Tirado Carlos A, Jahn Jennifer A, Scheerle Jay, Eid Maya, Meister Robert J, Christie Robert J, Croft Calvin D, Wallingford Steven, Heritage Deborah W, Mowrey Philip N, Meloni-Ehrig Aurelia M
Laboratory of Cytogenetics, Quest Diagnostics Nichols Institute, 14225 Newbrook Drive, Chantilly, VA 20151, USA.
Cancer Genet Cytogenet. 2005 Aug;161(1):70-3. doi: 10.1016/j.cancergencyto.2005.01.005.
Fluorescence in situ hybridization (FISH) analysis of the bone marrow of a 24-year-old man diagnosed with acute promyelocytic leukemia (APL) revealed a variant pattern with one fusion signal instead of the typical two fusions expected with the probe set used. The combined FISH and conventional chromosome analyses suggested that two subsequent translocations had occurred in this patient involving the same chromosomes 15 and 17. As the prognostic outcome in APL is strictly associated with the presence of a PML/RARA fusion, it is useful and necessary to perform both cytogenetic and FISH analyses of a variant t(15;17) to determine the status of the PML/RARA fusion.
对一名被诊断为急性早幼粒细胞白血病(APL)的24岁男性患者的骨髓进行荧光原位杂交(FISH)分析,结果显示出一种变异模式,即只有一个融合信号,而不是所用探针组预期的典型两个融合信号。FISH与传统染色体分析相结合表明,该患者发生了两次涉及相同15号和17号染色体的后续易位。由于APL的预后结果与PML/RARA融合的存在密切相关,因此对变异型t(15;17)进行细胞遗传学和FISH分析以确定PML/RARA融合状态是有用且必要的。