A fluorescence in situ hybridization study of complex t(9;22) in two chronic myelocytic leukemia cases with a masked Philadelphia chromosome

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• 作者：Zagaria ; Antonella ; Anelli ; Luisa ; Albano ; Francesco ; Tiziana Storlazzi ; Clelia ; Liso ; Arcangelo ; et. al.
• 刊名：Cancer Genetics and Cytogenetics
• 出版年：2004
• 出版时间：April 1, 2004
• 年：2004
• 卷：150
• 期：1
• 页码：81-85
• 全文大小：257 K

文摘

The t(9;22)(q34;q11) is evident in more than 90 % of patients with chronic myelocytic leukemia (CML) and gives rise to the Philadelphia chromosome (Ph). Approximately 5 % –10 % of CML patients show variant translocations involving other chromosomes in addition to chromosomes 9 and 22. In some variant translocations, additional material is transferred on der(22), resulting in a masked Ph chromosome. In this paper, we report two apparently Ph-negative (Ph−) CML cases showing a t(7;9;22)(q22;q34;q11) and a t(8;9;22)(q12;q34;q11), respectively. A detailed molecular cytogenetic characterization was performed by fluorescence in situ hybridization (FISH), which disclosed the presence of the 5′BCR/3′ABL fusion gene on the der(7) and der(8) chromosomes, respectively. Derivative (22) appeared as a masked Ph chromosome in both cases. FISH analysis with appropriate BAC/PAC clones allowed us to precisely characterize the complex chromosomal rearrangements that were not detected by conventional cytogenetic analysis.