Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5529277 | Pathology - Research and Practice | 2017 | 5 Pages |
Abstract
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.
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Authors
Lenka Krskova, Eva Stejskalova, Edita Kabickova, Marcela Mrhalova, Roman Kodet,