3389/fonc.2016.00124. eCollection 2016.
Philadelphia (Ph) chromosome (9;22)(q34;q11) is well established in more than 90% of chronic myeloid leukemia (CML) patients, and the remaining 5-8% of CML patients show variant and complex translocations, with the involvement of third, fourth, or fifth chromosome other than 9;22. However, in very rare cases, the fourth chromosome is involved. Here, we found a novel case of four-way Ph+ chromosome translocation involving 46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2) with CML in the chronic phase. Complete blood cell count of the CML patient was carried out to obtain total leukocytes count, hemoglobin, and platelets. Fluorescence in situ hybridization technique was used for the identification of BCR-ABL fusion gene, and cytogenetic test for the confirmation of Ph (9;22)(q34;q11) and the mechanism of variant translocation in the bone marrow. The patient is successfully treated with a dose of 400 mg/day imatinib mesylate (Gleevec). We observed a significant decrease in white blood cell count of 11.7 × 10(9)/L after 48-month follow-up. Patient started feeling better generally. There was a reduction in the swelling of the body, fatigue, and anxiety.
费城(Ph)染色体(9;22)(q34;q11)在90%以上的慢性髓性白血病(CML)患者中已得到充分证实,其余5 - 8%的CML患者表现出变异和复杂易位,涉及除9;22之外的第三、第四或第五条染色体。然而,在非常罕见的情况下,第四条染色体会受累。在此,我们发现了一例新的四向Ph +染色体易位病例,涉及46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2),处于慢性期的CML。对该CML患者进行全血细胞计数以获得白细胞总数、血红蛋白和血小板计数。采用荧光原位杂交技术鉴定BCR - ABL融合基因,并通过细胞遗传学检测确认骨髓中Ph(9;22)(q34;q11)及变异易位的机制。该患者成功接受了每日400mg甲磺酸伊马替尼(格列卫)的治疗。48个月随访后,我们观察到白细胞计数显著下降,降至11.7×10⁹/L。患者总体感觉好转。身体肿胀、疲劳和焦虑症状有所减轻。