Al-Achkar Walid, Wafa Abdulsamad, Liehr Thomas
Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission, Damascus, Syria.
Oncol Lett. 2011 Mar;2(2):273-276. doi: 10.3892/ol.2011.257. Epub 2011 Jan 21.
The so-called Philadelphia (Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases. Approximately 5-10% of these patients show complex translocations involving a third chromosome in addition to chromosomes 9 and 22. Since the majority of CML cases are currently treated with imatinib, variant rearrangements in general have no specific prognostic significance, although the mechanisms involved in resistance to therapy have yet to be investigated. This study evalutated a CML case with complex chromosomal aberrations not previously observed. A four chromosome translocation involving chromosomal regions such as 12q24.2-24.31 and 16p11.2 besides 9q34 and 22q11 were characterized in detail by array-proven multicolor banding (aMCB). A beneficial response to imatinib was noted in the patient.
所谓的费城（Ph）染色体存在于90%以上的慢性髓性白血病（CML）病例中。这些患者中约5%-10%除了9号和22号染色体外，还表现出涉及第三条染色体的复杂易位。由于目前大多数CML病例采用伊马替尼治疗，一般来说，变异重排没有特定的预后意义，尽管耐药的机制尚未研究。本研究评估了1例此前未观察到的具有复杂染色体畸变的CML病例。通过阵列验证的多色带（aMCB）详细表征了一个涉及9q34和22q11以外的12q24.2-24.31和16p11.2等染色体区域的四染色体易位。该患者对伊马替尼有良好反应。
