Krskova Lenka, Stejskalova Eva, Kabickova Edita, Mrhalova Marcela, Kodet Roman
Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czechia.
Department of Pediatric Hematology and Oncology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czechia.
Pathol Res Pract. 2017 Mar;213(3):281-285. doi: 10.1016/j.prp.2016.12.005. Epub 2016 Dec 16.
We report cytogenetic and molecular genetic analysis of a pediatric tumor positive for the CIC-DUX4 fusion. The tumor belongs to a rare, diagnostically challenging subgroup of undifferentiated small round cell sarcomas. A balanced t(4;19)(q35;q13.1-2) was identified by G-banding, as a sole cytogenetic finding. The translocation was also identified by the M-FISH technique. After RT-PCR, the tumor sample was positive for the CIC-DUX4 fusion. The PCR product contains a novel, so far unreported variant of the CIC-DUX4 fusion transcript, with a fusion of the exon 20 from the CIC gene and the exon 1 from the DUX4 gene.
我们报告了一例CIC-DUX4融合阳性的儿科肿瘤的细胞遗传学和分子遗传学分析。该肿瘤属于未分化小细胞肉瘤中一个罕见的、诊断具有挑战性的亚组。通过G显带鉴定出一个平衡的t(4;19)(q35;q13.1-2)，这是唯一的细胞遗传学发现。通过M-FISH技术也鉴定出了该易位。逆转录聚合酶链反应（RT-PCR）后，肿瘤样本CIC-DUX4融合呈阳性。聚合酶链反应（PCR）产物包含一种新的、迄今未报道的CIC-DUX4融合转录变体，其为CIC基因的第20外显子与DUX4基因的第1外显子融合。
