Debiec-Rychter Maria, Marynen Peter, Hagemeijer Anne, Pauwels Patrick
Center for Human Genetics, University of Leuven, Leuven, Belgium.
Genes Chromosomes Cancer. 2003 Oct;38(2):187-90. doi: 10.1002/gcc.10267.
In this report, we describe an inflammatory myofibroblastic tumor (IMT) of the urinary bladder in a 46-year-old man. Tumor cells presented striking cytoplasmatic ALK immunopositivity. Cytogenetic and FISH analysis, by use of a multicolor chromosome 2 banding probe, revealed a 46,XY,der(2)(2pter-->2p23:2q35-->2q37:2p11-->2q35:2p23-->2p11:2q37-->2qter) karyotype. Subsequent FISH and RT-PCR analysis confirmed the ALK-ATIC chimeric fusion in tumor cells. This is the first evidence of a variant rearrangement involving the ATIC gene in IMT and the first cytogenetic description of an IMT originating from the urinary bladder.
在本报告中,我们描述了一名46岁男性膀胱炎性肌纤维母细胞瘤(IMT)。肿瘤细胞呈现出显著的细胞质ALK免疫阳性。通过使用多色2号染色体带型探针进行细胞遗传学和荧光原位杂交(FISH)分析,发现核型为46,XY,der(2)(2pter→2p23:2q35→2q37:2p11→2q35:2p23→2p11:2q37→2qter)。随后的FISH和逆转录聚合酶链反应(RT-PCR)分析证实肿瘤细胞中存在ALK-ATIC嵌合融合。这是IMT中涉及ATIC基因的变异重排的首个证据,也是起源于膀胱的IMT的首个细胞遗传学描述。