Costa Dolors, Carrió Ana, Madrigal Irene, Arias Amparo, Valera Alexandra, Colomer Dolors, Aguilar Josep Lluís, Teixido Montse, Camós Mireia, Cervantes Francisco, Campo Elías
Hematopathology Unit, Hospital Clínic. Villarroel, 170, 08036, Barcelona, Catalonia, Spain.
Cancer Genet Cytogenet. 2006 Apr 1;166(1):89-93. doi: 10.1016/j.cancergencyto.2005.08.024.
The BCR/ABL gene fusion, the hallmark of chronic myelogenous leukemia (CML) is generated in 2-10% of patients by a variant Ph translocation involving 9q34, 22q11.2, and one or more additional genomic regions. The objective of this study was the characterization by conventional and molecular cytogenetics of complex variant Ph translocations present at diagnosis. FISH studies were performed in 7 cases using the LSI BCR/ABL ES probe allowing the detection of the fusion BCR/ABL gene on the Ph chromosome in all of them and 9q34 deletions in 2 cases. Three cryptic complex rearrangements were detected by FISH studies. The third and the fourth chromosome regions involved in the 8 complex variant translocations were: 1q21, 1p36, 5q31, 11q13, 12q13, 12p13, and 20q12. In conclusion, FISH studies have been useful in the detection of the BCR/ABL rearrangements and 9q34 deletions, and to identify complex rearrangements that differ from the ones previously established by conventional cytogenetics.
BCR/ABL基因融合是慢性粒细胞白血病（CML）的标志，在2%至10%的患者中，由涉及9q34、22q11.2和一个或多个其他基因组区域的变异型费城染色体易位产生。本研究的目的是通过传统和分子细胞遗传学方法对诊断时存在的复杂变异型费城染色体易位进行特征分析。对7例患者进行了荧光原位杂交（FISH）研究，使用LSI BCR/ABL ES探针，结果显示所有患者的费城染色体上均能检测到融合的BCR/ABL基因，2例患者检测到9q34缺失。通过FISH研究检测到3种隐匿性复杂重排。8种复杂变异型易位所涉及的第三条和第四条染色体区域为：1q21、1p36、5q31、11q13、12q13、12p13和20q12。总之，FISH研究有助于检测BCR/ABL重排和9q34缺失，并识别与先前通过传统细胞遗传学确定的重排不同的复杂重排。
